A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.
about
Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomyRegulation of X-chromosome inactivation in development in mice and humansDG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genesTargeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.Heterogeneous X inactivation in trophoblastic cells of human full-term female placentasSex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers.X-chromosome inactivation patterns in Korean women with idiopathic recurrent spontaneous abortion.IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic featuresThe X chromosome and ovarian failure.Comparison of X-chromosome inactivation patterns in multiple tissues from human females.Xist yeast artificial chromosome transgenes function as X-inactivation centers only in multicopy arrays and not as single copiesThe clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.The causes and consequences of random and non-random X chromosome inactivation in humans.Clinical and genetic characterization of manifesting carriers of DMD mutationsX-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movementsX chromosome inactivation in carriers of Barth syndrome.Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.Polymorphic X-chromosome inactivation of the human TIMP1 gene.Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortionInvited review: sex-based differences in gene expression.Differential methylation of Xite and CTCF sites in Tsix mirrors the pattern of X-inactivation choice in mice.Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.X-linked clonality testing: interpretation and limitationsMapping of DNA replication origins to noncoding genes of the X-inactivation center.X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.Genetic control of X chromosome inactivation in mice: definition of the Xce candidate intervalCopy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation.Functional intergenic transcription: a case study of the X-inactivation centre.Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.A novel cytofluorometric assay for the detection and quantification of glucose-6-phosphate dehydrogenase deficiency.Analysis of C43G mutation in the promoter region of the XIST gene in patients with idiopathic primary ovarian insufficiency.X-chromosome genetics and human cancer.X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.Skewing X chromosome choice by modulating sense transcription across the Xist locusX chromosome inactivation in women with alcoholism.No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans.A skewed view of X chromosome inactivation.
P2860
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P2860
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.
description
1997 nî lūn-bûn
@nan
1997 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
A promoter mutation in the XIS ...... wed X-chromosome inactivation.
@ast
A promoter mutation in the XIS ...... wed X-chromosome inactivation.
@en
A promoter mutation in the XIS ...... wed X-chromosome inactivation.
@nl
type
label
A promoter mutation in the XIS ...... wed X-chromosome inactivation.
@ast
A promoter mutation in the XIS ...... wed X-chromosome inactivation.
@en
A promoter mutation in the XIS ...... wed X-chromosome inactivation.
@nl
prefLabel
A promoter mutation in the XIS ...... wed X-chromosome inactivation.
@ast
A promoter mutation in the XIS ...... wed X-chromosome inactivation.
@en
A promoter mutation in the XIS ...... wed X-chromosome inactivation.
@nl
P2093
P2860
P356
P1433
P1476
A promoter mutation in the XIS ...... wed X-chromosome inactivation.
@en
P2093
Hendrich BD
Sapienza C
Schwartz C
Willard HF
P2860
P2888
P304
P356
10.1038/NG1197-353
P407
P577
1997-11-01T00:00:00Z