1 |
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.
53
62
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Turkmen S...Mundlos S
|
18364738 |
2008 |
2 |
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene.
53
62
|
Bedeschi MF...Lalatta F
|
18512229 |
2008 |
3 |
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
53
62
|
Moheb LA...Kuss AW
|
18043714 |
2008 |
4 |
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.
53
62
|
Vermeer S...Lefeber DJ
|
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.
53
62
|
Khelfaoui M...Billuart P
|
17728457 |
2007 |
6 |
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
53
62
|
Uyanik G...Winkler J
|
17664403 |
2007 |
7 |
The role of RELN in lissencephaly and neuropsychiatric disease.
53
62
|
Chang BS...Walsh CA
|
16958033 |
2007 |
8 |
Genetic malformations of cortical development.
53
62
|
Guerrini R...Marini C
|
16724181 |
2006 |
9 |
Pathogenesis of migration disorders.
53
62
|
Gressens P
|
16538086 |
2006 |
10 |
[Monogenic causes of X-linked mental retardation].
53
62
|
Guillen-Navarro E...Glover-Lopez G
|
16506132 |
2006 |
11 |
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.
53
62
|
Zanni G...Chelly J
|
16221952 |
2005 |
12 |
Neuronal migration disorders, genetics, and epileptogenesis.
53
62
|
Guerrini R...Filippi T
|
15921228 |
2005 |
13 |
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
53
62
|
Bergmann C...Ramaekers VT
|
12805098 |
2003 |
14 |
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
53
62
|
Philip N...Villard L
|
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.
53
62
|
Sarnat HB...Cheyette SR
|
11815869 |
2002 |
16 |
Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria.
53
62
|
Eriksson SH...Sisodiya SM
|
11408330 |
2001 |
17 |
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
53
62
|
Hong SE...Walsh CA
|
10973257 |
2000 |
18 |
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
53
62
|
Knight SW...Dokal I
|
10583221 |
1999 |
19 |
Tubulin mutations in human neurodevelopmental disorders.
62
|
Maillard C...Buisson NB
|
35915025 |
2023 |
20 |
Prenatal Diagnosis and Neurodevelopmental Outcome in Isolated Cerebellar Hypoplasia of Suspected Hemorrhagic Etiology: a Retrospective Cohort Study.
62
|
Scelsa B...Rustico M
|
34799840 |
2022 |
21 |
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
62
|
Sakamoto M...Matsumoto N
|
36305856 |
2022 |
22 |
Intrauterine Zika virus infection: review of the current findings with emphasis in the prenatal and postnatal brain imaging diagnostic methods.
62
|
Santana EFM...Araujo Junior E
|
33781162 |
2022 |
23 |
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
62
|
Brar BK...Fetal Sequencing Consortium
|
36403095 |
2022 |
24 |
Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia.
62
|
Gilboa T...Hacohen N
|
36445597 |
2022 |
25 |
Spirocercosis and Parvovirus in an Imported Dog: Implications for Biosecurity and Foreign Infectious Disease Risk.
62
|
Wong E...Koenig A
|
36371066 |
2022 |
26 |
Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
62
|
Yu QX...Li DZ
|
35801292 |
2022 |
27 |
Cerebellar Hypoplasia in Two Juvenile African Grey Parrots (Psittacus erithacus).
62
|
Taggers A...Doneley RJT
|
36468809 |
2022 |
28 |
Relationship of Impairments in Associative Learning With Intellectual Disability and Cerebellar Hypoplasia in Children With Autism.
62
|
Welsh JP...Estes AM
|
36443015 |
2022 |
29 |
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.
62
|
Abdel-Salam GMH...Abdel-Hamid MS
|
35896821 |
2022 |
30 |
Complete loss of the X-linked gene CASK causes severe cerebellar degeneration.
62
|
Patel PA...Mukherjee K
|
35149592 |
2022 |
31 |
Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders.
62
|
Yang K...Chen Y
|
36168867 |
2022 |
32 |
Haploidentical Hematopoietic Stem Cell Transplantation in a 3-Year-Old Girl with Congenital Amegakaryocytic Thrombocytopenia: A Case Report.
62
|
Wang S...Zhu Y
|
36379227 |
2022 |
33 |
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
62
|
Chu CM...Tseng CK
|
36309505 |
2022 |
34 |
Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies.
62
|
Yang H...Xiong H
|
35863218 |
2022 |
35 |
CASK loss of function differentially regulates neuronal maturation and synaptic function in human induced cortical excitatory neurons.
62
|
McSweeney D...Pak C
|
36262316 |
2022 |
36 |
Abnormal vestibular brainstem structure and function in an animal model of autism spectrum disorder.
62
|
Mansour Y...Kulesza R
|
35985362 |
2022 |
37 |
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.
62
|
Cheng C...Kimonis V
|
36280881 |
2022 |
38 |
Fetal Unilateral Cerebellar Hypoplasia.
62
|
Madhubala B...Ramachandran R
|
36352699 |
2022 |
39 |
Deletion of CHD8 in cerebellar granule neuron progenitors leads to severe cerebellar hypoplasia, ataxia, and psychiatric behavior in mice.
62
|
Chen X...Zhou W
|
35231638 |
2022 |
40 |
Expanding the natural history of CASK-related disorders to the prenatal period.
62
|
Gafner M...Cask Study Group*
|
36175354 |
2022 |
41 |
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
62
|
Di Donato N...Dobyns WB
|
35769015 |
2022 |
42 |
Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
62
|
Dubbs H...Marsh ED
|
35670295 |
2022 |
43 |
Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience.
62
|
Bilge S...Havali C
|
36076253 |
2022 |
44 |
Hypothesis: By-products of vascular disruption carried in the CSF affect prenatal brain development.
62
|
Lubinsky M
|
35775635 |
2022 |
45 |
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.
62
|
Zago S...Bonasoni MP
|
36048137 |
2022 |
46 |
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
62
|
Mishra R...Dua Puri R
|
35499143 |
2022 |
47 |
Severe cerebellar malformations in mutant mice demonstrate a role for PDGF-C/PDGFRα signalling in cerebellar development.
62
|
Gillnas S...Andrae J
|
35876806 |
2022 |
48 |
PI4KA-Related Disorder
62
|
Baple EL...Crosby AH
|
35951779 |
2022 |
49 |
Fetal Pontine Tegmental Cap Dysplasia- A Case Report.
62
|
Priyanka C...Suresh I
|
36076676 |
2022 |
50 |
A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review.
62
|
Spyridakis AC...Litra F
|
36004024 |
2022 |