X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis
about
Alpha thalassaemia-mental retardation, X linkedA high-coverage genome sequence from an archaic Denisovan individualLoss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissues.Alpha thalassaemia mental retardation (ATR-X): an atypical family.Analysis of neonatal brain lacking ATRX or MeCP2 reveals changes in nucleosome density, CTCF binding and chromatin loopingX chromosome inactivation in carriers of Barth syndrome.Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.Disseminated peritoneal leiomyomatosis. Clonality analysis by X chromosome inactivation and cytogenetics of a clinically benign smooth muscle proliferation.Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse modelSplicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemiaA novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndromeHeritability of X chromosome--inactivation phenotype in a large family.High-throughput genotyping of CRISPR/Cas9-mediated mutants using fluorescent PCR-capillary gel electrophoresis.α-Thalassemia, mental retardation, and myelodysplastic syndrome.Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndromeTrichothiodystrophy with sideroblastic anaemia and developmental delay.Genetic control of X inactivation and processes leading to X-inactivation skewing.Ribosomal DNA copy loss and repeat instability in ATRX-mutated cancers.SA4503, A Potent Sigma-1 Receptor Ligand, Ameliorates Synaptic Abnormalities and Cognitive Dysfunction in a Mouse Model of ATR-X Syndrome
P2860
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P2860
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis
description
1992 nî lūn-bûn
@nan
1992 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
X-linked alpha-thalassemia/men ...... ctivation and linkage analysis
@ast
X-linked alpha-thalassemia/men ...... ctivation and linkage analysis
@en
X-linked alpha-thalassemia/men ...... ctivation and linkage analysis
@nl
type
label
X-linked alpha-thalassemia/men ...... ctivation and linkage analysis
@ast
X-linked alpha-thalassemia/men ...... ctivation and linkage analysis
@en
X-linked alpha-thalassemia/men ...... ctivation and linkage analysis
@nl
prefLabel
X-linked alpha-thalassemia/men ...... ctivation and linkage analysis
@ast
X-linked alpha-thalassemia/men ...... ctivation and linkage analysis
@en
X-linked alpha-thalassemia/men ...... ctivation and linkage analysis
@nl
P2093
P2860
P1476
X-linked alpha-thalassemia/men ...... ctivation and linkage analysis
@en
P2093
A O Wilkie
G K Suthers
R J Gibbons
V J Buckle
P2860
P304
P407
P577
1992-11-01T00:00:00Z