X-linked disorders with cerebellar dysgenesis - Wikidata - awgldk - TriplyDB

X-linked disorders with cerebellar dysgenesis

X-linked disorders with cerebellar dysgenesis

http://www.wikidata.org/entity/Q21202871

about

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 A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden.Genetics of Hereditary Ataxia in Scottish Terriers.Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI.Mean Expression of the X-Chromosome is Associated with Neuronal Density T-Cells Underlie Some but Not All of the Cerebellar Pathology in a Neonatal Rat Model of Congenital Lymphocytic Choriomeningitis Virus Infection.Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.Current concepts in the treatment of hereditary ataxias.Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia.Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

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P2860

X-linked disorders with cerebellar dysgenesis

http://www.wikidata.org/entity/Q21202871

description

2011 nî lūn-bûn

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2011 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի մայիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年学术文章

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2011年学术文章

@zh-cn

2011年学术文章

@zh-hans

2011年学术文章

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2011年学术文章

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2011年學術文章

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name

X-linked disorders with cerebellar dysgenesis

@ast

X-linked disorders with cerebellar dysgenesis

@en

X-linked disorders with cerebellar dysgenesis

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X-linked disorders with cerebellar dysgenesis

@nl

type

label

X-linked disorders with cerebellar dysgenesis

@ast

X-linked disorders with cerebellar dysgenesis

@en

X-linked disorders with cerebellar dysgenesis

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X-linked disorders with cerebellar dysgenesis

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prefLabel

X-linked disorders with cerebellar dysgenesis

@ast

X-linked disorders with cerebellar dysgenesis

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X-linked disorders with cerebellar dysgenesis

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X-linked disorders with cerebellar dysgenesis

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Orphanet Journal of Rare Diseases

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X-linked disorders with cerebellar dysgenesis

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Creative Commons Attribution 2.0 Generic

P2860

Joubert Syndrome and related disorders

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

X-linked situs abnormalities result from mutations in ZIC3

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

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X-linked disease

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