Molecular diagnostic dilemmas in Rett syndrome-Reference-Cited by-同舟云学术

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Molecular diagnostic dilemmas in Rett syndrome

Published:2012-10 Issue:9 Volume:34 Page:750-755
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Zvereff Val,Carpenter Lori,Patton Dagny,Cabral Huong,Rita Debra,Wilson Ashley,Anyane-Yeboa Kwame,White Larry,Friedman Kenneth J.

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference29 articles.

1. Rett syndrome: new clinical and molecular insights;Williamson;Eur J Hum Genet,2006

2. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots;Wan;Am J Hum Genet,1999

3. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nature Genet,1999

4. Methyl-CpG-binding protein 2 mutations in Rett syndrome;Van den Veyver;Cur Opin Genet Dev,2000

5. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome;Amano;J Hum Genet,2000

Cited by 4 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. Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients;Clinical Laboratory;2022

2. Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia;Frontiers in Genetics;2020-05-08

3. TheMECP2variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome;Clinical Genetics;2016-04-08

4. MECP2 Gene Study in a Large Cohort;The Journal of Molecular Diagnostics;2013-09

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