X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.
about
X-linked disorders with cerebellar dysgenesisChristianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit developmentSeizures and X-linked intellectual disabilityDiscovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsCharacterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological diseaseA mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.Syndromic XLMR genes (MRXS): update 2000.Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.The Na+/H+ exchanger NHE6 modulates endosomal pH to control processing of amyloid precursor protein in a cell culture model of Alzheimer disease.X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.Molecular and Clinical Aspects of Angelman Syndrome.Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalitiesSLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell deathClinical and genetic aspects of Angelman syndrome.Genetics, molecular biology, and phenotypes of x-linked epilepsy.Traditional and emerging roles for the SLC9 Na+/H+ exchangers.Genetic disorders associated with postnatal microcephaly.Emerging roles of Na⁺/H⁺ exchangers in epilepsy and developmental brain disorders.Endosomal system genetics and autism spectrum disorders: A literature review.The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.Genetic control of postnatal human brain growth.Inaugural Christianson Syndrome Association conference: families meeting for the first time.A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.Genes for endosomal NHE6 and NHE9 are misregulated in autism brains.Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome.Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndromeX-linked congenital ataxia: A new locus maps to Xq25-q27.1
P2860
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P2860
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.
description
1999 nî lūn-bûn
@nan
1999 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
X linked severe mental retarda ...... dred is localised to Xq24-q27.
@ast
X linked severe mental retarda ...... dred is localised to Xq24-q27.
@en
type
label
X linked severe mental retarda ...... dred is localised to Xq24-q27.
@ast
X linked severe mental retarda ...... dred is localised to Xq24-q27.
@en
prefLabel
X linked severe mental retarda ...... dred is localised to Xq24-q27.
@ast
X linked severe mental retarda ...... dred is localised to Xq24-q27.
@en
P2093
P2860
P356
P1476
X linked severe mental retarda ...... dred is localised to Xq24-q27.
@en
P2093
A L Christianson
C E Schwartz
C H van der Meyden
F W Theron
M Chandler
P L van Rensburg
R E Stevenson
P2860
P304
P356
10.1136/JMG.36.10.759
P407
P577
1999-10-01T00:00:00Z