Spectrum of MECP2 Mutations in Rett Syndrome-Reference-Cited by-同舟云学术

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Spectrum of MECP2 Mutations in Rett Syndrome

Published:2002-03 Issue:1 Volume:6 Page:1-6
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Bienvenu Thierry¹,Villard Laurent²,De Roux Nicolas³,Bourdon Violaine⁴,Fontes Michel²,Beldjord Cherif¹,Tardieu Marc⁵,Jonveaux Philippe⁴,Chelly Jamel¹

Affiliation:

1. INSERM U129-ICGM, Faculté de Médecine Cochin, 75014 Paris, France

2. INSERM U491, Faculté de la Timone, 13358 Marseille Cedex, France

3. Laboratoire d'Hormonologie et de Biologie Moléculaire, CHU Bicêtre, 94275 Le Kremlin Bicêtre, France

4. Laboratoire de Génétique, Hôpitaux de Brabois, 54511 Vandoeuvre Les Nancy, France

5. Département de Pédiatrie, Service de Neurologie, CHU Bicêtre, 94275 Le Kremlin Bicêtre, France

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/109065702760093843

Reference23 articles.

1. Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

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

3. Mutation heterogeneity of cystic fibrosis in France: Screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide

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

5. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration;Scientific Data;2021-01-15

2. A Novel Methyl-CpG Binding Protein 2 (MECP2) Variant in an Indian Girl with Rett Syndrome;JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH;2021

3. Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease;International Journal of Molecular Sciences;2020-01-14

4. Pathologies Susceptible to be Targeted for Nonsense Mutation Therapies;Nonsense Mutation Correction in Human Diseases;2016

5. Rett Syndrome: Coming to Terms with Treatment;Advances in Neuroscience;2014-04-10

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