MCID: CRB045
MIFTS: 41

Cerebellar Hypoplasia

Categories: Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Hypoplasia

MalaCards integrated aliases for Cerebellar Hypoplasia:

Name: Cerebellar Hypoplasia 12 74 52 53 54 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0070338

Summaries for Cerebellar Hypoplasia

NIH Rare Diseases : 52 Cerebellar hypoplasia is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. It may occur with a variety of congenital syndromes , metabolic disorders and neurodegenerative disorders; therefore signs and symptoms may depend upon the associated condition an affected individual has. The most common findings are developmental and speech delay, poor muscle tone (hypotonia ), ataxia and abnormal ocular (eye) movements. Cerebellar hypoplasia may range from mild or partial underdevelopment to complete absence (agenesis). It may affect only the cerebellum, or also affect other central nervous system structures. The inheritance pattern may differ depending on the underlying cause of the condition. Treatment is generally symptomatic and supportive and depends upon the underlying disorder and the severity of symptoms.

MalaCards based summary : Cerebellar Hypoplasia is related to cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay and lissencephaly with cerebellar hypoplasia. An important gene associated with Cerebellar Hypoplasia is OPHN1 (Oligophrenin 1), and among its related pathways/superpathways are Neuroscience and Guidance Cues and Growth Cone Motility. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include cerebellum, brain and eye, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.

NINDS : 53 Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.  Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form of muscular dystrophy. It is also associated with several inherited metabolic disorders, such as Williams syndrome, and some of the neurodegenerative disorders that begin in early childhood, such as ataxia telangiectasia.   In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, intellectual disability, and involuntary side to side movements of the eyes.  In an older child, symptoms might include headache, dizzy spells, clumsiness, and hearing impairment.

Wikipedia : 74 Cerebellar hypoplasia is characterized by reduced cerebellar volume, even though cerebellar shape is... more...

Related Diseases for Cerebellar Hypoplasia

Diseases in the Cerebellar Hypoplasia family:

Cerebellar Malformation

Diseases related to Cerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 365, show less)
# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 34.4 PMM2 OXR1 ATAD3A
2 lissencephaly with cerebellar hypoplasia 33.9 VLDLR RELN PAFAH1B1 DCX CDK5
3 lissencephaly 2 32.3 VLDLR TUBA1A RELN PAFAH1B1
4 lissencephaly 31.5 WDR73 VLDLR TUBA1A RELN PAFAH1B1 DCX
5 pontocerebellar hypoplasia 30.5 VLDLR CASK ATAD3A
6 pachygyria 30.4 TUBA1A PAFAH1B1
7 lissencephaly 1 30.2 RELN PAFAH1B1 DCX
8 microlissencephaly 30.1 WDR81 TUBA1A
9 walker-warburg syndrome 29.7 TUBA1A RELN PMM2 PAFAH1B1
10 neuronal migration disorders 29.7 TUBA1A RELN PAFAH1B1 DCX
11 cerebellar disease 29.5 VLDLR TUBA1A RELN PAFAH1B1 OPHN1
12 periventricular nodular heterotopia 29.2 VLDLR TUBA1A RELN PAFAH1B1 INTS8 DCX
13 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.7
14 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.7
15 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 12.7
16 lissencephaly 7 with cerebellar hypoplasia 12.6
17 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.6
18 cerebellar hypoplasia with endosteal sclerosis 12.6
19 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.6
20 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.6
21 neurodevelopmental disorder with cerebellar hypoplasia and spasticity 12.5
22 porencephaly, cerebellar hypoplasia, and internal malformations 12.4
23 cerebellar hypoplasia tapetoretinal degeneration 12.4
24 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.4
25 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 12.4
26 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 12.3
27 isolated unilateral hemispheric cerebellar hypoplasia 12.3
28 cerebral calcification cerebellar hypoplasia 12.2
29 isolated bilateral hemispheric cerebellar hypoplasia 12.2
30 lissencephaly with cerebellar hypoplasia type f 12.2
31 lissencephaly with cerebellar hypoplasia type e 12.2
32 lissencephaly with cerebellar hypoplasia type b 12.2
33 lissencephaly with cerebellar hypoplasia type a 12.2
34 lissencephaly with cerebellar hypoplasia type d 12.2
35 lissencephaly with cerebellar hypoplasia type c 12.2
36 hoyeraal hreidarsson syndrome 12.2
37 dyskeratosis congenita, x-linked 12.1
38 pontocerebellar hypoplasia, type 1c 11.9
39 spinocerebellar ataxia, autosomal recessive 2 11.7
40 x-linked intellectual disability, najm type 11.7
41 gillespie syndrome 11.6
42 congenital disorder of glycosylation, type ia 11.6
43 mental retardation, x-linked, syndromic, 35 11.5
44 pancreatic and cerebellar agenesis 11.5
45 spondylometaphyseal dysplasia, sedaghatian type 11.5
46 muscular dystrophy-dystroglycanopathy , type b, 14 11.5
47 ophn1 syndrome 11.4
48 alkuraya-kucinskas syndrome 11.4
49 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 11.4
50 ritscher-schinzel syndrome 1 11.4
51 chiari malformation 11.4
52 otopalatodigital syndrome, type ii 11.4
53 spinocerebellar ataxia, autosomal recessive 25 11.4
54 revesz syndrome 11.3
55 cerebellofaciodental syndrome 11.3
56 spinocerebellar ataxia, autosomal recessive 20 11.2
57 coach syndrome 11.2
58 neu-laxova syndrome 1 11.2
59 dyskeratosis congenita, autosomal recessive 5 11.2
60 joubert syndrome 26 11.2
61 mental retardation, autosomal recessive 53 11.2
62 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 11.2
63 cerebellar, ocular, craniofacial, and genital syndrome 11.2
64 cebalid syndrome 11.2
65 cask-related disorders 11.2
66 dyskeratosis congenita, autosomal dominant 1 11.0
67 galloway-mowat syndrome 1 11.0
68 peho syndrome 11.0
69 trichothiodystrophy 5, nonphotosensitive 11.0
70 immunodeficiency 47 11.0
71 galloway-mowat syndrome 2, x-linked 11.0
72 cerebellar ataxia, cayman type 11.0
73 amegakaryocytic thrombocytopenia, congenital 11.0
74 pontocerebellar hypoplasia, type 5 11.0
75 short-rib thoracic dysplasia 3 with or without polydactyly 11.0
76 muscular dystrophy-dystroglycanopathy , type a, 14 11.0
77 cortical dysplasia, complex, with other brain malformations 6 11.0
78 neu-laxova syndrome 2 11.0
79 joubert syndrome 24 11.0
80 joubert syndrome 25 11.0
81 microcephaly 17, primary, autosomal recessive 11.0
82 hypotonia, ataxia, and delayed development syndrome 11.0
83 peho-like syndrome 11.0
84 galloway-mowat syndrome 3 11.0
85 galloway-mowat syndrome 4 11.0
86 galloway-mowat syndrome 5 11.0
87 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 11.0
88 cortical dysplasia, complex, with other brain malformations 9 11.0
89 pontocerebellar hypoplasia, type 12 11.0
90 galloway-mowat syndrome 6 11.0
91 galloway-mowat syndrome 7 11.0
92 galloway-mowat syndrome 8 11.0
93 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 11.0
94 epileptic encephalopathy, early infantile, 82 11.0
95 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 11.0
96 triokinase and fmn cyclase deficiency syndrome 11.0
97 adenylosuccinase lyase deficiency 11.0
98 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 11.0
99 congenital intrauterine infection-like syndrome 11.0
100 x-linked lissencephaly with abnormal genitalia 11.0
101 cask-related intellectual disability 11.0
102 ataxia and polyneuropathy, adult-onset 10.5
103 microcephaly 10.5
104 cerebellar ataxia, nonprogressive, with mental retardation 10.4 WDR81 VLDLR RELN
105 hypotonia 10.4
106 isolated cerebellar agenesis 10.3 PMM2 OXR1 ATAD3A
107 hydranencephaly 10.3
108 hydrocephalus 10.3
109 strabismus 10.3
110 mechanical strabismus 10.3
111 dyskinetic cerebral palsy 10.2 MAST1 ATAD3A
112 alacrima, achalasia, and mental retardation syndrome 10.2
113 chromosomal triplication 10.2
114 leukodystrophy, hypomyelinating, 11 10.2 POLR3B ATAD3A
115 pathologic nystagmus 10.2
116 bilirubin metabolic disorder 10.2
117 tremor 10.2
118 congenital amyoplasia 10.2
119 cataract 10.2
120 lissencephaly, x-linked, 1 10.1 PAFAH1B1 DCX
121 pancytopenia 10.1
122 epilepsy 10.1
123 hemangioma 10.1
124 encephalopathy 10.1
125 chromosome 17p13.3, centromeric, duplication syndrome 10.1 WDR81 PAFAH1B1 DCX
126 dandy-walker syndrome 10.1
127 hydrocephalus, congenital, 1 10.1
128 3-methylglutaconic aciduria, type iii 10.1
129 brittle bone disorder 10.1
130 autosomal recessive disease 10.1
131 lymphocytic choriomeningitis 10.1
132 spinal muscular atrophy 10.1
133 diarrhea 10.1
134 muscular atrophy 10.1
135 neurofibromatosis 10.1
136 seizure disorder 10.1
137 cerebellar malformation 10.1
138 spinal muscular atrophy, type i 10.0
139 kearns-sayre syndrome 10.0
140 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 10.0
141 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 10.0
142 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
143 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
144 hereditary ataxia 10.0
145 scoliosis 10.0
146 microphthalmia 10.0
147 visual epilepsy 10.0
148 hypothyroidism 10.0
149 hypogonadism 10.0
150 holoprosencephaly 10.0
151 cask disorders 10.0
152 polymicrogyria 10.0
153 tubulinopathies 10.0
154 cerebral atrophy 10.0
155 moebius syndrome 9.9
156 torticollis 9.9
157 down syndrome 9.9
158 velocardiofacial syndrome 9.9
159 autism 9.9
160 joubert syndrome 1 9.9
161 charge syndrome 9.9
162 smith-lemli-opitz syndrome 9.9
163 hydrocephalus with cerebellar agenesis 9.9
164 yemenite deaf-blind hypopigmentation syndrome 9.9
165 branchiootic syndrome 1 9.9
166 polydactyly 9.9
167 phace association 9.9
168 muscular dystrophy, congenital, lmna-related 9.9
169 autism spectrum disorder 9.9
170 porencephaly 9.9
171 ritscher-schinzel syndrome 9.9
172 hereditary lymphedema i 9.9
173 leukodystrophy 9.9
174 respiratory failure 9.9
175 rabies 9.9
176 patau syndrome 9.9
177 telangiectasis 9.9
178 biliary atresia 9.9
179 autosomal dominant cerebellar ataxia 9.9
180 communicating hydrocephalus 9.9
181 heart septal defect 9.9
182 atrial heart septal defect 9.9
183 dyskeratosis congenita 9.9
184 anterior horn cell disease 9.9
185 dystonia 9.9
186 learning disability 9.9
187 muscular dystrophy 9.9
188 mitochondrial disorders 9.9
189 cerebellar agenesis 9.9
190 congenital cytomegalovirus 9.9
191 spastic paraparesis 9.9
192 cytomegalovirus infection 9.9
193 spasticity 9.9
194 physical disorder 9.8 TUBA1A RELN PAFAH1B1 DCX
195 miller-dieker lissencephaly syndrome 9.8 VLDLR TUBA1A RELN PAFAH1B1 DCX
196 congenital nervous system abnormality 9.8 VLDLR TUBA1A RELN PAFAH1B1 DCX
197 adenylosuccinase deficiency 9.8
198 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.8
199 cleft palate, isolated 9.8
200 coarctation of aorta 9.8
201 coloboma of macula 9.8
202 cornelia de lange syndrome 1 9.8
203 jacobsen syndrome 9.8
204 keratitis, hereditary 9.8
205 nondisjunction 9.8
206 myositis 9.8
207 neurofibromatosis, type i 9.8
208 hemifacial microsomia 9.8
209 osteogenesis imperfecta, type iv 9.8
210 prader-willi syndrome 9.8
211 ulnar-mammary syndrome 9.8
212 septooptic dysplasia 9.8
213 spondyloepimetaphyseal dysplasia, strudwick type 9.8
214 sturge-weber syndrome 9.8
215 chromosome 2q35 duplication syndrome 9.8
216 tetralogy of fallot 9.8
217 thrombophilia due to thrombin defect 9.8
218 trigeminal neuralgia 9.8
219 chiari malformation type ii 9.8
220 ataxia-telangiectasia 9.8
221 gordon holmes syndrome 9.8
222 cohen syndrome 9.8
223 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
224 corpus callosum, agenesis of 9.8
225 mowat-wilson syndrome 9.8
226 muscular dystrophy-dystroglycanopathy , type a, 1 9.8
227 immune deficiency disease 9.8
228 macrocephaly/megalencephaly syndrome, autosomal recessive 9.8
229 metachromatic leukodystrophy 9.8
230 muscular dystrophy-dystroglycanopathy , type a, 4 9.8
231 neurodegeneration with brain iron accumulation 2a 9.8
232 osteogenesis imperfecta, type iii 9.8
233 peters-plus syndrome 9.8
234 pierre robin syndrome 9.8
235 abnormal hair, joint laxity, and developmental delay 9.8
236 retinitis pigmentosa 9.8
237 pontocerebellar hypoplasia, type 2a 9.8
238 opitz gbbb syndrome, type i 9.8
239 spinocerebellar ataxia, x-linked 5 9.8
240 spinocerebellar ataxia, x-linked 1 9.8
241 opitz-kaveggia syndrome 9.8
242 pelizaeus-merzbacher disease 9.8
243 warburg micro syndrome 1 9.8
244 microcephaly with simplified gyral pattern 9.8
245 spinocerebellar ataxia 15 9.8
246 pontocerebellar hypoplasia, type 1a 9.8
247 spinocerebellar ataxia 8 9.8
248 aplastic anemia 9.8
249 goldberg-shprintzen syndrome 9.8
250 osteogenesis imperfecta, type v 9.8
251 pontocerebellar hypoplasia, type 6 9.8
252 stevenson-carey syndrome 9.8
253 congenital disorder of glycosylation, type in 9.8
254 leukemia, acute lymphoblastic 9.8
255 aspergillosis 9.8
256 pontocerebellar hypoplasia, type 1b 9.8
257 pontine tegmental cap dysplasia 9.8
258 congenital disorder of glycosylation, type iu 9.8
259 spinocerebellar ataxia, autosomal recessive 17 9.8
260 neurooculocardiogenitourinary syndrome 9.8
261 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 9.8
262 speech and communication disorders 9.8
263 congenital hypothyroidism 9.8
264 brachydactyly 9.8
265 tooth agenesis 9.8
266 early infantile epileptic encephalopathy 9.8
267 atrioventricular block 9.8
268 second-degree atrioventricular block 9.8
269 focal dystonia 9.8
270 syndromic intellectual disability 9.8
271 autosomal recessive cerebellar ataxia 9.8
272 pervasive developmental disorder 9.8
273 ptosis 9.8
274 metaphyseal dysplasia 9.8
275 renal hypoplasia 9.8
276 galloway-mowat syndrome 9.8
277 hypogonadotropic hypogonadism 9.8
278 molybdenum cofactor deficiency 9.8
279 neuroretinitis 9.8
280 monocular esotropia 9.8
281 hypospadias 9.8
282 keratomalacia 9.8
283 neonatal diabetes mellitus 9.8
284 cornelia de lange syndrome 9.8
285 nephrotic syndrome 9.8
286 hypertrophic cardiomyopathy 9.8
287 neutropenia 9.8
288 quadriplegia 9.8
289 pure red-cell aplasia 9.8
290 basilar artery occlusion 9.8
291 facial paralysis 9.8
292 cholera 9.8
293 thrombocytopenia 9.8
294 ichthyosis 9.8
295 exostosis 9.8
296 motor neuron disease 9.8
297 neuroaxonal dystrophy 9.8
298 kernicterus 9.8
299 sensory peripheral neuropathy 9.8
300 reflex epilepsy 9.8
301 capillary hemangioma 9.8
302 astrocytoma 9.8
303 early myoclonic encephalopathy 9.8
304 mood disorder 9.8
305 retinitis 9.8
306 myopathy 9.8
307 encephalitozoonosis 9.8
308 perineurioma 9.8
309 movement disease 9.8
310 borna disease 9.8
311 peripheral nervous system disease 9.8
312 acute disseminated encephalomyelitis 9.8
313 situs inversus 9.8
314 retinal degeneration 9.8
315 polyhydramnios 9.8
316 neuropathy 9.8
317 mitochondrial encephalomyopathy 9.8
318 cleft lip 9.8
319 encephalitis 9.8
320 congenital nystagmus 9.8
321 esotropia 9.8
322 alopecia 9.8
323 autosomal dominant epilepsy with auditory features 9.8
324 childhood ataxia with central nervous system hypomyelination / vanishing white matter 9.8
325 congenital disorders of n-linked glycosylation and multiple pathway 9.8
326 dcx-related disorders 9.8
327 exosc3-related pontocerebellar hypoplasia 9.8
328 pafah1b1-associated lissencephaly/subcortical band heterotopia 9.8
329 x-linked otopalatodigital spectrum disorders 9.8
330 congenital hydrocephalus 9.8
331 congenital lymphedema 9.8
332 congenital torticollis 9.8
333 craniofacial microsomia 9.8
334 dwarfism 9.8
335 epilepsy with myoclonic-atonic seizures 9.8
336 glioma 9.8
337 inherited bone marrow failure syndromes 9.8
338 muscle eye brain disease 9.8
339 oto-palatal-digital syndrome 9.8
340 pectus carinatum 9.8
341 polymyositis 9.8
342 pontocerebellar hypoplasia type 1 9.8
343 proximal spinal muscular atrophy 9.8
344 ring chromosome 6 9.8
345 sunct headache 9.8
346 trisomy 17 mosaicism 9.8
347 weber syndrome 9.8
348 wyburn-mason syndrome 9.8
349 isolated pierre robin sequence 9.8
350 anoxia 9.8
351 headache 9.8
352 hypertonia 9.8
353 megalencephaly 9.8
354 ohtahara syndrome 9.8
355 glial tumor 9.8
356 mosaic trisomy 17 9.8
357 isolated complex iii deficiency 9.8
358 ring chromosome 9.8
359 congenital oculomotor nerve palsy 9.8
360 rhombencephalosynapsis 9.8
361 autosomal trisomy 9.8
362 colobomatous microphthalmia 9.8
363 red cell aplasia 9.8
364 hypomelanosis of ito 9.7 TUBA1A PAFAH1B1
365 band heterotopia 9.7 VLDLR TUBA1A RELN PAFAH1B1 DCX CDK5

Graphical network of the top 20 diseases related to Cerebellar Hypoplasia:



Diseases related to Cerebellar Hypoplasia

Symptoms & Phenotypes for Cerebellar Hypoplasia

GenomeRNAi Phenotypes related to Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

26 (showing 13, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.84 PI4KA VLDLR
2 Decreased viability GR00154-A 9.84 CDK5
3 Decreased viability GR00221-A-1 9.84 DKC1 MAST1
4 Decreased viability GR00221-A-2 9.84 DKC1
5 Decreased viability GR00221-A-3 9.84 MAST1
6 Decreased viability GR00221-A-4 9.84 CDK5 DKC1 MAST1 WNT1
7 Decreased viability GR00231-A 9.84 PI4KA
8 Decreased viability GR00240-S-1 9.84 POLR3B WDR81
9 Decreased viability GR00249-S 9.84 CDK5 DKC1 MAST1 PI4KA TUBA1A WNT1
10 Decreased viability GR00301-A 9.84 DKC1 WNT1
11 Decreased viability GR00342-S-2 9.84 CASK
12 Decreased viability GR00386-A-1 9.84 CASK POLR3B TUBA1A WNT1
13 Decreased viability GR00402-S-2 9.84 ATAD3A DKC1 MAST1 PI4KA POLR3B VLDLR

MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

45 (showing 5, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 ATAD3A CASK CDK5 DCX OPHN1 OXR1
2 cellular MP:0005384 10.07 ATAD3A CASK DKC1 MAST1 OXR1 PAFAH1B1
3 growth/size/body region MP:0005378 9.97 ATAD3A CASK DCX DKC1 OPHN1 PAFAH1B1
4 mortality/aging MP:0010768 9.86 ATAD3A CASK CDK5 DCX DKC1 MAST1
5 nervous system MP:0003631 9.44 CASK CDK5 DCX MAST1 OPHN1 OXR1

Drugs & Therapeutics for Cerebellar Hypoplasia

Drugs for Cerebellar Hypoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 1, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
2 Perinatal and Long-term Outcome of Newborns With an Isolated Small Transverse Cerebellar Diameter Completed NCT03572868
3 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224

Search NIH Clinical Center for Cerebellar Hypoplasia

Genetic Tests for Cerebellar Hypoplasia

Anatomical Context for Cerebellar Hypoplasia

MalaCards organs/tissues related to Cerebellar Hypoplasia:

40
Cerebellum, Brain, Eye, Liver, Bone, Cortex, Heart

Publications for Cerebellar Hypoplasia

Articles related to Cerebellar Hypoplasia:

(showing 946, show less)
# Title Authors PMID Year
1
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. 54 61
18364738 2008
2
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. 61 54
18512229 2008
3
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. 61 54
18043714 2008
4
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. 54 61
17694350 2007
5
Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity. 54 61
17728457 2007
6
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 54 61
17664403 2007
7
The role of RELN in lissencephaly and neuropsychiatric disease. 54 61
16958033 2007
8
Genetic malformations of cortical development. 61 54
16724181 2006
9
Pathogenesis of migration disorders. 54 61
16538086 2006
10
[Monogenic causes of X-linked mental retardation]. 54 61
16506132 2006
11
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. 61 54
16221952 2005
12
Neuronal migration disorders, genetics, and epileptogenesis. 61 54
15921228 2005
13
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. 54 61
12805098 2003
14
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. 54 61
12807966 2003
15
Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy. 61 54
11815869 2002
16
Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria. 54 61
11408330 2001
17
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 54 61
10973257 2000
18
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. 54 61
10583221 1999
19
Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways. 61
32305418 2020
20
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia. 61
32198973 2020
21
Prediction of Neurodevelopmental Impairment in Congenital Cytomegalovirus Infection by Early Postnatal Magnetic Resonance Imaging. 61
32492677 2020
22
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. 61
32519519 2020
23
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. 61
32504085 2020
24
Cerebellar hypoplasia and dysplasia in a juvenile raccoon with parvoviral infection. 61
32404029 2020
25
Neuropathogenicity of newly isolated avian leukosis viruses from chickens with osteopetrosis and mesenchymal neoplasms. 61
32301629 2020
26
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta. 61
32162493 2020
27
Loss of CPAP in developing mouse brain and its functional implication in human primary microcephaly. 61
32501282 2020
28
CD8+ T-cell senescence and skewed lymphocyte subsets in young Dyskeratosis Congenita patients with PARN and DKC1 mutations. 61
32452087 2020
29
Expanding the spectrum of CEP55-associated disease to viable phenotypes. 61
32100459 2020
30
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene. 61
31689548 2020
31
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination. 61
32293553 2020
32
The Neuropathology of MIRAGE Syndrome. 61
32106287 2020
33
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2020
34
[Two cases with lissencephaly associated cerebellar hypoplasia related to RELN variation]. 61
32135599 2020
35
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8. 61
31693170 2020
36
Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system. 61
31944002 2020
37
Luckenschadel Associated with Chiari Type II Malformation: An Autopsy Case Report. 61
32096430 2020
38
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. 61
32004446 2020
39
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. 61
31493945 2020
40
Expanded PCH1D phenotype linked to EXOSC9 mutation. 61
30690203 2020
41
CNS manifestations in patients with telomere biology disorders. 61
31872047 2019
42
Zika virus infection: A correlation between prenatal ultrasonographic and postmortem neuropathologic changes. 61
31710135 2019
43
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. 61
31727539 2019
44
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies. 61
31794996 2019
45
The Reeler Mouse: A Translational Model of Human Neurological Conditions, or Simply a Good Tool for Better Understanding Neurodevelopment? 61
31805691 2019
46
Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome. 61
31649160 2019
47
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
48
Quantitative diagnostic advantages of three-dimensional ultrasound volume imaging for fetal posterior fossa anomalies: Preliminary establishment of a prediction model. 61
31441071 2019
49
Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation. 61
31365163 2019
50
GSK-3 modulates SHH-driven proliferation in postnatal cerebellar neurogenesis and medulloblastoma. 61
31540917 2019
51
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. 61
31495489 2019
52
Unilateral Cerebellar Hypoplasia: A Rare Cause of Childhood Seizures. 61
31908668 2019
53
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 61
31491411 2019
54
Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report. 61
31553256 2019
55
Redefining the Etiologic Landscape of Cerebellar Malformations. 61
31474318 2019
56
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 61
31327508 2019
57
The ratio of cavum septi pellucidi width to anteroposterior cerebellar diameter: A novel index as a diagnostic adjunct for prenatal diagnosis of trisomy 18. 61
30932268 2019
58
Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation. 61
31269755 2019
59
Association Between Neonatal Neuroimaging and Clinical Outcomes in Zika-Exposed Infants From Rio de Janeiro, Brazil. 61
31365112 2019
60
Lymphoplasmacytic Meningoencephalitis and Neuronal Necrosis Associated With Parvoviral Infection in Cats. 61
30917745 2019
61
Huppke-Brendel Syndrome 61
31194315 2019
62
Deletion of the α subunit of the heterotrimeric Go protein impairs cerebellar cortical development in mice. 61
31221179 2019
63
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 61
30487245 2019
64
WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts. 61
30692598 2019
65
Lissencephaly, cerebellar hypoplasia, and extrahepatic biliary atresia: An unusual association. 61
31047729 2019
66
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5. 61
30931988 2019
67
Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis. 61
29484745 2019
68
Developmental outcomes in children with congenital cerebellar malformations. 61
30320441 2019
69
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations. 61
30633342 2019
70
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy. 61
30549415 2019
71
Prediction of the Outcome of Cochlear Implantation in the Patients with Congenital Cytomegalovirus Infection based on Magnetic Resonance Imaging Characteristics. 61
30682778 2019
72
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation. 61
30534410 2019
73
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. 61
30549416 2019
74
Cerebellar hypoplasia of prematurity: Causes and consequences. 61
31324311 2019
75
Schmallenberg virus affects T-bet, Gata3, RoRrγt, Foxp3 and Eomes in mice brain. 61
31507194 2019
76
Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes. 61
30863741 2019
77
Tubulinopathies. 61
30516692 2018
78
Tubulin genes and malformations of cortical development. 61
30016746 2018
79
Decreased Wave V Amplitude in Auditory Brainstem Responses of Children with Cerebellar Lesions. 61
30636918 2018
80
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. 61
30449657 2018
81
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome. 61
30238602 2018
82
[Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case]. 61
30350845 2018
83
The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome. 61
30209013 2018
84
New Pachygyria Syndrome Linked to Actin Regulation Identified: When mutated, CTNNA2 leads to a new form of pachygyria that has a diffuse anterior-posterior gradient with cerebellar hypoplasia, thinning corpus callosum, and absent anterior commissure. 61
30537274 2018
85
Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study. 61
30230717 2018
86
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. 61
29907476 2018
87
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG). 61
30019980 2018
88
Bergmann glial Sonic hedgehog signaling activity is required for proper cerebellar cortical expansion and architecture. 61
29792854 2018
89
Antenatal Diagnosis of Fetal Retinoid Syndrome at 20 Weeks of Gestation: A Case Report. 61
29843537 2018
90
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1. 61
29521454 2018
91
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia. 61
29510240 2018
92
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. 61
30032983 2018
93
Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region. 61
29988670 2018
94
SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment. 61
30275942 2018
95
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations. 61
29666984 2018
96
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 61
29663667 2018
97
Utility of fetal anteroposterior to transverse cerebellar diameter ratio to exclude cerebellar hypoplasia in trisomy 18. 61
29517144 2018
98
METTL3-mediated m6A modification is required for cerebellar development. 61
29879109 2018
99
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. 61
29501407 2018
100
Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population. 61
29535107 2018
101
Sonic Hedgehog Agonist Protects Against Complex Neonatal Cerebellar Injury. 61
29134361 2018
102
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma. 61
29551561 2018
103
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction. 61
29426960 2018
104
Neuronal Vacuolization in Feline Panleukopenia Virus Infection. 61
29157191 2018
105
Persistence of Zika Virus After Birth: Clinical, Virological, Neuroimaging, and Neuropathological Documentation in a 5-Month Infant With Congenital Zika Syndrome. 61
29346650 2018
106
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome. 61
29265763 2018
107
Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know. 61
29112993 2018
108
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. 61
29379881 2018
109
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 61
29290337 2018
110
Nonprogressive congenital ataxias. 61
29891079 2018
111
Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome. 61
29386918 2018
112
Colonic Angioectasia in an Adolescent Boy with Hoyeraal-Hreidarsson on Long-Term Anabolic Steroid Therapy. 61
29383307 2018
113
Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model. 61
29444170 2018
114
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. 61
29171184 2018
115
Congenital Zika virus infection: a neuropathological review. 61
29167994 2018
116
Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia. 61
29171036 2018
117
A rare case of fetal extensive intracranial hemorrhage and whole-cerebral hypoplasia due to latent maternal vitamin K deficiency. 61
29843264 2018
118
A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation. 61
29258560 2017
119
Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome. 61
29168327 2017
120
Systemic inflammation combined with neonatal cerebellar haemorrhage aggravates long-term structural and functional outcomes in a mouse model. 61
28755859 2017
121
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome. 61
29162129 2017
122
Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography. 61
28940600 2017
123
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. 61
29096665 2017
124
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. 61
28815891 2017
125
Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins. 61
29081935 2017
126
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. 61
28581210 2017
127
A Retrospective Study of Cytogenetic Results From Amniotic Fluid in 5328 Fetuses With Abnormal Obstetric Sonographic Findings. 61
28523762 2017
128
Dandy-Walker Malformation Presenting with Affective Symptoms. 61
29033643 2017
129
Molecular detection and genetic analysis of Akabane virus genogroup Ib in small ruminants in Turkey. 61
28478578 2017
130
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder. 61
28589944 2017
131
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly. 61
28944139 2017
132
Valnoctamide Inhibits Cytomegalovirus Infection in Developing Brain and Attenuates Neurobehavioral Dysfunctions and Brain Abnormalities. 61
28630251 2017
133
Enlarged posterior fossa on prenatal imaging: differential diagnosis, associated anomalies and postnatal outcome. 61
28295149 2017
134
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. 61
28761539 2017
135
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. 61
28264986 2017
136
Global Alert: Zika Virus-an Emerging Arbovirus. 61
28638259 2017
137
Zika virus detected in amniotic fluid and umbilical cord blood in an in vitro fertilization-conceived pregnancy in Venezuela. 61
28390691 2017
138
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. 61
28488678 2017
139
Three families with mild PMM2-CDG and normal cognitive development. 61
28425223 2017
140
Aicardi-Goutières syndrome: unusual neuro-radiological manifestations. 61
28332073 2017
141
Right-sided aortic arch in the age of microarray. 61
28207948 2017
142
Lessons Learned at the Epicenter of Brazil's Congenital Zika Epidemic: Evidence From 87 Confirmed Cases. 61
28329257 2017
143
Foramina parietalia permagna: familial and radiological evaluation of two cases and review of literature. 61
27975139 2017
144
Prenatal imaging findings in fetal Zika virus infection. 61
28134669 2017
145
[The cerebellum as a major player in motor disturbances related to Autistic Syndrome Disorders]. 61
27616580 2017
146
Novel insights into SLC25A46-related pathologies in a genetic mouse model. 61
28376086 2017
147
Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme. 61
28317875 2017
148
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. 61
28139025 2017
149
The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression. 61
28165338 2017
150
Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. 61
28087826 2017
151
Wnt5a is a crucial regulator of neurogenesis during cerebellum development. 61
28205531 2017
152
Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast. 61
27777260 2017
153
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. 61
27983999 2017
154
C-Terminal Region Truncation of RELN Disrupts an Interaction with VLDLR, Causing Abnormal Development of the Cerebral Cortex and Hippocampus. 61
28123028 2017
155
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. 61
28013290 2017
156
Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies. 61
28095086 2017
157
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking. 61
28467418 2017
158
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. 61
27858371 2017
159
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 61
28783747 2017
160
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's. 61
27862915 2017
161
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency. 61
27783170 2017
162
Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs with VLDLR-Associated Genetic Cerebellar Hypoplasia. 61
29404343 2017
163
Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG). 61
29492447 2017
164
Clinical and Molecular Heterogeneity of RTEL1 Deficiency. 61
28507545 2017
165
Repeated prenatal exposure to valproic acid results in cerebellar hypoplasia and ataxia. 61
27984183 2017
166
Congenital Zika Virus Infection: Beyond Neonatal Microcephaly. 61
27695855 2016
167
RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes. 61
27000652 2016
168
SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature. 61
27444290 2016
169
Intracerebral Inoculation of Mouse-Passaged Saffold Virus Type 3 Affects Cerebellar Development in Neonatal Mice. 61
27581974 2016
170
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. 61
27799067 2016
171
ATR maintains chromosomal integrity during postnatal cerebellar neurogenesis and is required for medulloblastoma formation. 61
27803059 2016
172
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations. 61
29296694 2016
173
The many faces of paediatric mitochondrial disease on neuroimaging. 61
27449766 2016
174
T-Cells Underlie Some but Not All of the Cerebellar Pathology in a Neonatal Rat Model of Congenital Lymphocytic Choriomeningitis Virus Infection. 61
27667772 2016
175
Cerebellar disruptions and neurodevelopmental disabilities. 61
27184462 2016
176
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. 61
27769281 2016
177
Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function. 61
27727273 2016
178
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature. 61
27582535 2016
179
Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1. 61
27306358 2016
180
Cell death and neurodegeneration in the postnatal development of cerebellar vermis in normal and Reeler mice. 61
26931496 2016
181
Genetic Basis of Brain Malformations. 61
27781032 2016
182
Clinical and Imaging Findings in an Infant With Zika Embryopathy. 61
27193747 2016
183
Prenatal Cerebellar Disruptions: Neuroimaging Spectrum of Findings in Correlation with Likely Mechanisms and Etiologies of Injury. 61
27423799 2016
184
Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function. 61
27160703 2016
185
Delayed rotation of the cerebellar vermis: a pitfall in early second-trimester fetal magnetic resonance imaging. 61
26482947 2016
186
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. 61
27108886 2016
187
Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment. 61
27164360 2016
188
Polycomb Ezh2 controls the fate of GABAergic neurons in the embryonic cerebellum. 61
27068104 2016
189
Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability. 61
27146843 2016
190
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. 61
26970947 2016
191
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. 61
26805434 2016
192
RARS2 mutations in a sibship with infantile spasms. 61
27061686 2016
193
Rub Evoked Reflex Epilepsy in an Infant With Cerebellar Hypoplasia. 61
27268764 2016
194
Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution. 61
26659337 2016
195
Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome. 61
26825811 2016
196
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry. 61
26242992 2016
197
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. 61
27099744 2016
198
The wide-ranging clinical implications of the short telomere syndromes. 61
26247919 2016
199
Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2. 61
27000979 2016
200
X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner. 61
27036546 2016
201
MicroRNA Biogenesis and Hedgehog-Patched Signaling Cooperate to Regulate an Important Developmental Transition in Granule Cell Development. 61
26773048 2016
202
Long-term survival of full trisomy 13 in a 14 year old male: a case report. 61
27010151 2016
203
[Trisomy 18 syndrome: A case report]. 61
26460083 2016
204
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. 61
26810774 2016
205
Tubulinopathies Overview 61
27010057 2016
206
Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging. 61
26608601 2016
207
Feline panleukopenia virus in cerebral neurons of young and adult cats. 61
26895627 2016
208
Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities. 61
26166429 2016
209
The Immp2l mutation causes age-dependent degeneration of cerebellar granule neurons prevented by antioxidant treatment. 61
26616244 2016
210
Alterations of Cell Proliferation and Apoptosis in the Hypoplastic Reeler Cerebellum. 61
27252624 2016
211
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. 61
26599961 2016
212
RELN Mutations in Autism Spectrum Disorder. 61
27064498 2016
213
Congenital cerebral malformations and dysfunction in fetuses and newborns following the 2013 to 2014 Zika virus epidemic in French Polynesia. 61
27063794 2016
214
A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18. 61
26669480 2016
215
Reduced Myelination and Increased Glia Reactivity Resulting from Severe Neonatal Hyperbilirubinemia. 61
26480925 2016
216
Creation of a cerebellar diameter reference standard and its clinical application to the detection of cerebellar hypoplasia unique to trisomy 18. 61
26310287 2015
217
Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1. 61
25728839 2015
218
Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update. 61
26444039 2015
219
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. 61
26290468 2015
220
TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation. 61
26294046 2015
221
Ratio of fetal anteroposterior to transverse cerebellar diameter for detection of the cerebellar hypoplasia in the second trimester and comparison with trisomy 18. 61
26311297 2015
222
Enlargement of the Internal Auditory Canal and Associated Posterior Fossa Anomalies in PHACES Association. 61
26159514 2015
223
Report of a case of Raine syndrome and literature review. 61
25974638 2015
224
Late-onset epileptic spasms in a female patient with a CASK mutation. 61
25765806 2015
225
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. 61
26340333 2015
226
Virus-induced congenital malformations in cattle. 61
26399846 2015
227
MRI or not to MRI! Should brain MRI be a routine investigation in children with autistic spectrum disorders? 61
25344829 2015
228
Choline Ameliorates Deficits in Balance Caused by Acute Neonatal Ethanol Exposure. 61
26085462 2015
229
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 61
25047097 2015
230
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. 61
26083569 2015
231
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. 61
25855803 2015
232
Effect of methotrexate on cerebellar development in infant rats. 61
25754651 2015
233
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. 61
26046367 2015
234
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. 61
25873735 2015
235
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. 61
26701950 2015
236
Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome. 61
26265907 2015
237
Systemic inflammation in early neonatal mice induces transient and lasting neurodegenerative effects. 61
25924675 2015
238
Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts. 61
23864587 2015
239
Response to correspondence on "lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts". 61
25805803 2015
240
Phenotypic and molecular insights into CASK-related disorders in males. 61
25886057 2015
241
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. 61
25612912 2015
242
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 61
25560765 2015
243
Structural and functional outcomes of anaesthetic cornea in children. 61
25228441 2015
244
Lack of parvalbumin in mice leads to behavioral deficits relevant to all human autism core symptoms and related neural morphofunctional abnormalities. 61
25756808 2015
245
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 61
25609191 2015
246
Axial level-specific regulation of neuronal development: lessons from PITX2. 61
25124216 2015
247
Reduced phosphorylation of synapsin I in the hippocampus of Engrailed-2 knockout mice, a model for autism spectrum disorders. 61
25463523 2015
248
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 61
25658047 2015
249
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. 61
25561519 2015
250
Increased expressions of ADAMTS-13, neuronal nitric oxide synthase, and neurofilament correlate with severity of neuropathology in Border disease virus-infected small ruminants. 61
25799514 2015
251
Neuro-imaging findings in infants with congenital cytomegalovirus infection: relation to trimester of infection. 61
25790782 2015
252
Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study. 61
25668516 2015
253
A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM). 61
25668033 2015
254
Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene. 61
25684977 2015
255
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. 61
26052266 2015
256
6q21-22 deletion syndrome with interrupted aortic arch. 61
27081529 2015
257
Terminology in morphological anomalies of the cerebellum does matter. 61
26331051 2015
258
Unilateral cerebellar and brain stem hypoplasia in a child with a postnatal diagnosis of dissecting aneurysm in basilar artery. 61
25098833 2014
259
Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growth. 61
25513817 2014
260
Counseling a patient with the antenatal diagnosis of a cerebellar abnormality and a pharyngeal cyst. 61
25452890 2014
261
Neuropathologic features of pontocerebellar hypoplasia type 6. 61
25289895 2014
262
Neuropathological microscopic features of abortions induced by Bunyavirus / or Flavivirus infections. 61
25425524 2014
263
Restoration of corneal sensation with regional nerve transfers and nerve grafts: a new approach to a difficult problem. 61
25010775 2014
264
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 61
25233904 2014
265
Interhypothalamic adhesion: a series of 13 cases. 61
24874532 2014
266
Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. 61
24185815 2014
267
Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum. 61
25015868 2014
268
Postnatally diagnosed agenesis of corpus callosum in fetuses. 61
24833489 2014
269
Feline parvovirus infection and associated diseases. 61
24923754 2014
270
Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report. 61
25053001 2014
271
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 61
24556213 2014
272
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation. 61
24700531 2014
273
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. 61
24989451 2014
274
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. 61
25059107 2014
275
Cerebellar hypoplasia: differential diagnosis and diagnostic approach. 61
24839100 2014
276
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 61
24860126 2014
277
Glutamate dysfunction associated with developmental cerebellar damage: relevance to autism spectrum disorders. 61
24307139 2014
278
Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts. 61
23625088 2014
279
A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations. 61
24105372 2014
280
Cerebellar hypoplasia in mice lacking selenoprotein biosynthesis in neurons. 61
24599700 2014
281
Ophthalmic findings in an infant with phosphomannomutase deficiency. 61
24493206 2014
282
Systemic glycerol decreases neonatal rabbit brain and cerebellar growth independent of intraventricular hemorrhage. 61
24346111 2014
283
[Pathologic-anatomical changes in newborn goats caused by an intrauterine Schmallenberg virus infection]. 61
24693655 2014
284
Role of cerebral ultrasound and magnetic resonance imaging in newborns with congenital cytomegalovirus infection. 61
23647916 2014
285
C5orf42 is the major gene responsible for OFD syndrome type VI. 61
24178751 2014
286
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors. 61
25343120 2014
287
Effect of feeding graded doses of Citrinin on clinical and teratology in female Wistar rats. 61
24597149 2014
288
Evaluation and prevalence of major central nervous system malformations: a retrospective study. 61
28058307 2014
289
Schizophrenia-like psychosis and dandy-walker variant comorbidity: case report. 61
24605131 2014
290
A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23. 61
24575028 2014
291
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. 61
25452764 2014
292
Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors. 61
25251415 2014
293
Activation of cerebellar lobules VI-VII during motor imagery but not during motor activation in unilateral cerebellar hypoplasia. 61
26331030 2014
294
Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development. 61
24637888 2014
295
Neuroimaging findings in a series of children with cerebral palsy and congenital cytomegalovirus infection. 61
25809629 2014
296
Human quadrupeds, primate quadrupedalism, and Uner Tan Syndrome. 61
25029457 2014
297
Cerebellar cortical lamination and foliation require cyclin A2. 61
24184637 2014
298
MRI analysis of cerebellar and vestibular developmental phenotypes in Gbx2 conditional knockout mice. 61
23400959 2013
299
Cerebellar hypoplasia in a case with neurofibromatosis type 1. 61
24311430 2013
300
Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity. 61
24321428 2013
301
CASK Disorders 61
24278995 2013
302
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. 61
24056535 2013
303
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. 61
24228726 2013
304
Severe second-trimester obstructive ventriculomegaly related to disorders of diencephalic, mesencephalic and rhombencephalic differentiation. 61
23371522 2013
305
Late diagnosis of fetal central nervous system anomalies following a normal second trimester anatomy scan. 61
23712473 2013
306
Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences. 61
24027500 2013
307
Size does not always matter: Ts65Dn Down syndrome mice show cerebellum-dependent motor learning deficits that cannot be rescued by postnatal SAG treatment. 61
24068809 2013
308
Potential mechanisms of cerebellar hypoplasia in prematurity. 61
23842990 2013
309
N-methyl-N-nitrosourea-induced cerebellar hypoplasia in rats: Effect of arachidonic acid supplementation during the gestational, lactational and post-weaning periods. 61
24137238 2013
310
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs. 61
23938146 2013
311
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. 61
23749989 2013
312
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 61
24009516 2013
313
Challenges of diagnostic exome sequencing in an inbred founder population. 61
24498604 2013
314
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 61
23564332 2013
315
Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes. 61
23500598 2013
316
Identification of feline panleukopenia virus proteins expressed in Purkinje cell nuclei of cats with cerebellar hypoplasia. 61
23159676 2013
317
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. 61
23562994 2013
318
[Prenatal MRI as a method of controlling fetal pathology]. 61
24032261 2013
319
A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. 61
23538340 2013
320
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia. 61
23416624 2013
321
Common partner Smad-independent canonical bone morphogenetic protein signaling in the specification process of the anterior rhombic lip during cerebellum development. 61
23459943 2013
322
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. 61
23283079 2013
323
Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case. 61
23956587 2013
324
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 61
23329068 2013
325
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. 61
22532556 2013
326
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. 61
22633752 2013
327
Schmallenberg virus, a novel orthobunyavirus infection in ruminants in Europe: potential global impact and preventive measures. 61
23215779 2013
328
Magnetic resonance imaging and brainstem auditory evoked responses in the diagnosis of cerebellar cortical degeneration in american staffordshire terriers. 61
23439286 2013
329
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 61
23361065 2013
330
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. 61
23292994 2013
331
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: a note of doubt. 61
23345526 2013
332
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: no doubt. 61
23345527 2013
333
Unilateral cerebellar hypoplasia and mesencephalic malformation in a Hanoverian foal. 61
23608891 2013
334
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. 61
24260534 2013
335
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. 61
24098143 2013
336
Neuropsychological evaluation in an adolescent with cerebellar hypoplasia diagnosed with Asperger's Syndrome. 61
22506855 2013
337
Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius). 61
22508700 2013
338
A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification. 61
23817307 2013
339
Alterations in the cell cycle in the cerebellum of hyperbilirubinemic Gunn rat: a possible link with apoptosis? 61
24223883 2013
340
Perosomus elumbis in a Holstein calf infected with bovine viral diarrhea virus. 61
24326794 2013
341
MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. 61
23901204 2013
342
Dab2IP GTPase activating protein regulates dendrite development and synapse number in cerebellum. 61
23326475 2013
343
Diffuse malformations of cortical development. 61
23622213 2013
344
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. 61
23165780 2012
345
The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a. 61
22723063 2012
346
Craniospinal abnormalities and neurologic complications of osteogenesis imperfecta: imaging overview. 61
23150860 2012
347
Purkinje cell loss and motor coordination defects in profilin1 mutant mice. 61
22864186 2012
348
Congenital torticollis due to sternomastoid aplasia with unilateral cerebellar hypoplasia: a rare association. 61
21997867 2012
349
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype. 61
22903806 2012
350
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. 61
22973972 2012
351
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. 61
22709267 2012
352
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero. 61
22241708 2012
353
Patterns of cognitive and fine motor deficits in a case of Dandy-Walker continuum. 61
22241712 2012
354
Salient lesions in domestic ruminants infected with the emerging so-called Schmallenberg virus in Germany. 61
22610033 2012
355
Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development. 61
22513377 2012
356
Prenatal diagnosis and outcome of fetal posterior fossa fluid collections. 61
22173885 2012
357
Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature. 61
22529034 2012
358
Neurological findings in incontinentia pigmenti; a review. 61
22564885 2012
359
Proper cerebellar development requires expression of β1-integrin in Bergmann glia, but not in granule neurons. 61
22374686 2012
360
RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion. 61
22095278 2012
361
Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations. 61
22419357 2012
362
Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development. 61
21959375 2012
363
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita. 61
22078571 2012
364
SOX10 mutation with peripheral amyelination and developmental disturbance of axons. 61
22246888 2012
365
Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification. 61
21940696 2012
366
Epidemiological study of fowl glioma-inducing virus in chickens in Asia and Germany. 61
22702458 2012
367
Role of the actin-binding protein profilin1 in radial migration and glial cell adhesion of granule neurons in the cerebellum. 61
22647936 2012
368
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. 61
22243965 2012
369
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). 61
21735175 2012
370
Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. 61
23028714 2012
371
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12. 61
21893220 2012
372
The fetal cerebellum: development and common malformations. 61
21954430 2011
373
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. 61
22002884 2011
374
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. 61
21885617 2011
375
Profilin1 is required for glial cell adhesion and radial migration of cerebellar granule neurons. 61
22081137 2011
376
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion. 61
21826524 2011
377
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family. 61
21796728 2011
378
Phenotypic spectrum associated with CASK loss-of-function mutations. 61
21954287 2011
379
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. 61
21910224 2011
380
Three cases of cerebellar hypoplasia and vitamin a deficiency: a case report and a possible pathophysiology. 61
21464234 2011
381
Pathogenicity of avian leukosis viruses related to fowl glioma-inducing virus. 61
21854177 2011
382
Generalized encephalitozoonosis in a young kitten with cerebellar hypoplasia. 61
21310430 2011
383
Pyridoxine supply in human development. 61
21664474 2011
384
Clinical and imaging observations in isolated sulfite oxidase deficiency. 61
21572056 2011
385
Brain magnetic resonance findings in symptomatic congenital cytomegalovirus infection. 61
21597906 2011
386
Disruption of metabotropic glutamate receptor signalling is a major defect at cerebellar parallel fibre-Purkinje cell synapses in staggerer mutant mice. 61
21558162 2011
387
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. 61
21623382 2011
388
Congenital infection-like syndrome with intracranial calcification. 61
20926212 2011
389
Congenital hydranencephaly and cerebellar hypoplasia in water buffalo in southern Brazil. 61
21908300 2011
390
X-linked disorders with cerebellar dysgenesis. 61
21569638 2011
391
Neuropathologic study of border disease virus in naturally infected fetal and neonatal small ruminants and its association with apoptosis. 61
20460448 2011
392
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance. 61
20528889 2011
393
Unilateral cerebellar hypoplasia with different clinical features. 61
20967575 2011
394
[Analysis of the clinical manifestations and magnetic resonance imaging features of 11 patients with lissencephaly]. 61
21421488 2011
395
si-RNA inhibition of brain insulin or insulin-like growth factor receptors causes developmental cerebellar abnormalities: relevance to fetal alcohol spectrum disorder. 61
21443795 2011
396
An unusual case of hydranencephaly presenting with an anterior midline cyst, a posterior calcified mass, cerebellar hypoplasia and occlusion of the posterior cerebral arteries. 61
21104240 2011
397
Dystocia and fetotomy associated with cerebral aplasia in a greater one-horned rhinoceros (Rhinoceros unicornis). 61
20412510 2011
398
Re-evaluation of the dysequilibrium syndrome. 61
20199520 2011
399
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 61
20952379 2011
400
Malformations of cortical development in children with congenital cytomegalovirus infection - A study of nine children with proven congenital cytomegalovirus infection. 61
21648339 2011
401
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. 61
20929962 2010
402
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. 61
20852264 2010
403
Neuroradiologic features of CASK mutations. 61
20595373 2010
404
Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome. 61
20670678 2010
405
Posterior fossa imaging in 158 children with ataxia. 61
20378176 2010
406
Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. 61
20653033 2010
407
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. 61
20729831 2010
408
Identification of genomic loci contributing to agenesis of the corpus callosum. 61
20683985 2010
409
Cerebellar hypoplasia and Cohen syndrome: a confirmed association. 61
20683995 2010
410
Dyskeratosis congenita. 61
20493861 2010
411
Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. 61
20573748 2010
412
Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea. 61
20620061 2010
413
TBX2 gene duplication associated with complex heart defect and skeletal malformations. 61
20635360 2010
414
Outcome of severe unilateral cerebellar hypoplasia. 61
19863638 2010
415
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. 61
20082205 2010
416
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. 61
20466733 2010
417
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. 61
20376468 2010
418
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. 61
20029458 2010
419
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age. 61
20219702 2010
420
A novel L1CAM mutation in a fetus detected by prenatal diagnosis. 61
19685344 2010
421
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. 61
20398363 2010
422
Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 --> qter. 61
20186810 2010
423
Parvovirus-associated cerebellar hypoplasia and hydrocephalus in day old broiler chickens. 61
20408417 2010
424
Comparing noninvasive dense array and intracranial electroencephalography for localization of seizures. 61
20087136 2010
425
Prevalence of antibodies against Kilham virus in experimental rat colonies of Argentina. 61
20461290 2010
426
A case of otocephaly with anencephaly and meningomyelocele. 61
20964124 2010
427
[Fetal ventriculomegaly: diagnosis using magnetic resonance imaging and its prognosis]. 61
20367921 2010
428
SUNCT syndrome or first division trigeminal neuralgia associated with cerebellar hypoplasia. 61
19760043 2009
429
Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation. 61
19165618 2009
430
Persistent adeno-associated virus 2 and parvovirus B19 sequences in post-mortem human cerebellum. 61
19585179 2009
431
Brainstem disconnection. 61
19669743 2009
432
Dyskeratosis Congenita 61
20301779 2009
433
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. 61
19901254 2009
434
Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies. 61
19731360 2009
435
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). 61
19332571 2009
436
Hoyeraal-Hreidarsson syndrome: magnetic resonance imaging findings. 61
19856229 2009
437
Malformations of the midbrain and hindbrain: a retrospective study and review of the literature. 61
19337779 2009
438
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. 61
19770472 2009
439
Morphological spectrum of prenatal cerebellar disruptions. 61
18945628 2009
440
Prenatal diagnosis of cri-du-chat syndrome: importance of ultrasonographical markers. 61
19495505 2009
441
The wobbly cat. Diagnostic and therapeutic approach to generalised ataxia. 61
19389635 2009
442
99-mTc-HMPAO single photon emission computed tomography examinations in genetically determined neurometabolic disorders. 61
19579665 2009
443
Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. 61
19191827 2009
444
PHACE syndrome associated with congenital oculomotor nerve palsy. 61
19551563 2009
445
Unilateral cerebellar hypoplasia. 61
19881071 2009
446
The fetal cerebellum. Pitfalls in diagnosis and management. 61
19194867 2009
447
Prenatal diagnosis of posterior fossa anomalies--an overview. 61
19623847 2009
448
Bilateral posterior periventricular nodular heterotopia with cerebellar hypoplasia, communicating hydrocephalus and bilateral hippocampal sclerosis. A case report. 61
24206947 2009
449
Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development. 61
19331679 2009
450
Nephronophthisis: disease mechanisms of a ciliopathy. 61
19118152 2009
451
Sensorimotor enhancement in mouse mutants lacking the Purkinje cell-specific Gi/o modulator, Pcp2(L7). 61
18930827 2009
452
Cerebellar hypoplasia, continuous spike-waves during sleep, and neuropsychological and behavioral disorders. 61
19073855 2008
453
Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature. 61
19006213 2008
454
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]. 61
18808783 2008
455
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. 61
18954413 2008
456
Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. 61
18925673 2008
457
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. 61
18728072 2008
458
Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia. 61
18521588 2008
459
[MRI diagnosis and analysis of 104 cases of fetal ventriculomegaly by ultrasonography]. 61
19087516 2008
460
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. 61
19165920 2008
461
Ethanol impaired neuronal migration is associated with reduced aspartyl-asparaginyl-beta-hydroxylase expression. 61
18478238 2008
462
Comparison between ultrasound and magnetic resonance imaging in assessment of fetal cytomegalovirus infection. 61
18551722 2008
463
VLDLR Cerebellar Hypoplasia 61
20301729 2008
464
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. 61
18513969 2008
465
Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. 61
18544652 2008
466
Cerebellar vermian hypoplasia in a Cocker Spaniel. 61
18487946 2008
467
Trisomy 18 syndrome with incomplete Cantrell syndrome. 61
18947004 2008
468
Differential diagnosis of cerebellar atrophy in childhood. 61
17869142 2008
469
Inherited 18q23 duplication in a fetus with multiple congenital anomalies. 61
18282818 2008
470
[Cerebellar hypoplasia and vertebral indentations in a case of neurofibromatosis type I]. 61
18465703 2008
471
Cerebellar hypoplasia in a clinically suspected but unconfirmed case of BSE in a cow. 61
18480025 2008
472
"Unertan syndrome" in two Turkish families in relation to devolution and emergence of Homo erectus: neurological examination, MRI, and PET scans. 61
18300005 2008
473
Concurrent peste des petits ruminants virus and pestivirus infection in stillborn twin lambs. 61
18424832 2008
474
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. 61
18326629 2008
475
X-linked congenital ataxia: a new locus maps to Xq25-q27.1. 61
18241076 2008
476
The role of thioredoxin reductases in brain development. 61
18350150 2008
477
Deletion of the OPHN1 gene detected by aCGH. 61
18261018 2008
478
Cerebellar disorders in childhood: cognitive problems. 61
19057977 2008
479
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. 61
17975804 2007
480
Congenital viral infections of the brain: lessons learned from lymphocytic choriomeningitis virus in the neonatal rat. 61
18052527 2007
481
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. 61
17923109 2007
482
What does magnetic resonance imaging add to the prenatal sonographic diagnosis of ventriculomegaly? 61
17957045 2007
483
The neuroradiological findings in a case of Revesz syndrome. 61
17874088 2007
484
Naturally occurring parvovirus-associated feline hypogranular cerebellar hypoplasia-- A comparison to experimentally-induced lesions using immunohistology. 61
18039896 2007
485
Congenital lymphocytic choriomeningitis virus infection: spectrum of disease. 61
17557350 2007
486
A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters. 61
17764080 2007
487
Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool. 61
17804638 2007
488
Severe cerebellar hypoplasia associated with osteogenesis imperfecta type III. 61
17719950 2007
489
Insulin and insulin-like growth factor resistance with neurodegeneration in an adult chronic ethanol exposure model. 61
17645580 2007
490
Cerebellar cortical degeneration with selective granule cell loss in Bavarian mountain dogs. 61
17663663 2007
491
Pediatric periodic alternating gaze deviation with midline cerebellar disease. 61
17280848 2007
492
Brainstem disconnection: case report and review of the literature. 61
18058632 2007
493
Prenatal diagnosis of complete trisomy 19q. 61
17437325 2007
494
Adams-Oliver syndrome: further evidence of an autosomal recessive variant. 61
17551326 2007
495
Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype. 61
17451957 2007
496
Down syndrome gene dosage imbalance on cerebellum development. 61
17408845 2007
497
Chronic ethanol exposure causes mitochondrial dysfunction and oxidative stress in immature central nervous system neurons. 61
17431646 2007
498
[Genetic and clinical aspects of lissencephaly]. 61
17571022 2007
499
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. 61
17431900 2007
500
Citrinin and endosulfan induced teratogenic effects in Wistar rats. 61
17186572 2007
501
Minocycline blocks acute bilirubin-induced neurological dysfunction in jaundiced Gunn rats. 61
17556840 2007
502
The cerebellum in cognitive processes: supporting studies in children. 61
17786820 2007
503
Language and social communication in children with cerebellar dysgenesis. 61
17627129 2007
504
Isolated unilateral cerebellar hypoplasia. A case report. 61
24351262 2006
505
Cerebellar hypoplasia in three sibling cats after intrauterine or early postnatal parvovirus infection. 61
17147149 2006
506
Spinocerebellar Ataxia Type 13 61
20301404 2006
507
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. 61
17036343 2006
508
"Staircase" saccadic intrusions plus transient yoking and neural integrator failure associated with cerebellar hypoplasia: a model simulation. 61
17182411 2006
509
Clinical spectrum associated with some structural cerebellar abnormalities. 61
22266436 2006
510
Damage to the human cerebellum from prenatal alcohol exposure: the anatomy of a simple biometrical explanation. 61
16955499 2006
511
Chronic gestational exposure to ethanol causes insulin and IGF resistance and impairs acetylcholine homeostasis in the brain. 61
16909201 2006
512
Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia. 61
16970885 2006
513
A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. 61
16376507 2006
514
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 61
16684786 2006
515
Cerebellar involvement in midline facial defects with ocular hypertelorism. 61
16854205 2006
516
Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome. 61
16801186 2006
517
[Cerebellar ataxia of Norman-Jaeken. Presentation of seven Spanish patients]. 61
16775797 2006
518
Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. 61
16528742 2006
519
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. 61
16371500 2006
520
Cerebellar hypoplasia associated with an avian leukosis virus inducing fowl glioma. 61
16672576 2006
521
Brainstem and cerebellar hypoplasia associated with osteogenesis imperfecta type-5. 61
16679688 2006
522
Cerebellar ataxia with progressive improvement. 61
16606775 2006
523
Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter). 61
16506269 2006
524
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. 61
16541364 2006
525
Biometry of face and brain in fetuses with trisomy 21. 61
16326987 2006
526
Neurodevelopmental implications of ocular motor apraxia. 61
16288671 2005
527
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 61
15894594 2005
528
Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20. 61
16359498 2005
529
Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families. 61
16158428 2005
530
Autosomal recessive cerebellar hypoplasia in the Hutterite population. 61
16174313 2005
531
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. 61
16080122 2005
532
Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. 61
16091512 2005
533
PMM2-CDG (CDG-Ia) 61
20301289 2005
534
Pontomedullary disconnection: fetal and neonatal considerations. 61
15812634 2005
535
Minocycline blocks bilirubin neurotoxicity and prevents hyperbilirubinemia-induced cerebellar hypoplasia in the Gunn rat. 61
16029192 2005
536
Prenatal diagnosis of chromosome 4 mosaicism: prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization. 61
15940687 2005
537
Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity. 61
15832356 2005
538
Mitochondrial dysfunction in a patient with Joubert syndrome. 61
15944909 2005
539
Walker-Warburg syndrome: diffusion MR imaging. 61
16134304 2005
540
Fetal hydrocephalus, intrauterine diagnosis and therapy considerations: an experimental rat model. 61
15703970 2005
541
Ethanol inhibits insulin expression and actions in the developing brain. 61
15870954 2005
542
Clinicopathological features of globoid cell leucodystrophy in cats. 61
15893994 2005
543
Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. 61
16053913 2005
544
Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. 61
15672385 2005
545
Marinesco-Sjögren syndrome in a male with mild dysmorphism. 61
15633176 2005
546
Severe lethal spinal muscular atrophy variant with arthrogryposis. 61
15730903 2005
547
Non-progressive congenital ataxia with cerebellar hypoplasia in three families. 61
15981765 2005
548
Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia. 61
15794192 2005
549
Prenatal diagnosis of Juberg-Hayward syndrome. 61
15712337 2005
550
Midbrain disconnection: an aetiology of severe central neonatal hypotonia. 61
16055359 2005
551
Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome? 61
15844787 2005
552
Genetic malformations of the cerebral cortex and epilepsy. 61
15816977 2005
553
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. 61
15623688 2004
554
Microcephaly associated with abnormal gyral pattern. 61
15627942 2004
555
Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism. 61
15481034 2004
556
Arthrogryposis, hydranencephaly and cerebellar hypoplasia syndrome in neonatal calves resulting from intrauterine infection with Aino virus. 61
15369656 2004
557
Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. 61
15287060 2004
558
Severe abnormalities of the pons in two infants with goldenhar syndrome. 61
15328563 2004
559
Screening for CDG type Ia in Joubert syndrome. 61
15277997 2004
560
Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases. 61
15303808 2004
561
[Molecular genetic analysis of hereditary neurodegenerative diseases]. 61
15341272 2004
562
A case of cerebellar hypoplasia in a Chinese infant with osteogenesis imperfecta. 61
15181228 2004
563
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. 61
15103730 2004
564
Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions. 61
15098235 2004
565
The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection. 61
15127310 2004
566
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 61
14722918 2004
567
Prenatal diagnosis of mosaic distal 5p deletion and review of the literature. 61
14755410 2004
568
Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. 61
14566414 2004
569
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). 61
14648217 2003
570
Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia. 61
13129599 2003
571
Use of fetal magnetic resonance imaging in patients electing termination of pregnancy by dilation and evacuation. 61
14586341 2003
572
Prenatal ultrasound and magnetic resonance imaging in fetal varicella syndrome: correlation with pathology findings. 61
12975778 2003
573
Biliary atresia and cerebellar hypoplasia in polysplenia syndrome. 61
12830335 2003
574
Reelin-immunoreactive neurons, axons, and neuropil in the adult ferret brain: evidence for axonal secretion of reelin in long axonal pathways. 61
12811805 2003
575
Evidence of parvovirus replication in cerebral neurons of cats. 61
12904392 2003
576
Fetal cerebellar hemorrhage in a severely growth-restricted fetus: natural history and differential diagnosis from Dandy-Walker malformation. 61
12905514 2003
577
DNA testing in patients with GH deficiency at the time of transition. 61
12914740 2003
578
[Failure to thrive and intestinal diseases in congenital disorders of glycosylation]. 61
12907065 2003
579
Posterior fossa abnormalities seen on magnetic resonance brain imaging in a cohort of newborn infants. 61
12847536 2003
580
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). 61
12833411 2003
581
Ethanol impairs insulin-stimulated neuronal survival in the developing brain: role of PTEN phosphatase. 61
12700235 2003
582
Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation. 61
12833408 2003
583
Polymerase chain reaction (PCR) amplification of parvoviral DNA from the brains of dogs and cats with cerebellar hypoplasia. 61
12892305 2003
584
Cerebellar hypoplasia with heterotopic purkinje cells in the molecular layer and preservation of the granule layers associated with severe encephalopathy. A new entity? 61
12910442 2003
585
Clinical spectrum associated with cerebellar hypoplasia. 61
12878295 2003
586
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. 61
12687674 2003
587
Pathology of the umbilical cord in adrenal fusion syndrome. 61
12746175 2003
588
[Unilateral cerebellar hypoplasia: an alteration of vascular origin?]. 61
12717672 2003
589
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome. 61
12868478 2003
590
[At the crossroads between developmental and degenerative diseases: the cerebellar disorders of early infancy. Classification and practical approach]. 61
12773867 2003
591
Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia. 61
12690561 2003
592
Epilepsy, intelligence, and psychiatric disorders in patients with cerebellar hypoplasia. 61
12661930 2003
593
A fatal case of cerebellar hypoplasia associated with anterior horn cell disease. 61
12872823 2003
594
Documentation of anomalies not previously described in Fryns syndrome. 61
12494439 2003
595
[Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia]. 61
12920791 2003
596
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. 61
12410200 2002
597
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. 61
12207929 2002
598
Severe spinal muscular atrophy variant associated with congenital bone fractures. 61
12503654 2002
599
Analysis and classification of cerebellar malformations. 61
12169461 2002
600
Effects of genetic background on neonatal Borna disease virus infection-induced neurodevelopmental damage. I. Brain pathology and behavioral deficits. 61
12106670 2002
601
Deletion in Catna2, encoding alpha N-catenin, causes cerebellar and hippocampal lamination defects and impaired startle modulation. 61
12089526 2002
602
Outcome in children with space-occupying posterior fossa arachnoid cysts. 61
12200740 2002
603
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. 61
12118527 2002
604
Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings. 61
12002143 2002
605
[Carbohydrate-deficient-glycoprotein syndrome and ophthalmological manifestations]. 61
12011746 2002
606
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. 61
12185771 2002
607
Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome". 61
11998919 2002
608
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia. 61
11891694 2002
609
Pontocerebellar hypoplasia type 2 and Reye-like syndrome. 61
11952074 2002
610
Vanishing cerebellum in myelomeningocoele. 61
11995957 2002
611
Neuropathology of occipital horn syndrome. 61
11669352 2001
612
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. 61
11748497 2001
613
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. 61
11749114 2001
614
Provisionally unique autosomal recessive syndrome due to significant consanguinity. 61
11503158 2001
615
Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association. 61
11509849 2001
616
Diagnosis of cerebellar cortical degeneration in a Scottish terrier using magnetic resonance imaging. 61
11518422 2001
617
Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7). 61
11536263 2001
618
Fetal transcerebellar diameter and chromosomal abnormalities. 61
11422971 2001
619
Dandy-Walker syndrome: different modalities of treatment and outcome in 42 cases. 61
11417415 2001
620
Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. 61
11350185 2001
621
Evidence for a cerebellar role in reduced exploration and stereotyped behavior in autism. 61
11313033 2001
622
Chiari I malformation: clinical presentation and management. 61
11326624 2001
623
Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype. 61
11248459 2001
624
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). 61
11156536 2001
625
Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. 61
11170088 2001
626
De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21. 61
11332980 2001
627
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. 61
11134235 2001
628
Mouse models for the Wolf-Hirschhorn deletion syndrome. 61
11152656 2001
629
Epilepsy and genetic malformations of the cerebral cortex. 61
11579436 2001
630
[Joint presentation of facial hemangioma, posterior fossa malformation, and carotid-vertebral hypoplasia (Pascual-Castroviejo syndrome II): report of 2 new cases]. 61
11293099 2001
631
Alterations in neurotrophin and neurotrophin receptor gene expression patterns in the rat central nervous system following perinatal Borna disease virus infection. 61
11175319 2000
632
Periodic alternating nystagmus in two children with a similar, unusual phenotype. 61
11118801 2000
633
Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia. 61
11024435 2000
634
Fatal outcome in a case of pontocerebellar hypoplasia type 2. 61
10978619 2000
635
[Does the cerebellum play a part in cognitive processes?]. 61
11008292 2000
636
Assessment of fetal cerebellar volume using three-dimensional ultrasound. 61
10996698 2000
637
Unusual MRI findings in rhombencephalosynapsis. 61
10842053 2000
638
[Late symptomatic initiation of unilateral cerebellar hypoplasia]. 61
11002705 2000
639
Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome? 61
10842296 2000
640
A case of Høyeraal-Hreidarsson syndrome: delayed myelination and hypoplasia of corpus callosum are other important signs. 61
10963101 2000
641
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. 61
10852543 2000
642
Expression of the alpha and beta subunits of Ca2+/calmodulin kinase II in the cerebellum of jaundiced Gunn rats during development: a quantitative light microscopic analysis. 61
10787038 2000
643
Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. 61
10700701 2000
644
A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia. 61
10699141 2000
645
Brain hypoplasia caused by exposure to trichlorfon and dichlorvos during development can be ascribed to DNA alkylation damage and inhibition of DNA alkyltransferase repair. 61
10794396 2000
646
[Carbohydrate-deficient blood glycoprotein syndrome]. 61
10701064 2000
647
Cerebellar and frontal lobe hypoplasia in fetuses with trisomy 21: usefulness as combined US markers. 61
10671607 2000
648
Prenatally diagnosed sacrococcygeal teratoma: a unique expression of trisomy 1q. 61
10700874 2000
649
Neonatal diabetes: new insights into aetiology and implications. 61
10895036 2000
650
[Non-progressive familial congenital cerebellar hypoplasia]. 61
11057294 2000
651
Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. 61
10872105 2000
652
Studies of the candidate genes in X-linked congenital cerebellar hypoplasia. 61
10653312 1999
653
Familial lissencephaly with cleft palate and severe cerebellar hypoplasia. 61
10594886 1999
654
Central nervous system abnormalities assessed with prenatal magnetic resonance imaging. 61
10576192 1999
655
Cerebellar hypoplasia: could it be a sonographic finding of abnormal fetal karyotype in early pregnancy? 61
10640878 1999
656
Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family. 61
10528257 1999
657
Visual evoked potentials in the diagnosis of headache before 5 years of age. 61
10541943 1999
658
Screening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes. 61
10593562 1999
659
Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status. 61
10545041 1999
660
Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1. 61
10598835 1999
661
Clinical nosologic and genetic aspects of Joubert and related syndromes. 61
10511339 1999
662
Prenatal diagnosis of Meckel syndrome: a case report. 61
10533329 1999
663
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? 61
10514106 1999
664
Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome. 61
10507728 1999
665
Transverse cerebellar diameter on cranial ultrasound scan in preterm neonates in an Australian population. 61
10457289 1999
666
Nonneoplastic disorders of the brain. 61
10457657 1999
667
Transverse cerebellar diameter on cranial ultrasound scan in preterm neonates in an Australian population. 61
28871654 1999
668
Hydranencephaly and cerebellar hypoplasia in two kittens attributed to intrauterine parvovirus infection. 61
10373292 1999
669
Marshall-Smith syndrome: case report of a newborn male and review of the literature. 61
10457856 1999
670
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. 61
10439959 1999
671
Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification. 61
10340646 1999
672
Postmortem examination of two fragile X brothers with an FMR1 full mutation. 61
10331601 1999
673
Neuroanatomic contributions to slowed orienting of attention in children with autism. 61
10216274 1999
674
Encephalopathy in suckling mice infected with Kasba (Chuzan) virus. 61
10213669 1999
675
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. 61
10220862 1999
676
The Smith-Magenis syndrome: a new case with infant spasms. 61
10368569 1999
677
Viral teratogenesis: brain developmental damage associated with maturation state at time of infection. 61
9878758 1999
678
Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement. 61
10674160 1999
679
[Molecular analysis of hereditary nervous system diseases]. 61
10578663 1999
680
Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. 61
10029349 1998
681
Cloning and mapping of the UNC5C gene to human chromosome 4q21-q23. 61
9782087 1998
682
Disabled-1 acts downstream of Reelin in a signaling pathway that controls laminar organization in the mammalian brain. 61
9716537 1998
683
Neuroimaging manifestations and classification of congenital muscular dystrophies. 61
9763366 1998
684
Cerebellar involvement in metabolic disorders: a pattern-recognition approach. 61
9689620 1998
685
Non-progressive congenital ataxias. 61
9661964 1998
686
Transvaginal sonography of the fetal brain: detection of abnormal morphology and circulation. 61
9575270 1998
687
Congenital muscular dystrophies: 1997 update. 61
9545174 1998
688
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation. 61
9512164 1998
689
Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. 61
9566649 1998
690
Case report: cerebellar hemi-hypoplasia. 61
9516019 1998
691
Cerebellar hypoplasia, facial dysmorphism and internal abnormalities: a new recessive syndrome? 61
9546829 1998
692
Hypomelanosis of ITO. A study of 76 infantile cases. 61
9533559 1998
693
Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts. 61
9450854 1998
694
Diaphragmatic hernia in the Coffin-Siris syndrome. 61
9555587 1998
695
Unilateral somatic and intracranial hypoplasia. 61
9453035 1997
696
Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia. 61
9484687 1997
697
Ponto-cerebellar hypoplasia with dystonia: clinico-pathological findings in a sporadic case. 61
9454987 1997
698
The Cantrell-sequence: a result of maternal exposure to aminopropionitriles? 61
9394169 1997
699
Genetic disorders and cerebellar structural abnormalities in childhood. 61
9365367 1997
700
Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism. 61
9354849 1997
701
Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. 61
9339687 1997
702
Clinical and molecular analysis in Joubert syndrome. 61
9295076 1997
703
Fetal central nervous system anomalies: MR imaging augments sonographic diagnosis. 61
9280237 1997
704
Correlation of fetal frontal lobe and transcerebellar diameter measurements: the utility of a new prenatal sonographic technique. 61
9286016 1997
705
Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. 61
9311743 1997
706
Holoprosencephaly and cerebellar hypoplasia in a neonate with multiple congenital malformations. 61
9257477 1997
707
Development of cerebellar hypoplasia in jaundiced Gunn rats: a quantitative light microscopic analysis. 61
9144583 1997
708
Cerebellar hypoplasia and frontal lobe cognitive deficits in disorders of early childhood. 61
9153027 1997
709
Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome? 61
9212181 1997
710
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). 61
9140401 1997
711
Central nervous system and vertebral malformation resembling the Arnold-Chiari syndrome in a Simmental calf. 61
9167880 1997
712
Fetal transcerebellar diameter in Down syndrome. 61
9083308 1997
713
[Neuroimagings in neuronal migration disorders]. 61
9071189 1997
714
A case of early myoclonic encephalopathy with the congenital nephrotic syndrome. 61
9105663 1997
715
Teratogenicity of Aino virus in the chick embryo. 61
9243724 1997
716
Agenesis of cerebellum associated with arrhinencephaly. 61
9101111 1997
717
Extensive facial strawberry mark associated with cerebellar hypoplasia and vascular abnormalities. 61
9065707 1997
718
[A new form of hereditary ataxia: X-linked congenital cerebellar hypoplasia (a clinical and molecular genetic analysis)]. 61
9424342 1997
719
Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome. 61
8960322 1996
720
Hydranencephaly, cerebellar hypoplasia, and myopathy in chick embryos infected with aino virus. 61
8952026 1996
721
Neurologic anomalies of Perrault syndrome. 61
8923934 1996
722
Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome. 61
8870617 1996
723
Late intrauterine Cytomegalovirus infection: clinical and neuroimaging findings. 61
8916166 1996
724
Clinical features of developmental disability associated with cerebellar hypoplasia. 61
8916160 1996
725
Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study. 61
8971750 1996
726
Bipolar disorders, dystonia, and compulsion after dysfunction of the cerebellum, dentatorubrothalamic tract, and substantia nigra. 61
8894064 1996
727
Functional effects of methylazoxymethanol-induced cerebellar hypoplasia in rats. 61
8888017 1996
728
Cerebellar dysgenesis in infants and children: an experience of 22 cases. 61
8942027 1996
729
Cerebellar hypoplasia in respiratory chain dysfunction. 61
8892374 1996
730
Pregnancies, calves and calf viability after transfer of in vitro produced bovine embryos. 61
16727920 1996
731
[A case of Smith-Magenis syndrome]. 61
8753135 1996
732
X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. 61
8687195 1996
733
Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity. 61
8737647 1996
734
Molecular genetic characterization and comparative mapping of the human PCP4 gene. 61
8914602 1996
735
Dilated subarachnoid cisterna ambiens: a potential sonographic sign predicting cerebellar hypoplasia. 61
8731452 1996
736
Clinical, hematologic, and biochemical features of a syndrome in Bernese mountain dogs characterized by hepatocerebellar degeneration. 61
8635971 1996
737
Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome. 61
8703231 1996
738
Unilateral cerebellar aplasia. 61
8677027 1996
739
Proliferation and teratogenicity of Aino virus in chick embryos. 61
8871535 1996
740
Chiari complex in children--neuroradiological diagnosis, neurosurgical treatment and proposal of a new classification (312 cases). 61
8770577 1995
741
Magnetic resonance imaging for the ante mortem diagnosis of cerebellar hypoplasia in a Holstein calf. 61
8966975 1995
742
[Carbohydrate-deficient glycoprotein syndrome]. 61
8577056 1995
743
Disruption of cerebellar maturation by an antimitotic agent impairs the ontogeny of eyeblink conditioning in rats. 61
7472484 1995
744
Fryns syndrome survivors and neurologic outcome. 61
8599357 1995
745
Partial deletion of chromosome 6p: autopsy findings in a premature infant and review of the literature. 61
8705204 1995
746
[Cerebellar hypoplasia in the newborn: association with respiratory control disorders and mental retardation]. 61
8556588 1995
747
Fetal hypokinesia syndrome in the monochorionic pair of a triplet pregnancy secondary to severe disruptive cerebral injury. 61
7651789 1995
748
Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome. 61
7666974 1995
749
Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy. 61
7727543 1995
750
Brain lesions in calves following transplacental infection with bovine-virus diarrhoea virus. 61
7483906 1995
751
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. 61
7607282 1995
752
Cerebellar hypoplasia in the second trimester associated with microcephaly at birth. 61
7788497 1995
753
Pathogenesis of feline panleukopenia virus and canine parvovirus. 61
7663051 1995
754
Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration. 61
7719136 1995
755
Two unrelated children with developmental delay, short stature and anterior chamber cleavage disorder, cerebellar hypoplasia, endocrine disturbances and tracheostenosis: a new entity? 61
7537583 1995
756
Non-progressive familial congenital cerebellar hypoplasia. 61
7722536 1995
757
A congenital abnormality of calves, suggestive of a new type of arthropod-borne virus infection. 61
7884059 1994
758
Hypoplasia of the cerebellar vermis and cognitive deficits in survivors of childhood leukemia. 61
7945010 1994
759
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. 61
7944531 1994
760
Brain lesions of fetal onset in encephalopathic infants with nonimmune hydrops fetalis. 61
7986287 1994
761
Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome). 61
8092188 1994
762
[Agyria-pachygyria and pachygyria in children. Contribution of imaging]. 61
7994346 1994
763
A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia. 61
8033921 1994
764
Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. 61
8201322 1994
765
New insights into the pathogenesis of congenital myopathies. 61
8006374 1994
766
Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations. 61
8010273 1994
767
[Myopathy, cerebellar ataxia and Williams syndrome like features in siblings]. 61
8194269 1994
768
The brain in infantile autism: posterior fossa structures are abnormal. 61
8309561 1994
769
Cerebellar hypoplasia and hyperplasia in infantile autism. 61
7905084 1994
770
MRI in cerebellar hypoplasia. 61
8183459 1994
771
[Pathophysiology of carbohydrate-deficient glycoprotein syndrome--neuroradiological and neurophysiological study]. 61
8260207 1993
772
Cystic malformations of the posterior fossa: differential diagnosis clarified through embryologic analysis. 61
8031352 1993
773
Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. 61
8147499 1993
774
Mosaic r(13) in an infant with aprosencephaly. 61
8256818 1993
775
Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome? 61
8213924 1993
776
Congenital cataract in the right eye and primary clinical anophthalmos of the left eye in a patient with cerebellar hypoplasia. 61
8239329 1993
777
A new 3C syndrome: cerebellar hypoplasia, cavernous haemangioma and coarctation of the aorta. 61
9435781 1993
778
Autosomal recessive cerebellar hypoplasia. 61
8352862 1993
779
Granule cell type cerebellar hypoplasia in a beagle dog. 61
8501896 1993
780
Cerebellar hypoplasia in the hyperbilirubinemic Gunn rat: morphological aspects. 61
8247099 1993
781
Postmortem findings and prenatal diagnosis of Zellweger syndrome. Case report. 61
8507459 1993
782
A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. 61
7682675 1993
783
Early manifestations of the carbohydrate-deficient glycoprotein syndrome. 61
8419616 1993
784
Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome? 61
1481810 1992
785
Crossed cerebello-cerebral diaschisis: a SPECT study. 61
1470425 1992
786
[Holoprosencephaly accompanied with dysgenesis of the cerebellum]. 61
1407346 1992
787
Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? 61
1404302 1992
788
Marinesco-Sjögren syndrome with reduced cytochrome c oxidase in muscle. 61
1335096 1992
789
[Congenital oculomotor apraxia. Presentation--developmental problems--differential diagnosis]. 61
1614174 1992
790
Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome. 61
1622524 1992
791
Congenital oculomotor nerve palsy, cerebellar hypoplasia, and facial capillary hemangioma. 61
1575222 1992
792
Neurochemical and histological analysis of motor dysfunction observed in rats with methylnitrosourea-induced experimental cerebellar hypoplasia. 61
1377791 1992
793
Unilateral cerebellar hypoplasia. 61
1606782 1992
794
Lethal cytomegalovirus infection in preterm infants: clinical, radiological, and neuropathological findings. 61
1311911 1992
795
Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome. 61
1776639 1991
796
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus. 61
1785627 1991
797
Absence of magnetic resonance imaging evidence of pontine abnormality in infantile autism. 61
1953402 1991
798
[Incidence of fetal chromosomal aberration in prenatal cytogenetic examination]. 61
1955786 1991
799
An outbreak of fetal and neonatal losses associated with the diagnosis of bovine viral diarrhea virus. 61
16727029 1991
800
Ataxia, dysmetria, tremor. Cerebellar diseases. 61
1802262 1991
801
[Dandy-Walker complex with multiple anomalies: report of one case]. 61
2063687 1991
802
[Tracheal agenesis. A case report]. 61
2036152 1991
803
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. 61
2018058 1991
804
Diaplacental infections with ruminant pestiviruses. 61
9210928 1991
805
Cerebellar hypoplasia associated with Arnold-Chiari malformation in a Japanese shorthorn calf. 61
2019668 1991
806
The transverse cerebellar diameter in the second trimester is unaffected by Down syndrome. 61
1824739 1991
807
Magnetic resonance imaging of the brain in congenital rubella virus and cytomegalovirus infections. 61
1652704 1991
808
Hereditary cerebellar hypoplasia. 61
2002208 1991
809
Meckel-Gruber syndrome. Importance of prenatal diagnosis. 61
2277397 1990
810
Bovine viral diarrhea virus-induced cerebellar disease in a calf. 61
2276963 1990
811
A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. 61
2230839 1990
812
CHARGE and Joubert syndromes: are they a single disorder? 61
1981467 1990
813
Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism. 61
2243234 1990
814
An outbreak of congenital hydranencephaly and cerebellar hypoplasia among calves in South Kyushu, Japan: a pathological study. 61
2236906 1990
815
Hydranencephaly-cerebellar hypoplasia in a newborn calf after infection of its dam with Chuzan virus. 61
2167994 1990
816
[An animal model for underdevelopment of the CNS--bilirubin-induced cerebellar hypoplasia]. 61
2356329 1990
817
Acrocallosal syndrome. 61
2309796 1990
818
Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease). 61
2315227 1990
819
Aprosencephaly: review of the literature and report of a case with cerebellar hypoplasia, pigmented epithelial cyst and Rathke's cleft cyst. 61
2339594 1990
820
CT and MR diagnosis of cerebellar hypoplasia. 61
2621203 1989
821
[Clinical spectrum and congenital anomalies in trisomy 18]. 61
2584807 1989
822
Moebius' syndrome with unilateral cerebellar hypoplasia. 61
2810343 1989
823
Autosomal recessive cerebellar hypoplasia. 61
2768782 1989
824
Lissencephaly and pachygyria. 61
2736411 1989
825
Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. 61
2786166 1989
826
Severity of cerebellar hypoplasia is predictable from total plasma bilirubin level at 3 to 7 days of age in jaundiced Gunn rats. 61
2709808 1989
827
Critical period of bilirubin-induced cerebellar hypoplasia in a new Sprague-Dawley strain of jaundiced Gunn rats. 61
2710423 1989
828
Positron emission tomography of the cerebellum in autism. 61
2783541 1989
829
Etiologic heterogeneity in dyskeratosis congenita. 61
2705484 1989
830
Ovine arthrogryposis and central nervous system malformations associated with in utero Cache Valley virus infection: spontaneous disease. 61
2492399 1989
831
Keratitis, ichthyosis, and deafness (KID) syndrome with cerebellar hypoplasia. 61
3235255 1988
832
Serologic evidence for the etiologic role of Chuzan virus in an epizootic of congenital abnormalities with hydranencephaly-cerebellar hypoplasia syndrome of calves in Japan. 61
3239837 1988
833
Cerebellar hypoplasia and autism. 61
3173446 1988
834
A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. 61
3201986 1988
835
Pharmacological and biological effects of tin-protoporphyrin on neonatal hyperbilirubinemic Gunn rats. 61
3186333 1988
836
Epidemiological survey of an epidemic of congenital abnormalities with hydranencephaly-cerebellar hypoplasia syndrome of calves occurring in 1985/86 and seroepidemiological investigations on Chuzan virus, a putative causal agent of the disease, in Japan. 61
2838675 1988
837
Comparative study of glial marker proteins in the hypoplastic cerebellum of jaundiced Gunn rats. 61
3339348 1988
838
[Cerebellar hypoplasia and hydranencephaly in cattle after transplacental bovine diarrhea virus infection]. 61
3322778 1987
839
Congenital granuloprival hypoplasia of cerebellar and hippocampal cortex. 61
3655208 1987
840
[Autopsy of a patient with cerebellar hypoplasia]. 61
3663412 1987
841
Sex-linked recessive congenital ataxia. 61
3668574 1987
842
Evidence for a multiple innervation of cerebellar Purkinje cells by climbing fibers in adult ferrets infected at birth by a mink enteritis virus. 61
3040186 1987
843
Different behaviors among lysosomal enzymes in the cerebellum of jaundiced Gunn rats with cerebellar hypoplasia. 61
3033152 1987
844
Arhinencephaly. The spectrum of associated malformations. 61
3801853 1987
845
The pathogenesis of rat virus infection in infant and juvenile rats after oronasal inoculation. 61
3038056 1987
846
The critical period of Purkinje cell degeneration and cerebellar hypoplasia due to bilirubin. 61
3434214 1987
847
Serotonin metabolism in the CNS in cerebellar ataxic mice. 61
2430828 1986
848
Trichlorfon-induced congenital cerebellar hypoplasia in neonatal pigs. 61
3771339 1986
849
Neocerebellar hypoplasia with systemic combined olivo-ponto-dentatal degeneration in a 9-day-old baby: contribution to the problem of relations between malformation and systemic degeneration in early life. 61
3466729 1986
850
[Congenital cerebellar hypoplasia with bone lesions]. 61
3729252 1986
851
Alterations in the noradrenergic projection to the cerebellum of the dystonic (dt) rat. 61
3008916 1986
852
Cerebral dysgeneses and their influence on fetal muscle development. 61
3541664 1986
853
Congenital ocular motor apraxia. 61
2432703 1986
854
Neu-Laxova syndrome: report of two cases. 61
3786261 1986
855
Necrosis of the fetal brain stem with cerebellar hypoplasia. 61
3754374 1986
856
Enlarged fetal cisterna magna: appearance and significance. 61
3895082 1985
857
Agenesis of the corpus callosum and macrocephaly in siblings. 61
3905089 1985
858
Cerebellar hypoplasia in the Gunn rat is associated with quantitative changes in neurotypic and gliotypic proteins. 61
2410596 1985
859
Partial trisomy 5q and partial monosomy 5q within the same family. 61
4042393 1985
860
Studies on a cerebellar 50,000-dalton protein associated with cerebellar hypoplasia in jaundiced Gunn rats: its identity with glial fibrillary acidic protein as evidenced by the improved immunoblotting method. 61
3989566 1985
861
[Does the brain influence the muscular development of the human fetus? Evidence in 21 cases]. 61
4016591 1985
862
Autosomal recessive congenital cerebellar hypoplasia. 61
3995786 1985
863
Neuropathological and Golgi study on a case of thanatophotoric dysplasia. 61
3832954 1985
864
Mode of prevention by phototherapy of cerebellar hypoplasia in a new Sprague-Dawley strain of jaundiced Gunn rats. 61
3843257 1985
865
A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. 61
6507477 1984
866
[Ultrasonographic evaluation of infratentorial lesions, with special reference to cerebellar hypoplasia]. 61
6388597 1984
867
Cerebral calcifications and cerebellar hypoplasia in two children: clinical, radiologic and neuropathological studies--a separate neurodevelopmental entity. 61
6738816 1984
868
Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy. 61
6475488 1984
869
Rates of protein synthesis and degradation in Gunn rat cerebellum with bilirubin-induced cerebellar hypoplasia. 61
6536880 1984
870
Interhemispheral neuroepithelial (glio-ependymal) cysts, associated with agenesis of the corpus callosum and neocortical maldevelopment. A case study. 61
6499568 1984
871
Unilateral cerebellar hypoplasia. 61
6630638 1983
872
Accumulation of cholesteryl esters associated with cerebellar hypoplasia in jaundiced Gunn rats. 61
6617810 1983
873
Two proteins associated with cerebellar hypoplasia in jaundiced Gunn rats. 61
6621772 1983
874
Pathology in the ovine foetus caused by an ovine pestivirus. 61
6311154 1983
875
Intrauterine multisystem atrophy in siblings: a new genetic syndrome? 61
6624387 1983
876
Cerebellar hypoplasia, communicating hydrocephalus and mental retardation in two brothers and a maternal uncle. 61
6846731 1983
877
Cerebellar hypoplasia in Gunn rats: effects of bilirubin on the maturation of glutamate decarboxylase, Na,K-ATPase, 2',3'-cyclic nucleotide 3'-phosphohydrolase, acetylcholine and aryl esterase, succinate and lactate dehydrogenase, and arylsulfatase activities. 61
6288860 1982
878
Neurochemical studies on the cerebellar hypoplasia of Gunn rat (hereditary hyperbilirubinemic rat). 61
6288859 1982
879
Cerebellar hypoplasia in beef shorthorn calves. 61
7159314 1982
880
Facial hemangioma with cerebrovascular anomalies and cerebellar hypoplasia. 61
7137514 1982
881
Congenital tremor in pigs farrowed from sows given hog cholera virus during pregnancy. 61
7224307 1981
882
[Congenital tremor and cerebellar hypoplasia in piglets following treatment of sows with Neguvon during pregnancy]. 61
7221536 1981
883
Cerebellar hypoplasia in the Gunn rat with hereditary hyperbilirubinemia: immunohistochemical and neurochemical studies. 61
6255097 1980
884
Characteristic changes of cerebellar proteins associated with cerebellar hypoplasia in jaundiced Gunn rats and the prevention of these by phototherapy. 61
7418786 1980
885
[Brain teratology as a result of transplacental virus infection in ruminants]. 61
6267276 1980
886
Human cerebellar hypoplasia: a syndrome of diverse causes. 61
7387451 1980
887
Oculocerebral malformations. A reappraisal of Walker's 'lissencephaly'. 61
6766714 1980
888
[Development of behavioral function of cerebellar hypoplasia rats as induced by cytosine arabinoside (ara-C) (author's transl)]. 61
6155317 1980
889
Wesselsbron disease: a cause of congenital porencephaly and cerebellar hypoplasia in calves. 61
551364 1979
890
Congenital cerebellar hypoplasia in newborn calves. 61
550073 1979
891
Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome). 61
758643 1979
892
Congenital ataxia and tremor with cerebellar hypoplasia in piglets borne by sows treated with Neguvon vet. (metrifonate, trichlorfon) during pregnancy. 61
733482 1978
893
Congenital tremor in pigs in Sweden. A case report. 61
733481 1978
894
Congenital hydranencephaly and cerebellar hypoplasia in calves. 61
721674 1978
895
A case of partial cerebellar hypoplasia in a cat. 61
662593 1978
896
California goats with a disease resembling enzootic ataxia or swayback. 61
566481 1978
897
Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. 61
740218 1978
898
Impairment of DNA synthesis in Gunn rat cerebellum. 61
861721 1977
899
Fine structure of the cerebellum of "staggerer-reeler", a double mutant of mice affected by staggerer and reeler conditions. I. The premature disappearance of the external granular layer and ensuing cerebellar disorganization. 61
870618 1977
900
Congenital cerebellar hypoplasia in jersey calves. 61
194564 1977
901
Cerebellar hypoplasia and motor development in congenitally jaundiced Gunn rats. 61
577310 1977
902
The pathogenesis of parvovirus-induced cerebellar hypoplasia in the Syrian hamster, Mesocricetus auratus. Fluorescent antibody, foliation, cytoarchitectonic, Golgi and electron microscopic studies. 61
789416 1976
903
Developmental features of cerebellar hypoplasia and brain bilirubin levels in a mutant (Gunn) rat with hereditary hyperbilirubinaemia. 61
966000 1976
904
Cerebellar hypoplasia in an infant with congenital cytomegalovirus infection. 61
174055 1976
905
Pathogenesis of cerebellar hypoplasia produced by lymphocytic choriomeningitis virus infection of neonatal rats. II. An ultrastructural study of the immune-mediated pathology. 61
1104999 1975
906
[Cerebellar hypoplasia. Report of 3 cases in a family]. 61
1205083 1975
907
Cerebellar hypoplasia of genetic origin in calves. 61
1200928 1975
908
Cytarabine and its effect on cerebellum of suckling mouse. 61
1156213 1975
909
Congenital defects of the nervous system of lambs. 61
1103813 1975
910
Cerebellar hypoplasia in Werdnig-Hoffmann disease. 61
1158057 1975
911
Cerebellar hypoplasia of unknown etiology in pigs. 61
1146159 1975
912
Taratogenic effects of the pyrimidine analogues 5-iododeoxyuridine and cytosine arabinoside in late fetal mice and rats. 61
806125 1975
913
Postnantal cerebellar hypoplasia and dysfunction following methylazoxymethanol acetate treatment (38495). 61
1129253 1975
914
Pathogenesis of cerebellar hypoplasia produced by lymphocytic choriomeningitis virus infection of neonatal rats: protective effect of immunosuppression with anti-lymphoid serum. 61
4609903 1974
915
Cerebellar hypoplasia and degeneration in part-Arab horses. 61
4819469 1974
916
Cerebellar hypoplasia and degeneration in the young Arab horse: clinical and neuropathological features. 61
4748678 1973
917
Micrognathia and cerebellar hypoplasia in an Aberdeen Angus herd. 61
4736395 1973
918