Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
about
X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASKUpdate on neuroimaging phenotypes of mid-hindbrain malformations.Acute myopia and angle closure glaucoma from topiramate in a seven-year-old: a case report and review of the literature.Phenotypic and molecular insights into CASK-related disorders in males.MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation.Mitochondrial epilepsy in pediatric and adult patients.Structural constraints and functional divergences in CASK evolution.Genetic disorders associated with postnatal microcephaly.Introduction: Brain malformations.The Eye on Mitochondrial Disorders.Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates.Terminology in morphological anomalies of the cerebellum does matter.A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation.RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation.Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.Novel CASK mutations in cases with syndromic microcephaly.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Copy number variations in children with brain malformations and refractory epilepsy.A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
P2860
Q27317003-ADB294A5-4644-4016-81BE-A0679A09AAABQ28539549-81ABE112-64E5-4BFE-82BA-B265989F2245Q30863712-03A2EB28-E698-4EC5-B537-968A63E9B726Q35142536-EFB1B311-5B44-4CAE-A3AA-E21ED8961219Q35668098-386131E9-84CE-4C67-A6B4-11ACA65A01CBQ37043658-4772C61C-ED1B-4803-90D3-1B17A3FC84E2Q38088309-6E1328FE-75F5-4115-A437-B0B8BF49E276Q38122235-D91A8541-8583-4BDE-BB83-A3027DBC68B6Q38212652-B39F78D5-D149-49CB-AAD2-0229AF2AD5D4Q38213961-39C89DDB-A890-462C-9518-B96E5C2A9EB3Q38567104-E1857A40-759B-499F-B1E2-A07F54AF7FF4Q41281131-BBB502C3-18FF-41F7-A4C0-B56ECFA0836BQ41700166-C02D0B2D-7964-47D7-A20A-59166E3E56D8Q42631334-EAC21A69-EE64-456B-A24B-B4E421D23891Q42930599-A7FBEF21-274F-4989-96F5-1D2670EFBB18Q47121361-E62BE351-8500-47C2-AC9B-51AEB365F297Q48820438-42EF5200-F05D-4E75-BC84-72CEF009F9ABQ49165943-376C0514-2FCE-436A-AFA8-B576C464FE69Q50349326-CB2F37EC-56B9-4E67-8638-3F299FCF0EBCQ52565159-879A35D7-3555-4B3D-A62F-6F794CB173DDQ53577198-3A754577-C9DB-43D5-A10B-E8EF3B811B60Q53612711-79C0DEA0-DBC0-433E-9680-C724D216A427Q55004829-51BBDAE4-69D2-4636-8582-746AF4B4AB0FQ55441218-48AE7D80-22A4-41DD-8BAA-2681331F467C
P2860
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
description
2012 nî lūn-bûn
@nan
2012 թուականին հրատարակուած գիտական յօդուած
@hyw
2012 թվականին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
name
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@ast
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@en
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@en-gb
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@nl
type
label
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@ast
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@en
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@en-gb
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@nl
prefLabel
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@ast
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@en
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@en-gb
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@nl
P2093
P2860
P50
P3181
P356
P1476
Spectrum of pontocerebellar hy ...... ption of a male mosaic patient
@en
P2093
Alexandra Afenjar
Aurélie Coussement
Christine Ioos
Cyril Goizet
Diana Rodriguez
Isabelle Desguerre
Jean-Pierre Siffroi
Leila Lazaro
Lydie Burglen
Mathieu Milh
P2860
P2888
P3181
P356
10.1186/1750-1172-7-18
P407
P50
P577
2012-01-01T00:00:00Z
P5875
P6179
1039457198