A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.
about
Rett syndrome and MeCP2: linking epigenetics and neuronal functionGene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutationsRett Syndrome: Reaching for Clinical TrialsSex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers.Variable phenotypic expression of a MECP2 mutation in a family.The Crucial Role of DNA Methylation and MeCP2 in Neuronal FunctionMolecular approaches to the Rett syndrome gene.De novo deletion in MECP2 in a monozygotic twin pair: a case reportRett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspotsGenetic basis of Rett syndrome.The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.MECP2 abnormality phenotypes: clinicopathologic area with broad variability.Does genotype predict phenotype in Rett syndrome?De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention.MECP2 mutations in males.Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations.Progress in Rett Syndrome: from discovery to clinical trialsMeCP2 and Rett syndrome: reversibility and potential avenues for therapy.Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities.Using genetic epidemiology to study Rett syndrome: the design of a case-control study.Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome.Mutation analysis of the M6b gene in patients with Rett syndrome.2012 William Allan Award: Adventures in cytogenetics.Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome.DHPLC analysis of the MECP2 gene in Italian Rett patients.General and oral characteristics in Rett syndrome.Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.Balanced X chromosome inactivation patterns in the Rett syndrome brain.Occurrence of Rett syndrome in boys.Distinct de novo deletions in a brother-sister pair with RTT: a case report.X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.Familial aggregation in Rett syndrome: what is the evidence for clustering of other disorders in families of affected girls?Reduced nerve growth factor in Rett syndrome postmortem brain tissue.Monozygotic twins with Rett syndrome: Phenotyping the first two years of life.Rett Syndrome.Rett Syndrome: Coming to Terms with Treatment
P2860
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P2860
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.
description
1997 nî lūn-bûn
@nan
1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի սեպտեմբերին 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 new Rett syndrome family con ...... he X chromosome exclusion map.
@ast
A new Rett syndrome family con ...... he X chromosome exclusion map.
@en
type
label
A new Rett syndrome family con ...... he X chromosome exclusion map.
@ast
A new Rett syndrome family con ...... he X chromosome exclusion map.
@en
prefLabel
A new Rett syndrome family con ...... he X chromosome exclusion map.
@ast
A new Rett syndrome family con ...... he X chromosome exclusion map.
@en
P2093
P2860
P356
P1476
A new Rett syndrome family con ...... he X chromosome exclusion map.
@en
P2093
P2860
P304
P356
10.1086/515525
P407
P50
P577
1997-09-01T00:00:00Z