High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.
about
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal originThe origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier malesHardy, Weinberg and language impedimentsThe high spontaneous mutation rate: is it a health risk?Rett syndrome and MeCP2: linking epigenetics and neuronal functionRett syndrome: clinical review and genetic updateRett syndrome and the MECP2 geneChromosome mapping of Rett syndrome: a likely candidate region on the telomere of XqLinkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspotsRefining the Y chromosome phylogeny with southern African sequences.Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.Mutation screening in Rett syndrome patients.Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.Investigating the specific core genetic-and-epigenetic networks of cellular mechanisms involved in human aging in peripheral blood mononuclear cells.Progress in Rett Syndrome: from discovery to clinical trialsGlyT2-Dependent Preservation of MECP2-Expression in Inhibitory Neurons Improves Early Respiratory Symptoms but Does Not Rescue Survival in a Mouse Model of Rett Syndrome.Analysis of the Serotonergic System in a Mouse Model of Rett Syndrome Reveals Unusual Upregulation of Serotonin Receptor 5bEvaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype.
P2860
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P2860
High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
High male:female ratio of germ ...... n X-linked dominant disorders.
@ast
High male:female ratio of germ ...... n X-linked dominant disorders.
@en
type
label
High male:female ratio of germ ...... n X-linked dominant disorders.
@ast
High male:female ratio of germ ...... n X-linked dominant disorders.
@en
prefLabel
High male:female ratio of germ ...... n X-linked dominant disorders.
@ast
High male:female ratio of germ ...... n X-linked dominant disorders.
@en
P2860
P1476
High male:female ratio of germ ...... n X-linked dominant disorders.
@en
P2093
G H Thomas
P2860
P304
P407
P577
1996-06-01T00:00:00Z