(Q48353057)

10 February 2018

title

DHPLC analysis of the MECP2 gene in Italian Rett patients. (English)

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10

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Massimo Carella

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M Carella

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author name string

P Nicolao

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B Giometto

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B Tavolato

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R Cattin

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M L Giovannucci-Uzielli

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M Vacca

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F Della Regione

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S Piva

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P Gasparini

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publication date

1 August 2001

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10 February 2018

published in

Human Mutation

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volume

18

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page(s)

132-140

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issue

2

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

cites work

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Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

21 January 2018

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MECP2 mutations account for most cases of typical forms of Rett syndrome.

21 January 2018

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Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms

21 January 2018

1 reference

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

21 January 2018

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21 January 2018

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A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

21 January 2018

1 reference

Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

1 reference

Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.

21 January 2018

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A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

21 January 2018

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Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

21 January 2018

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Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

21 January 2018

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Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

21 January 2018

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Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

21 January 2018

1 reference

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

21 January 2018

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Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

21 January 2018

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MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

21 January 2018

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Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

21 January 2018

1 reference

Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

21 January 2018

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Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions

21 January 2018

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A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

21 January 2018

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A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

21 January 2018

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Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

21 January 2018

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Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

21 January 2018

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Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

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Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28

21 January 2018

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Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq

21 January 2018

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Mutation screening in Rett syndrome patients.

21 January 2018

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Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

21 January 2018

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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

21 January 2018

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Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system

21 January 2018

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Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

21 January 2018

1 reference

Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group

21 January 2018

1 reference

Rett's syndrome in the west of Scotland

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.1162

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10 February 2018

PubMed ID

11462237

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10 February 2018