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Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.
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61
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Turkmen S...Mundlos S
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18364738 |
2008 |
| 2 |
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.
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54
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Bedeschi MF...Lalatta F
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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
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Moheb LA...Kuss AW
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18043714 |
2008 |
| 4 |
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.
54
61
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Vermeer S...Lefeber DJ
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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
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Khelfaoui M...Billuart P
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17728457 |
2007 |
| 6 |
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
54
61
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Uyanik G...Winkler J
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17664403 |
2007 |
| 7 |
The role of RELN in lissencephaly and neuropsychiatric disease.
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61
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Chang BS...Walsh CA
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16958033 |
2007 |
| 8 |
Genetic malformations of cortical development.
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54
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Guerrini R...Marini C
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16724181 |
2006 |
| 9 |
Pathogenesis of migration disorders.
54
61
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Gressens P
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16538086 |
2006 |
| 10 |
[Monogenic causes of X-linked mental retardation].
54
61
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Guillen-Navarro E...Glover-Lopez G
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16506132 |
2006 |
| 11 |
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.
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54
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Zanni G...Chelly J
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16221952 |
2005 |
| 12 |
Neuronal migration disorders, genetics, and epileptogenesis.
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54
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Guerrini R...Filippi T
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15921228 |
2005 |
| 13 |
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
54
61
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Bergmann C...Ramaekers VT
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12805098 |
2003 |
| 14 |
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
54
61
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Philip N...Villard L
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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
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Sarnat HB...Cheyette SR
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11815869 |
2002 |
| 16 |
Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria.
54
61
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Eriksson SH...Sisodiya SM
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11408330 |
2001 |
| 17 |
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
54
61
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Hong SE...Walsh CA
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10973257 |
2000 |
| 18 |
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
54
61
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Knight SW...Dokal I
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10583221 |
1999 |
| 19 |
Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways.
61
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Patel PA...Mukherjee K
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32305418 |
2020 |
| 20 |
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.
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Rodriguez-Garcia ME...Martinez-Azorin F
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32198973 |
2020 |
| 21 |
Prediction of Neurodevelopmental Impairment in Congenital Cytomegalovirus Infection by Early Postnatal Magnetic Resonance Imaging.
61
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Nishida K...Morioka I
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32492677 |
2020 |
| 22 |
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
61
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Blackburn PR...Lanpher BC
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32519519 |
2020 |
| 23 |
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
61
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Slavotinek A...Corbett AH
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32504085 |
2020 |
| 24 |
Cerebellar hypoplasia and dysplasia in a juvenile raccoon with parvoviral infection.
61
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Wunschmann A...Parrish CR
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32404029 |
2020 |
| 25 |
Neuropathogenicity of newly isolated avian leukosis viruses from chickens with osteopetrosis and mesenchymal neoplasms.
61
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Nishiura H...Ochiai K
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32301629 |
2020 |
| 26 |
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.
61
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Wilton KM...Schimmenti LA
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32162493 |
2020 |
| 27 |
Loss of CPAP in developing mouse brain and its functional implication in human primary microcephaly.
61
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Lin YN...Tang TK
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32501282 |
2020 |
| 28 |
CD8+ T-cell senescence and skewed lymphocyte subsets in young Dyskeratosis Congenita patients with PARN and DKC1 mutations.
61
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Zeng T...Zhao X
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32452087 |
2020 |
| 29 |
Expanding the spectrum of CEP55-associated disease to viable phenotypes.
61
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Barrie ES...Gastier-Foster JM
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32100459 |
2020 |
| 30 |
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene.
61
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Gafner M...Lev D
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31689548 |
2020 |
| 31 |
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.
61
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Trimouille A...Laquerriere A
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32293553 |
2020 |
| 32 |
The Neuropathology of MIRAGE Syndrome.
61
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Viaene AN...Harding BN
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32106287 |
2020 |
| 33 |
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
61
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Saugier-Veber P...Laquerriere A
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31770597 |
2020 |
| 34 |
[Two cases with lissencephaly associated cerebellar hypoplasia related to RELN variation].
61
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Gao SS...Kong XD
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32135599 |
2020 |
| 35 |
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.
61
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Richmond CM...Delatycki MB
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31693170 |
2020 |
| 36 |
Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system.
61
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Santiago-Colon A...National Birth Defects Prevention Study
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31944002 |
2020 |
| 37 |
Luckenschadel Associated with Chiari Type II Malformation: An Autopsy Case Report.
61
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Darouich S
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32096430 |
2020 |
| 38 |
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
61
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Wortmann SB...Rahman S
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32004446 |
2020 |
| 39 |
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
61
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Arslan EA...Topaloglu H
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31493945 |
2020 |
| 40 |
Expanded PCH1D phenotype linked to EXOSC9 mutation.
61
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Bizzari S...Bastaki F
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30690203 |
2020 |
| 41 |
CNS manifestations in patients with telomere biology disorders.
61
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Bhala S...Savage SA
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31872047 |
2019 |
| 42 |
Zika virus infection: A correlation between prenatal ultrasonographic and postmortem neuropathologic changes.
61
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Gutierrez Sanchez LA...Becerra Mojica CH
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31710135 |
2019 |
| 43 |
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
61
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Peralta S...Martin MA
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31727539 |
2019 |
| 44 |
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies.
61
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Pertl B...Verheyen S
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31794996 |
2019 |
| 45 |
The Reeler Mouse: A Translational Model of Human Neurological Conditions, or Simply a Good Tool for Better Understanding Neurodevelopment?
61
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Lossi L...Merighi A
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31805691 |
2019 |
| 46 |
Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome.
61
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Wright JN...Perez F
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31649160 |
2019 |
| 47 |
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity.
61
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Chatur C...Murthy MG
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31352912 |
2019 |
| 48 |
Quantitative diagnostic advantages of three-dimensional ultrasound volume imaging for fetal posterior fossa anomalies: Preliminary establishment of a prediction model.
61
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Sun L...Wu Q
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31441071 |
2019 |
| 49 |
Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation.
61
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Yanagi K...Kawahara A
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31365163 |
2019 |
| 50 |
GSK-3 modulates SHH-driven proliferation in postnatal cerebellar neurogenesis and medulloblastoma.
61
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Ocasio JK...Gershon TR
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31540917 |
2019 |
| 51 |
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
61
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Magini P...Mancini GMS
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31495489 |
2019 |
| 52 |
Unilateral Cerebellar Hypoplasia: A Rare Cause of Childhood Seizures.
61
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Shaikh M...Panda S
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31908668 |
2019 |
| 53 |
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
61
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Kanca O...Malicdan MCV
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31491411 |
2019 |
| 54 |
Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report.
61
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Kaymak D...Madazli R
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31553256 |
2019 |
| 55 |
Redefining the Etiologic Landscape of Cerebellar Malformations.
61
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Aldinger KA...Dobyns WB
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31474318 |
2019 |
| 56 |
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
61
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Kanca O...Malicdan MCV
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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
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He M...Wu L
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30932268 |
2019 |
| 58 |
Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation.
61
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Chen RL...Chen LY
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31269755 |
2019 |
| 59 |
Association Between Neonatal Neuroimaging and Clinical Outcomes in Zika-Exposed Infants From Rio de Janeiro, Brazil.
61
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Pool KL...Pone M
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31365112 |
2019 |
| 60 |
Lymphoplasmacytic Meningoencephalitis and Neuronal Necrosis Associated With Parvoviral Infection in Cats.
61
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Kokosinska A...Rissi DR
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30917745 |
2019 |
| 61 |
Huppke-Brendel Syndrome
61
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Bindu PS...Taly A
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31194315 |
2019 |
| 62 |
Deletion of the α subunit of the heterotrimeric Go protein impairs cerebellar cortical development in mice.
61
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Cha HL...Suh-Kim H
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31221179 |
2019 |
| 63 |
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
61
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Rad A...Schmidts M
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30487245 |
2019 |
| 64 |
WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts.
61
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Kantaputra PN...Dejkhamron P
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30692598 |
2019 |
| 65 |
Lissencephaly, cerebellar hypoplasia, and extrahepatic biliary atresia: An unusual association.
61
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Del Castillo Velilla I...Garcia Cabezas MA
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31047729 |
2019 |
| 66 |
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5.
61
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Abdelhamed ZA...Johnson CA
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30931988 |
2019 |
| 67 |
Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis.
61
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Haratz KK...Gindes L
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29484745 |
2019 |
| 68 |
Developmental outcomes in children with congenital cerebellar malformations.
61
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Pinchefsky EF...Srour M
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30320441 |
2019 |
| 69 |
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.
61
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Van-Gils J...Fergelot P
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30633342 |
2019 |
| 70 |
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.
61
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LaConte LEW...Mukherjee K
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30549415 |
2019 |
| 71 |
Prediction of the Outcome of Cochlear Implantation in the Patients with Congenital Cytomegalovirus Infection based on Magnetic Resonance Imaging Characteristics.
61
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Han JJ...Choi BY
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30682778 |
2019 |
| 72 |
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation.
61
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Iida A...Goto YI
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30534410 |
2019 |
| 73 |
GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.
61
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Hosseini M...Kahrizi K
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30549416 |
2019 |
| 74 |
Cerebellar hypoplasia of prematurity: Causes and consequences.
61
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Gano D...Barkovich AJ
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31324311 |
2019 |
| 75 |
Schmallenberg virus affects T-bet, Gata3, RoRrγt, Foxp3 and Eomes in mice brain.
61
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Aksoy E...Azkur AK
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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
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Chinello M...Cesaro S
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30863741 |
2019 |
| 77 |
Tubulinopathies.
61
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Goncalves FG...Arrigoni F
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30516692 |
2018 |
| 78 |
Tubulin genes and malformations of cortical development.
61
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Romaniello R...Cushion TD
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30016746 |
2018 |
| 79 |
Decreased Wave V Amplitude in Auditory Brainstem Responses of Children with Cerebellar Lesions.
61
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Matsuura Y...Hirooka Y
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30636918 |
2018 |
| 80 |
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
61
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Tripathy R...Keays DA
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30449657 |
2018 |
| 81 |
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.
61
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Accogli A...Capra V
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30238602 |
2018 |
| 82 |
[Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case].
61
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Otero-Dominguez E...Eiris-Punal J
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30350845 |
2018 |
| 83 |
The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome.
61
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Leibovitz Z...Lerman-Sagie T
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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
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30537274 |
2018 |
| 85 |
Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study.
61
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Howley MM...National Birth Defects Prevention Study
|
30230717 |
2018 |
| 86 |
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.
61
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Sato T...Moriuchi H
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29907476 |
2018 |
| 87 |
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).
61
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Khan AO
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30019980 |
2018 |
| 88 |
Bergmann glial Sonic hedgehog signaling activity is required for proper cerebellar cortical expansion and architecture.
61
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Cheng FY...Chiang C
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29792854 |
2018 |
| 89 |
Antenatal Diagnosis of Fetal Retinoid Syndrome at 20 Weeks of Gestation: A Case Report.
61
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Erenel H...Madazli R
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29843537 |
2018 |
| 90 |
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.
61
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Demirbilek H...Kurtoglu S
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29521454 |
2018 |
| 91 |
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
61
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Moortgat S...Maystadt I
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29510240 |
2018 |
| 92 |
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.
61
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Breuss MW...Gleeson JG
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30032983 |
2018 |
| 93 |
Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region.
61
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Puvabanditsin S...Mehta R
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29988670 |
2018 |
| 94 |
SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment.
61
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Swan L...Coman D
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30275942 |
2018 |
| 95 |
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.
61
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Severino M...Bruno C
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29666984 |
2018 |
| 96 |
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
61
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Paganini L...Miozzo MR
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29663667 |
2018 |
| 97 |
Utility of fetal anteroposterior to transverse cerebellar diameter ratio to exclude cerebellar hypoplasia in trisomy 18.
61
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Takano M...Morita M
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29517144 |
2018 |
| 98 |
METTL3-mediated m6A modification is required for cerebellar development.
61
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Wang CX...Zhou Q
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29879109 |
2018 |
| 99 |
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation.
61
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Bamborschke D...Cirak S
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29501407 |
2018 |
| 100 |
Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population.
61
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Anand G...Halliday D
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29535107 |
2018 |
| 101 |
Sonic Hedgehog Agonist Protects Against Complex Neonatal Cerebellar Injury.
61
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Nguyen V...Rowitch DH
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29134361 |
2018 |
| 102 |
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.
61
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Merk DJ...Schuller U
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29551561 |
2018 |
| 103 |
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
61
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LaConte LEW...Mukherjee K
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29426960 |
2018 |
| 104 |
Neuronal Vacuolization in Feline Panleukopenia Virus Infection.
61
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Pfankuche VM...Puff C
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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
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Chimelli L...da Silva Pone MV
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29346650 |
2018 |
| 106 |
Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome.
61
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Eguchi M...Eguchi-Ishimae M
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29265763 |
2018 |
| 107 |
Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.
61
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Ebrahimi-Fakhari D
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29112993 |
2018 |
| 108 |
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
61
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Mendoza-Ferreira N...Wirth B
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29379881 |
2018 |
| 109 |
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
61
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Gueneau L...Reymond A
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29290337 |
2018 |
| 110 |
Nonprogressive congenital ataxias.
61
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Bertini E...Boltshauser E
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29891079 |
2018 |
| 111 |
Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome.
61
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Hakim N...Hakim J
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29386918 |
2018 |
| 112 |
Colonic Angioectasia in an Adolescent Boy with Hoyeraal-Hreidarsson on Long-Term Anabolic Steroid Therapy.
61
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Khalaf R...Cuffari C
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29383307 |
2018 |
| 113 |
Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.
61
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Weihbrecht K...Seo S
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29444170 |
2018 |
| 114 |
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
61
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Steiner JE...Siegel DH
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29171184 |
2018 |
| 115 |
Congenital Zika virus infection: a neuropathological review.
61
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Chimelli L...Avvad-Portari E
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29167994 |
2018 |
| 116 |
Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia.
61
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Zou Z...Luo Y
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29171036 |
2018 |
| 117 |
A rare case of fetal extensive intracranial hemorrhage and whole-cerebral hypoplasia due to latent maternal vitamin K deficiency.
61
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Goto T...Yamada Y
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29843264 |
2018 |
| 118 |
A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation.
61
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DeLuca SC...Mukherjee K
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29258560 |
2017 |
| 119 |
Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.
61
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Whittaker DE...Basson MA
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29168327 |
2017 |
| 120 |
Systemic inflammation combined with neonatal cerebellar haemorrhage aggravates long-term structural and functional outcomes in a mouse model.
61
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Tremblay S...Goldowitz D
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28755859 |
2017 |
| 121 |
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.
61
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Avagliano L...Massa V
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29162129 |
2017 |
| 122 |
Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.
61
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Lei T...Lin MF
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28940600 |
2017 |
| 123 |
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
61
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Bettencourt C...Xiromerisiou G
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29096665 |
2017 |
| 124 |
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
61
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Nabhan MM...Soliman NA
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28815891 |
2017 |
| 125 |
Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins.
61
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Olivieri C...Guala A
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29081935 |
2017 |
| 126 |
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
61
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Zhao JJ...Feuk L
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28581210 |
2017 |
| 127 |
A Retrospective Study of Cytogenetic Results From Amniotic Fluid in 5328 Fetuses With Abnormal Obstetric Sonographic Findings.
61
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Zhang S...Sun X
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28523762 |
2017 |
| 128 |
Dandy-Walker Malformation Presenting with Affective Symptoms.
61
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Batmaz M...Ozen S
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29033643 |
2017 |
| 129 |
Molecular detection and genetic analysis of Akabane virus genogroup Ib in small ruminants in Turkey.
61
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Sevik M
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28478578 |
2017 |
| 130 |
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.
61
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Ghoumid J...Manouvrier-Hanu S
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28589944 |
2017 |
| 131 |
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.
61
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Seto T...Yamamoto T
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28944139 |
2017 |
| 132 |
Valnoctamide Inhibits Cytomegalovirus Infection in Developing Brain and Attenuates Neurobehavioral Dysfunctions and Brain Abnormalities.
61
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Ornaghi S...van den Pol AN
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28630251 |
2017 |
| 133 |
Enlarged posterior fossa on prenatal imaging: differential diagnosis, associated anomalies and postnatal outcome.
61
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Parvovirus-associated cerebellar hypoplasia and hydrocephalus in day old broiler chickens.
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Comparing noninvasive dense array and intracranial electroencephalography for localization of seizures.
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Persistent adeno-associated virus 2 and parvovirus B19 sequences in post-mortem human cerebellum.
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Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies.
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Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
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Nephronophthisis: disease mechanisms of a ciliopathy.
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Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
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Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia.
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Ethanol impaired neuronal migration is associated with reduced aspartyl-asparaginyl-beta-hydroxylase expression.
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Comparison between ultrasound and magnetic resonance imaging in assessment of fetal cytomegalovirus infection.
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Cerebellar vermian hypoplasia in a Cocker Spaniel.
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Trisomy 18 syndrome with incomplete Cantrell syndrome.
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Differential diagnosis of cerebellar atrophy in childhood.
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Inherited 18q23 duplication in a fetus with multiple congenital anomalies.
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Cerebellar hypoplasia in a clinically suspected but unconfirmed case of BSE in a cow.
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"Unertan syndrome" in two Turkish families in relation to devolution and emergence of Homo erectus: neurological examination, MRI, and PET scans.
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Concurrent peste des petits ruminants virus and pestivirus infection in stillborn twin lambs.
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Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.
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X-linked congenital ataxia: a new locus maps to Xq25-q27.1.
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The role of thioredoxin reductases in brain development.
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Deletion of the OPHN1 gene detected by aCGH.
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What does magnetic resonance imaging add to the prenatal sonographic diagnosis of ventriculomegaly?
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The neuroradiological findings in a case of Revesz syndrome.
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Naturally occurring parvovirus-associated feline hypogranular cerebellar hypoplasia-- A comparison to experimentally-induced lesions using immunohistology.
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A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters.
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Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool.
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Severe cerebellar hypoplasia associated with osteogenesis imperfecta type III.
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Insulin and insulin-like growth factor resistance with neurodegeneration in an adult chronic ethanol exposure model.
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Cerebellar cortical degeneration with selective granule cell loss in Bavarian mountain dogs.
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Pediatric periodic alternating gaze deviation with midline cerebellar disease.
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Adams-Oliver syndrome: further evidence of an autosomal recessive variant.
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Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.
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Down syndrome gene dosage imbalance on cerebellum development.
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Chronic ethanol exposure causes mitochondrial dysfunction and oxidative stress in immature central nervous system neurons.
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[Genetic and clinical aspects of lissencephaly].
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Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
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Citrinin and endosulfan induced teratogenic effects in Wistar rats.
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Minocycline blocks acute bilirubin-induced neurological dysfunction in jaundiced Gunn rats.
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The cerebellum in cognitive processes: supporting studies in children.
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Language and social communication in children with cerebellar dysgenesis.
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Isolated unilateral cerebellar hypoplasia. A case report.
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Cerebellar hypoplasia in three sibling cats after intrauterine or early postnatal parvovirus infection.
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Spinocerebellar Ataxia Type 13
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Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
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Damage to the human cerebellum from prenatal alcohol exposure: the anatomy of a simple biometrical explanation.
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Chronic gestational exposure to ethanol causes insulin and IGF resistance and impairs acetylcholine homeostasis in the brain.
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Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia.
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A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
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Cerebellar involvement in midline facial defects with ocular hypertelorism.
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Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.
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[Cerebellar ataxia of Norman-Jaeken. Presentation of seven Spanish patients].
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Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004.
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Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p.
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Cerebellar hypoplasia associated with an avian leukosis virus inducing fowl glioma.
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Brainstem and cerebellar hypoplasia associated with osteogenesis imperfecta type-5.
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Cerebellar ataxia with progressive improvement.
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Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).
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Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency.
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Biometry of face and brain in fetuses with trisomy 21.
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Neurodevelopmental implications of ocular motor apraxia.
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POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
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Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20.
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Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.
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Autosomal recessive cerebellar hypoplasia in the Hutterite population.
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Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.
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Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects.
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PMM2-CDG (CDG-Ia)
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Pontomedullary disconnection: fetal and neonatal considerations.
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Minocycline blocks bilirubin neurotoxicity and prevents hyperbilirubinemia-induced cerebellar hypoplasia in the Gunn rat.
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Prenatal diagnosis of chromosome 4 mosaicism: prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization.
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Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity.
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Mitochondrial dysfunction in a patient with Joubert syndrome.
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Walker-Warburg syndrome: diffusion MR imaging.
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Fetal hydrocephalus, intrauterine diagnosis and therapy considerations: an experimental rat model.
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Ethanol inhibits insulin expression and actions in the developing brain.
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Clinicopathological features of globoid cell leucodystrophy in cats.
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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.
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Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up.
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Marinesco-Sjögren syndrome in a male with mild dysmorphism.
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Severe lethal spinal muscular atrophy variant with arthrogryposis.
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Non-progressive congenital ataxia with cerebellar hypoplasia in three families.
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Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia.
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Prenatal diagnosis of Juberg-Hayward syndrome.
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Midbrain disconnection: an aetiology of severe central neonatal hypotonia.
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Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?
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Severe abnormalities of the pons in two infants with goldenhar syndrome.
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A case of cerebellar hypoplasia in a Chinese infant with osteogenesis imperfecta.
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DNA testing in patients with GH deficiency at the time of transition.
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Pathology of the umbilical cord in adrenal fusion syndrome.
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Documentation of anomalies not previously described in Fryns syndrome.
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Provisionally unique autosomal recessive syndrome due to significant consanguinity.
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Mouse models for the Wolf-Hirschhorn deletion syndrome.
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Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification.
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Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.
61
|
Battisti C...Federico A
|
9450854 |
1998 |
| 694 |
Diaphragmatic hernia in the Coffin-Siris syndrome.
61
|
Delvaux V...Fryns JP
|
9555587 |
1998 |
| 695 |
Unilateral somatic and intracranial hypoplasia.
61
|
Pascual-Castroviejo I...Martinez V
|
9453035 |
1997 |
| 696 |
Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia.
61
|
Worthington S...Fagan E
|
9484687 |
1997 |
| 697 |
Ponto-cerebellar hypoplasia with dystonia: clinico-pathological findings in a sporadic case.
61
|
Simonati A...Rizzuto N
|
9454987 |
1997 |
| 698 |
The Cantrell-sequence: a result of maternal exposure to aminopropionitriles?
61
|
Dembinski J...Schroder W
|
9394169 |
1997 |
| 699 |
Genetic disorders and cerebellar structural abnormalities in childhood.
61
|
Ramaekers VT...Jaeken J
|
9365367 |
1997 |
| 700 |
Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism.
61
|
Mauceri L...Sorge G
|
9354849 |
1997 |
| 701 |
Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.
61
|
Dobyns WB...Truwit CL
|
9339687 |
1997 |
| 702 |
Clinical and molecular analysis in Joubert syndrome.
61
|
Pellegrino JE...Chance PF
|
9295076 |
1997 |
| 703 |
Fetal central nervous system anomalies: MR imaging augments sonographic diagnosis.
61
|
Levine D...Edelman RR
|
9280237 |
1997 |
| 704 |
Correlation of fetal frontal lobe and transcerebellar diameter measurements: the utility of a new prenatal sonographic technique.
61
|
Persutte WH...Hobbins JC
|
9286016 |
1997 |
| 705 |
Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
61
|
Fink JM...Hirsch BA
|
9311743 |
1997 |
| 706 |
Holoprosencephaly and cerebellar hypoplasia in a neonate with multiple congenital malformations.
61
|
de Silva MV...Silva TR
|
9257477 |
1997 |
| 707 |
Development of cerebellar hypoplasia in jaundiced Gunn rats: a quantitative light microscopic analysis.
61
|
Conlee JW...Shapiro SM
|
9144583 |
1997 |
| 708 |
Cerebellar hypoplasia and frontal lobe cognitive deficits in disorders of early childhood.
61
|
Ciesielski KT...Pabst HF
|
9153027 |
1997 |
| 709 |
Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?
61
|
Farah S...Farag TI
|
9212181 |
1997 |
| 710 |
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
61
|
Matthijs G...Van Schaftingen E
|
9140401 |
1997 |
| 711 |
Central nervous system and vertebral malformation resembling the Arnold-Chiari syndrome in a Simmental calf.
61
|
LeClerc S...Illanes O
|
9167880 |
1997 |
| 712 |
Fetal transcerebellar diameter in Down syndrome.
61
|
Rotmensch S...Copel JA
|
9083308 |
1997 |
| 713 |
[Neuroimagings in neuronal migration disorders].
61
|
Okuno T...Hattori H
|
9071189 |
1997 |
| 714 |
A case of early myoclonic encephalopathy with the congenital nephrotic syndrome.
61
|
Nishikawa M...Furukawa S
|
9105663 |
1997 |
| 715 |
Teratogenicity of Aino virus in the chick embryo.
61
|
Kitano Y...Iwamoto T
|
9243724 |
1997 |
| 716 |
Agenesis of cerebellum associated with arrhinencephaly.
61
|
Leech RW...Brumback RA
|
9101111 |
1997 |
| 717 |
Extensive facial strawberry mark associated with cerebellar hypoplasia and vascular abnormalities.
61
|
Matsui T...Ikeda T
|
9065707 |
1997 |
| 718 |
[A new form of hereditary ataxia: X-linked congenital cerebellar hypoplasia (a clinical and molecular genetic analysis)].
61
|
Illarioshkin SN...Tsudzi S
|
9424342 |
1997 |
| 719 |
Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome.
61
|
Hayashi M...Morimatsu Y
|
8960322 |
1996 |
| 720 |
Hydranencephaly, cerebellar hypoplasia, and myopathy in chick embryos infected with aino virus.
61
|
Kitano Y...Shimizu T
|
8952026 |
1996 |
| 721 |
Neurologic anomalies of Perrault syndrome.
61
|
Gottschalk ME...Fox LA
|
8923934 |
1996 |
| 722 |
Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome.
61
|
Devriendt K...Fryns JP
|
8870617 |
1996 |
| 723 |
Late intrauterine Cytomegalovirus infection: clinical and neuroimaging findings.
61
|
Steinlin MI...Boltshauser EJ
|
8916166 |
1996 |
| 724 |
Clinical features of developmental disability associated with cerebellar hypoplasia.
61
|
Shevell MI...Majnemer A
|
8916160 |
1996 |
| 725 |
Lissencephaly with extreme cerebral and cerebellar hypoplasia. A magnetic resonance imaging study.
61
|
Kroon AA...Hennekam RC
|
8971750 |
1996 |
| 726 |
Bipolar disorders, dystonia, and compulsion after dysfunction of the cerebellum, dentatorubrothalamic tract, and substantia nigra.
61
|
Lauterbach EC
|
8894064 |
1996 |
| 727 |
Functional effects of methylazoxymethanol-induced cerebellar hypoplasia in rats.
61
|
Ferguson SA...Holson RR
|
8888017 |
1996 |
| 728 |
Cerebellar dysgenesis in infants and children: an experience of 22 cases.
61
|
Yang MT...Mak SC
|
8942027 |
1996 |
| 729 |
Cerebellar hypoplasia in respiratory chain dysfunction.
61
|
Lincke CR...Barth PG
|
8892374 |
1996 |
| 730 |
Pregnancies, calves and calf viability after transfer of in vitro produced bovine embryos.
61
|
Schmidt M...Hansen HB
|
16727920 |
1996 |
| 731 |
[A case of Smith-Magenis syndrome].
61
|
Yoshimuru K...Kurashige T
|
8753135 |
1996 |
| 732 |
X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq.
61
|
Illarioshkin SN...Tsuji S
|
8687195 |
1996 |
| 733 |
Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity.
61
|
Bonnemann CG...Meinecke P
|
8737647 |
1996 |
| 734 |
Molecular genetic characterization and comparative mapping of the human PCP4 gene.
61
|
Cabin DE...Reeves RH
|
8914602 |
1996 |
| 735 |
Dilated subarachnoid cisterna ambiens: a potential sonographic sign predicting cerebellar hypoplasia.
61
|
Ghidini A...Sherer DM
|
8731452 |
1996 |
| 736 |
Clinical, hematologic, and biochemical features of a syndrome in Bernese mountain dogs characterized by hepatocerebellar degeneration.
61
|
Carmichael KP...Miller BE
|
8635971 |
1996 |
| 737 |
Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome.
61
|
Williams TE...Sussman MD
|
8703231 |
1996 |
| 738 |
Unilateral cerebellar aplasia.
61
|
Boltshauser E...Deonna T
|
8677027 |
1996 |
| 739 |
Proliferation and teratogenicity of Aino virus in chick embryos.
61
|
Kitano Y...Shimizu T
|
8871535 |
1996 |
| 740 |
Chiari complex in children--neuroradiological diagnosis, neurosurgical treatment and proposal of a new classification (312 cases).
61
|
Cama A...Andreussi L
|
8770577 |
1995 |
| 741 |
Magnetic resonance imaging for the ante mortem diagnosis of cerebellar hypoplasia in a Holstein calf.
61
|
Gordon PJ...Dennis R
|
8966975 |
1995 |
| 742 |
[Carbohydrate-deficient glycoprotein syndrome].
61
|
Ohno K
|
8577056 |
1995 |
| 743 |
Disruption of cerebellar maturation by an antimitotic agent impairs the ontogeny of eyeblink conditioning in rats.
61
|
Freeman JH...Stanton ME
|
7472484 |
1995 |
| 744 |
Fryns syndrome survivors and neurologic outcome.
61
|
Van Hove JL...Kahler SG
|
8599357 |
1995 |
| 745 |
Partial deletion of chromosome 6p: autopsy findings in a premature infant and review of the literature.
61
|
Alashari M...Poskanzer L
|
8705204 |
1995 |
| 746 |
[Cerebellar hypoplasia in the newborn: association with respiratory control disorders and mental retardation].
61
|
Gonzalez de Dios J...Moya M
|
8556588 |
1995 |
| 747 |
Fetal hypokinesia syndrome in the monochorionic pair of a triplet pregnancy secondary to severe disruptive cerebral injury.
61
|
Perlman JM...Weinberg AG
|
7651789 |
1995 |
| 748 |
Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome.
61
|
Jensen PR...Skovby F
|
7666974 |
1995 |
| 749 |
Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.
61
|
Nijtmans LG...Van den Bogert C
|
7727543 |
1995 |
| 750 |
Brain lesions in calves following transplacental infection with bovine-virus diarrhoea virus.
61
|
Hewicker-Trautwein M...Trautwein G
|
7483906 |
1995 |
| 751 |
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.
61
|
Aalfs CM...Hennekam RC
|
7607282 |
1995 |
| 752 |
Cerebellar hypoplasia in the second trimester associated with microcephaly at birth.
61
|
Rees AE...Clarke H
|
7788497 |
1995 |
| 753 |
Pathogenesis of feline panleukopenia virus and canine parvovirus.
61
|
Parrish CR
|
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
|
Rudnik-Schoneborn S...Zerres K
|
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
|
Jung C...Stahl M
|
7537583 |
1995 |
| 756 |
Non-progressive familial congenital cerebellar hypoplasia.
61
|
al Shahwan SA...al Deeb SM
|
7722536 |
1995 |
| 757 |
A congenital abnormality of calves, suggestive of a new type of arthropod-borne virus infection.
61
|
Kitano Y...Makinoda K
|
7884059 |
1994 |
| 758 |
Hypoplasia of the cerebellar vermis and cognitive deficits in survivors of childhood leukemia.
61
|
Ciesielski KT...Snyder T
|
7945010 |
1994 |
| 759 |
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
61
|
Jaeken J...Spik G
|
7944531 |
1994 |
| 760 |
Brain lesions of fetal onset in encephalopathic infants with nonimmune hydrops fetalis.
61
|
Laneri GG...Scher MS
|
7986287 |
1994 |
| 761 |
Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome).
61
|
Stephan MJ...Goho C
|
8092188 |
1994 |
| 762 |
[Agyria-pachygyria and pachygyria in children. Contribution of imaging].
61
|
Chateil JF...Diard F
|
7994346 |
1994 |
| 763 |
A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia.
61
|
Berthet F...Seger RA
|
8033921 |
1994 |
| 764 |
Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.
61
|
Stibler H...Hagberg B
|
8201322 |
1994 |
| 765 |
New insights into the pathogenesis of congenital myopathies.
61
|
Sarnat HB
|
8006374 |
1994 |
| 766 |
Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations.
61
|
Barkovich AJ...Lindan CE
|
8010273 |
1994 |
| 767 |
[Myopathy, cerebellar ataxia and Williams syndrome like features in siblings].
61
|
Nishina M...Kinoshita M
|
8194269 |
1994 |
| 768 |
The brain in infantile autism: posterior fossa structures are abnormal.
61
|
Courchesne E...Saitoh O
|
8309561 |
1994 |
| 769 |
Cerebellar hypoplasia and hyperplasia in infantile autism.
61
|
Courchesne E...Schriebman L
|
7905084 |
1994 |
| 770 |
MRI in cerebellar hypoplasia.
61
|
deSouza N...Cox T
|
8183459 |
1994 |
| 771 |
[Pathophysiology of carbohydrate-deficient glycoprotein syndrome--neuroradiological and neurophysiological study].
61
|
Tayama M...Kuroda Y
|
8260207 |
1993 |
| 772 |
Cystic malformations of the posterior fossa: differential diagnosis clarified through embryologic analysis.
61
|
Kollias SS...Prenger EC
|
8031352 |
1993 |
| 773 |
Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.
61
|
Barth PG
|
8147499 |
1993 |
| 774 |
Mosaic r(13) in an infant with aprosencephaly.
61
|
Goldsmith CL...Hunter AG
|
8256818 |
1993 |
| 775 |
Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?
61
|
Jespers A...Janssens G
|
8213924 |
1993 |
| 776 |
Congenital cataract in the right eye and primary clinical anophthalmos of the left eye in a patient with cerebellar hypoplasia.
61
|
Matsui H...Setogawa T
|
8239329 |
1993 |
| 777 |
A new 3C syndrome: cerebellar hypoplasia, cavernous haemangioma and coarctation of the aorta.
61
|
Goh WH...Lo R
|
9435781 |
1993 |
| 778 |
Autosomal recessive cerebellar hypoplasia.
61
|
Harris CM...Russell-Eggitt I
|
8352862 |
1993 |
| 779 |
Granule cell type cerebellar hypoplasia in a beagle dog.
61
|
Tago Y...Tsuchitani M
|
8501896 |
1993 |
| 780 |
Cerebellar hypoplasia in the hyperbilirubinemic Gunn rat: morphological aspects.
61
|
Yamamura H...Takagishi Y
|
8247099 |
1993 |
| 781 |
Postmortem findings and prenatal diagnosis of Zellweger syndrome. Case report.
61
|
Lindhard A...Jeppesen D
|
8507459 |
1993 |
| 782 |
A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.
61
|
Hourihane JO...Martin ND
|
7682675 |
1993 |
| 783 |
Early manifestations of the carbohydrate-deficient glycoprotein syndrome.
61
|
Petersen MB...Skovby F
|
8419616 |
1993 |
| 784 |
Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome?
61
|
Chitayat D...Azouz EM
|
1481810 |
1992 |
| 785 |
Crossed cerebello-cerebral diaschisis: a SPECT study.
61
|
Boni S...Maini CL
|
1470425 |
1992 |
| 786 |
[Holoprosencephaly accompanied with dysgenesis of the cerebellum].
61
|
Yamashita N...Nagai H
|
1407346 |
1992 |
| 787 |
Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
61
|
Revesz T...DeBuse P
|
1404302 |
1992 |
| 788 |
Marinesco-Sjögren syndrome with reduced cytochrome c oxidase in muscle.
61
|
Kodama S...U M
|
1335096 |
1992 |
| 789 |
[Congenital oculomotor apraxia. Presentation--developmental problems--differential diagnosis].
61
|
Steinlin M...Boltshauser E
|
1614174 |
1992 |
| 790 |
Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome.
61
|
Dooley JM...Riding M
|
1622524 |
1992 |
| 791 |
Congenital oculomotor nerve palsy, cerebellar hypoplasia, and facial capillary hemangioma.
61
|
White WL...Tomasovic JJ
|
1575222 |
1992 |
| 792 |
Neurochemical and histological analysis of motor dysfunction observed in rats with methylnitrosourea-induced experimental cerebellar hypoplasia.
61
|
Fujimori K...Takanaka A
|
1377791 |
1992 |
| 793 |
Unilateral cerebellar hypoplasia.
61
|
Simon M...Kafritsas D
|
1606782 |
1992 |
| 794 |
Lethal cytomegalovirus infection in preterm infants: clinical, radiological, and neuropathological findings.
61
|
Perlman JM...Argyle C
|
1311911 |
1992 |
| 795 |
Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome.
61
|
Charrow J...Robinow M
|
1776639 |
1991 |
| 796 |
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus.
61
|
Stratton RF...Bluestone DL
|
1785627 |
1991 |
| 797 |
Absence of magnetic resonance imaging evidence of pontine abnormality in infantile autism.
61
|
Hsu M...Press GA
|
1953402 |
1991 |
| 798 |
[Incidence of fetal chromosomal aberration in prenatal cytogenetic examination].
61
|
Uehara S...Watanabe T
|
1955786 |
1991 |
| 799 |
An outbreak of fetal and neonatal losses associated with the diagnosis of bovine viral diarrhea virus.
61
|
Sprecher DJ...Yamini B
|
16727029 |
1991 |
| 800 |
Ataxia, dysmetria, tremor. Cerebellar diseases.
61
|
Kornegay JN
|
1802262 |
1991 |
| 801 |
[Dandy-Walker complex with multiple anomalies: report of one case].
61
|
Young HS...Tsang KT
|
2063687 |
1991 |
| 802 |
[Tracheal agenesis. A case report].
61
|
Dost P...Burrig KF
|
2036152 |
1991 |
| 803 |
New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures.
61
|
Pettigrew AL...Ledbetter DH
|
2018058 |
1991 |
| 804 |
Diaplacental infections with ruminant pestiviruses.
61
|
Osburn BI...Castrucci G
|
9210928 |
1991 |
| 805 |
Cerebellar hypoplasia associated with Arnold-Chiari malformation in a Japanese shorthorn calf.
61
|
Madarame H...Konno S
|
2019668 |
1991 |
| 806 |
The transverse cerebellar diameter in the second trimester is unaffected by Down syndrome.
61
|
Hill LM...Marchese S
|
1824739 |
1991 |
| 807 |
Magnetic resonance imaging of the brain in congenital rubella virus and cytomegalovirus infections.
61
|
Sugita K...Niimi H
|
1652704 |
1991 |
| 808 |
Hereditary cerebellar hypoplasia.
61
|
Elpeleg ON...Shalev RS
|
2002208 |
1991 |
| 809 |
Meckel-Gruber syndrome. Importance of prenatal diagnosis.
61
|
Nyberg DA...Hickok D
|
2277397 |
1990 |
| 810 |
Bovine viral diarrhea virus-induced cerebellar disease in a calf.
61
|
Riond JL...Anderson KL
|
2276963 |
1990 |
| 811 |
A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.
61
|
Ahdab-Barmada M...Claassen D
|
2230839 |
1990 |
| 812 |
CHARGE and Joubert syndromes: are they a single disorder?
61
|
Menenzes M...Coker SB
|
1981467 |
1990 |
| 813 |
Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism.
61
|
Abs R...Martin JJ
|
2243234 |
1990 |
| 814 |
An outbreak of congenital hydranencephaly and cerebellar hypoplasia among calves in South Kyushu, Japan: a pathological study.
61
|
Tateyama S...Otsuka H
|
2236906 |
1990 |
| 815 |
Hydranencephaly-cerebellar hypoplasia in a newborn calf after infection of its dam with Chuzan virus.
61
|
Miura Y...Kono Y
|
2167994 |
1990 |
| 816 |
[An animal model for underdevelopment of the CNS--bilirubin-induced cerebellar hypoplasia].
61
|
Kashiwamata S...Sato H
|
2356329 |
1990 |
| 817 |
Acrocallosal syndrome.
61
|
Hendriks HJ...Hamel BC
|
2309796 |
1990 |
| 818 |
Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease).
61
|
Kamoshita S...Saito K
|
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
|
Kim TS...Dickson DW
|
2339594 |
1990 |
| 820 |
CT and MR diagnosis of cerebellar hypoplasia.
61
|
D'Archambeau O...De Moor J
|
2621203 |
1989 |
| 821 |
[Clinical spectrum and congenital anomalies in trisomy 18].
61
|
Arizawa M...Suehara N
|
2584807 |
1989 |
| 822 |
Moebius' syndrome with unilateral cerebellar hypoplasia.
61
|
Harbord MG...Baraitser M
|
2810343 |
1989 |
| 823 |
Autosomal recessive cerebellar hypoplasia.
61
|
Mathews KD...Hanson JW
|
2768782 |
1989 |
| 824 |
Lissencephaly and pachygyria.
61
|
Banna M...Malabarey T
|
2736411 |
1989 |
| 825 |
Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia.
61
|
Dobyns WB
|
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
|
Takagishi Y...Yamamura H
|
2709808 |
1989 |
| 827 |
Critical period of bilirubin-induced cerebellar hypoplasia in a new Sprague-Dawley strain of jaundiced Gunn rats.
61
|
Keino H...Kashiwamata S
|
2710423 |
1989 |
| 828 |
Positron emission tomography of the cerebellum in autism.
61
|
Heh CW...Buchsbaum MS
|
2783541 |
1989 |
| 829 |
Etiologic heterogeneity in dyskeratosis congenita.
61
|
Pai GS...Whetsell C
|
2705484 |
1989 |
| 830 |
Ovine arthrogryposis and central nervous system malformations associated with in utero Cache Valley virus infection: spontaneous disease.
61
|
Edwards JF...Collisson EC
|
2492399 |
1989 |
| 831 |
Keratitis, ichthyosis, and deafness (KID) syndrome with cerebellar hypoplasia.
61
|
Hsu HC...Li WM
|
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
|
Goto Y...Kono Y
|
3239837 |
1988 |
| 833 |
Cerebellar hypoplasia and autism.
61
|
|
3173446 |
1988 |
| 834 |
A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.
61
|
Hreidarsson S...Johannsson JH
|
3201986 |
1988 |
| 835 |
Pharmacological and biological effects of tin-protoporphyrin on neonatal hyperbilirubinemic Gunn rats.
61
|
Nagae H...Kashiwamata S
|
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
|
Goto Y...Kono Y
|
2838675 |
1988 |
| 837 |
Comparative study of glial marker proteins in the hypoplastic cerebellum of jaundiced Gunn rats.
61
|
Aono S...Eng LF
|
3339348 |
1988 |
| 838 |
[Cerebellar hypoplasia and hydranencephaly in cattle after transplacental bovine diarrhea virus infection].
61
|
Trautwein G...Peters W
|
3322778 |
1987 |
| 839 |
Congenital granuloprival hypoplasia of cerebellar and hippocampal cortex.
61
|
Chou SM...Rothner AD
|
3655208 |
1987 |
| 840 |
[Autopsy of a patient with cerebellar hypoplasia].
61
|
Hasegawa R...Matsuda H
|
3663412 |
1987 |
| 841 |
Sex-linked recessive congenital ataxia.
61
|
Young ID...Tripp JH
|
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
|
Benoit P...Chappuis G
|
3040186 |
1987 |
| 843 |
Different behaviors among lysosomal enzymes in the cerebellum of jaundiced Gunn rats with cerebellar hypoplasia.
61
|
Sato H...Kashiwamata S
|
3033152 |
1987 |
| 844 |
Arhinencephaly. The spectrum of associated malformations.
61
|
Kobori JA...Urich H
|
3801853 |
1987 |
| 845 |
The pathogenesis of rat virus infection in infant and juvenile rats after oronasal inoculation.
61
|
Jacoby RO...Johnson EA
|
3038056 |
1987 |
| 846 |
The critical period of Purkinje cell degeneration and cerebellar hypoplasia due to bilirubin.
61
|
Takagishi Y...Yamamura H
|
3434214 |
1987 |
| 847 |
Serotonin metabolism in the CNS in cerebellar ataxic mice.
61
|
Ohsugi K...Ando K
|
2430828 |
1986 |
| 848 |
Trichlorfon-induced congenital cerebellar hypoplasia in neonatal pigs.
61
|
Pope AM...Knobloch CP
|
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
|
Kawagoe T...Jacob H
|
3466729 |
1986 |
| 850 |
[Congenital cerebellar hypoplasia with bone lesions].
61
|
Stoll C...Levy JM
|
3729252 |
1986 |
| 851 |
Alterations in the noradrenergic projection to the cerebellum of the dystonic (dt) rat.
61
|
McKeon TW...Oltmans GA
|
3008916 |
1986 |
| 852 |
Cerebral dysgeneses and their influence on fetal muscle development.
61
|
Sarnat HB
|
3541664 |
1986 |
| 853 |
Congenital ocular motor apraxia.
61
|
Fielder AR...Levene MI
|
2432703 |
1986 |
| 854 |
Neu-Laxova syndrome: report of two cases.
61
|
Ejeckam GG...Lacson AG
|
3786261 |
1986 |
| 855 |
Necrosis of the fetal brain stem with cerebellar hypoplasia.
61
|
Gessaga EC...Urich H
|
3754374 |
1986 |
| 856 |
Enlarged fetal cisterna magna: appearance and significance.
61
|
Comstock CH...Boal DB
|
3895082 |
1985 |
| 857 |
Agenesis of the corpus callosum and macrocephaly in siblings.
61
|
Young ID...Moore JR
|
3905089 |
1985 |
| 858 |
Cerebellar hypoplasia in the Gunn rat is associated with quantitative changes in neurotypic and gliotypic proteins.
61
|
O'Callaghan JP...Miller DB
|
2410596 |
1985 |
| 859 |
Partial trisomy 5q and partial monosomy 5q within the same family.
61
|
Lazjuk GI...Ostrovskaya TI
|
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
|
Aono S...Eng LF
|
3989566 |
1985 |
| 861 |
[Does the brain influence the muscular development of the human fetus? Evidence in 21 cases].
61
|
Sarnat HB
|
4016591 |
1985 |
| 862 |
Autosomal recessive congenital cerebellar hypoplasia.
61
|
Wichman A...Kelly TE
|
3995786 |
1985 |
| 863 |
Neuropathological and Golgi study on a case of thanatophotoric dysplasia.
61
|
Shigematsu H...Ieshima A
|
3832954 |
1985 |
| 864 |
Mode of prevention by phototherapy of cerebellar hypoplasia in a new Sprague-Dawley strain of jaundiced Gunn rats.
61
|
Keino H...Kashiwamata S
|
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
|
Rutledge JC...Chen H
|
6507477 |
1984 |
| 866 |
[Ultrasonographic evaluation of infratentorial lesions, with special reference to cerebellar hypoplasia].
61
|
Nakajima Y...Yanagisawa S
|
6388597 |
1984 |
| 867 |
Cerebral calcifications and cerebellar hypoplasia in two children: clinical, radiologic and neuropathological studies--a separate neurodevelopmental entity.
61
|
Troost D...Willemse J
|
6738816 |
1984 |
| 868 |
Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy.
61
|
de Leon GA...D'Cruz CA
|
6475488 |
1984 |
| 869 |
Rates of protein synthesis and degradation in Gunn rat cerebellum with bilirubin-induced cerebellar hypoplasia.
61
|
Katoh-Semba R...Kashiwamata S
|
6536880 |
1984 |
| 870 |
Interhemispheral neuroepithelial (glio-ependymal) cysts, associated with agenesis of the corpus callosum and neocortical maldevelopment. A case study.
61
|
Barth PG...Stam FC
|
6499568 |
1984 |
| 871 |
Unilateral cerebellar hypoplasia.
61
|
Mendelsohn DB...Spiro F
|
6630638 |
1983 |
| 872 |
Accumulation of cholesteryl esters associated with cerebellar hypoplasia in jaundiced Gunn rats.
61
|
Kashiwamata S...Semba R
|
6617810 |
1983 |
| 873 |
Two proteins associated with cerebellar hypoplasia in jaundiced Gunn rats.
61
|
Aono S...Kashiwamata S
|
6621772 |
1983 |
| 874 |
Pathology in the ovine foetus caused by an ovine pestivirus.
61
|
Plant JW...Gard GP
|
6311154 |
1983 |
| 875 |
Intrauterine multisystem atrophy in siblings: a new genetic syndrome?
61
|
Herrick MK...Urich H
|
6624387 |
1983 |
| 876 |
Cerebellar hypoplasia, communicating hydrocephalus and mental retardation in two brothers and a maternal uncle.
61
|
Renier WO...Beckers H
|
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
|
Aoki E...Kashiwamata S
|
6288860 |
1982 |
| 878 |
Neurochemical studies on the cerebellar hypoplasia of Gunn rat (hereditary hyperbilirubinemic rat).
61
|
Mikoshiba K...Tsukada Y
|
6288859 |
1982 |
| 879 |
Cerebellar hypoplasia in beef shorthorn calves.
61
|
Swan RA...Taylor EG
|
7159314 |
1982 |
| 880 |
Facial hemangioma with cerebrovascular anomalies and cerebellar hypoplasia.
61
|
Mizuno Y...Goya N
|
7137514 |
1982 |
| 881 |
Congenital tremor in pigs farrowed from sows given hog cholera virus during pregnancy.
61
|
Vannier P...Tillon JP
|
7224307 |
1981 |
| 882 |
[Congenital tremor and cerebellar hypoplasia in piglets following treatment of sows with Neguvon during pregnancy].
61
|
Fatzer R...Scholl E
|
7221536 |
1981 |
| 883 |
Cerebellar hypoplasia in the Gunn rat with hereditary hyperbilirubinemia: immunohistochemical and neurochemical studies.
61
|
Mikoshiba K...Tsukada Y
|
6255097 |
1980 |
| 884 |
Characteristic changes of cerebellar proteins associated with cerebellar hypoplasia in jaundiced Gunn rats and the prevention of these by phototherapy.
61
|
Kashiwamata S...Semba RK
|
7418786 |
1980 |
| 885 |
[Brain teratology as a result of transplacental virus infection in ruminants].
61
|
Coetzer JA
|
6267276 |
1980 |
| 886 |
Human cerebellar hypoplasia: a syndrome of diverse causes.
61
|
Sarnat HB...Alcala H
|
7387451 |
1980 |
| 887 |
Oculocerebral malformations. A reappraisal of Walker's 'lissencephaly'.
61
|
Chan CC...Urich H
|
6766714 |
1980 |
| 888 |
[Development of behavioral function of cerebellar hypoplasia rats as induced by cytosine arabinoside (ara-C) (author's transl)].
61
|
Ogura H...Chiba T
|
6155317 |
1980 |
| 889 |
Wesselsbron disease: a cause of congenital porencephaly and cerebellar hypoplasia in calves.
61
|
Coetzer JA...Kritzinger L
|
551364 |
1979 |
| 890 |
Congenital cerebellar hypoplasia in newborn calves.
61
|
Narita M...Inui S
|
550073 |
1979 |
| 891 |
Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome).
61
|
Seigel RS...Allen RJ
|
758643 |
1979 |
| 892 |
Congenital ataxia and tremor with cerebellar hypoplasia in piglets borne by sows treated with Neguvon vet. (metrifonate, trichlorfon) during pregnancy.
61
|
Knox B...Rasmussen F
|
733482 |
1978 |
| 893 |
Congenital tremor in pigs in Sweden. A case report.
61
|
Bolske G...Lindgren NO
|
733481 |
1978 |
| 894 |
Congenital hydranencephaly and cerebellar hypoplasia in calves.
61
|
Greene HJ
|
721674 |
1978 |
| 895 |
A case of partial cerebellar hypoplasia in a cat.
61
|
Kronevi T...Lesser J
|
662593 |
1978 |
| 896 |
California goats with a disease resembling enzootic ataxia or swayback.
61
|
Cordy DR...Knight HD
|
566481 |
1978 |
| 897 |
Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas.
61
|
Pascual-Castroviejo I
|
740218 |
1978 |
| 898 |
Impairment of DNA synthesis in Gunn rat cerebellum.
61
|
Yamada N...Nakajima H
|
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
|
Yoon CH
|
870618 |
1977 |
| 900 |
Congenital cerebellar hypoplasia in jersey calves.
61
|
Allen JG
|
194564 |
1977 |
| 901 |
Cerebellar hypoplasia and motor development in congenitally jaundiced Gunn rats.
61
|
Tamaki Y...Tooyama S
|
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
|
Oster-Granite ML...Herndon RM
|
789416 |
1976 |
| 903 |
Developmental features of cerebellar hypoplasia and brain bilirubin levels in a mutant (Gunn) rat with hereditary hyperbilirubinaemia.
61
|
Sawasaki Y...Nakajima H
|
966000 |
1976 |
| 904 |
Cerebellar hypoplasia in an infant with congenital cytomegalovirus infection.
61
|
Ceballos R...Brans YW
|
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
|
del Cerro M...Monjan AA
|
1104999 |
1975 |
| 906 |
[Cerebellar hypoplasia. Report of 3 cases in a family].
61
|
Ortega R...Escobar A
|
1205083 |
1975 |
| 907 |
Cerebellar hypoplasia of genetic origin in calves.
61
|
O'Sullivan BM...McPhee CP
|
1200928 |
1975 |
| 908 |
Cytarabine and its effect on cerebellum of suckling mouse.
61
|
Shimada M...Kusonoki T
|
1156213 |
1975 |
| 909 |
Congenital defects of the nervous system of lambs.
61
|
Dennis SM
|
1103813 |
1975 |
| 910 |
Cerebellar hypoplasia in Werdnig-Hoffmann disease.
61
|
Weinberg AG...Kirkpatrick JB
|
1158057 |
1975 |
| 911 |
Cerebellar hypoplasia of unknown etiology in pigs.
61
|
Kronevi T...Jonsson OJ
|
1146159 |
1975 |
| 912 |
Taratogenic effects of the pyrimidine analogues 5-iododeoxyuridine and cytosine arabinoside in late fetal mice and rats.
61
|
Percy DH
|
806125 |
1975 |
| 913 |
Postnantal cerebellar hypoplasia and dysfunction following methylazoxymethanol acetate treatment (38495).
61
|
Grondin G...TAYLOR W
|
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
|
Monjan AA...Nathanson N
|
4609903 |
1974 |
| 915 |
Cerebellar hypoplasia and degeneration in part-Arab horses.
61
|
Baird JD...Mackenzie CD
|
4819469 |
1974 |
| 916 |
Cerebellar hypoplasia and degeneration in the young Arab horse: clinical and neuropathological features.
61
|
Palmer AC...Whitwell KE
|
4748678 |
1973 |
| 917 |
Micrognathia and cerebellar hypoplasia in an Aberdeen Angus herd.
61
|
Edmonds L...Selby LA
|
4736395 |
1973 |
| 918 |
|
