(Q43674538)

25 November 2017

title

Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region (English)

1 reference

25 November 2017

0 references

Lebo RV

1

1 reference

25 November 2017

Ikuta T

series ordinal

2

1 reference

25 November 2017

Milunsky JM

series ordinal

3

1 reference

25 November 2017

Milunsky A

series ordinal

4

1 reference

25 November 2017

publication date

1 June 2001

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25 November 2017

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25 November 2017

volume

59

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25 November 2017

issue

6

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25 November 2017

page(s)

406-417

1 reference

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

25 November 2017

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

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

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

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Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization

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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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

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

21 January 2018

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Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

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

21 January 2018

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Rett syndrome: a surprising result of mutation in MECP2.

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

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Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Preimplantation diagnosis of the beta1 integrin knockout mutation as a model for aneuploid gene testing

21 January 2018

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Microsatellite scoring errors associated with noninvasive genotyping based on nuclear DNA amplified from shed hair

21 January 2018

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The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA.

21 January 2018

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21 January 2018

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

21 January 2018

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Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

21 January 2018

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Preserved speech variant is allelic of classic Rett syndrome

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

21 January 2018

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Primers for a PCR-Based Approach to Mitochondrial Genome Sequencing in Birds and Other Vertebrates

21 January 2018

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High-resolution HLA typing for the DQB1 gene by sequence-based typing

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Strategy for controlling preferential amplification and avoiding false negatives in PCR typing

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590605.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Evolution of the hemoglobin S and C genes in world populations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590605.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.2001.590605.X

1 reference

25 November 2017

1 reference