A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the 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 TrialsThe Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and TreatmentStem cells and modeling of autism spectrum disorders.Neuropathology of Rett syndrome.Variable phenotypic expression of a MECP2 mutation in a family.The Crucial Role of DNA Methylation and MeCP2 in Neuronal FunctionPrenatal diagnosis of ornithine transcarbamylase deficiency.Molecular approaches to the Rett syndrome gene.Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspotsTranscriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain.Genetic basis of Rett syndrome.The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.MECP2 abnormality phenotypes: clinicopathologic area with broad variability.Does genotype predict phenotype in Rett syndrome?MECP2 mutations in males.A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndromeProgress in Rett Syndrome: from discovery to clinical trialsAlgorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities.2012 William Allan Award: Adventures in cytogenetics.Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome.Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children.DHPLC analysis of the MECP2 gene in Italian Rett patients.Occurrence of Rett syndrome in boys.MECP2 mutation in male patients with non-specific X-linked mental retardation.Rett Syndrome: Coming to Terms with Treatment
P2860
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P2860
A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
A severely affected male born ...... xtension of the exclusion map.
@en
A severely affected male born ...... xtension of the exclusion map.
@nl
type
label
A severely affected male born ...... xtension of the exclusion map.
@en
A severely affected male born ...... xtension of the exclusion map.
@nl
prefLabel
A severely affected male born ...... xtension of the exclusion map.
@en
A severely affected male born ...... xtension of the exclusion map.
@nl
P356
P1476
A severely affected male born ...... xtension of the exclusion map.
@en
P2093
P304
P356
10.1086/301932
P407
P577
1998-07-01T00:00:00Z