MECP2 Gene Study in a Large Cohort-Reference-Cited by-同舟云学术

MECP2 Gene Study in a Large Cohort

Published:2013-09 Issue:5 Volume:15 Page:723-729
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Maortua Hiart,Martínez-Bouzas Cristina,García-Ribes Ainhoa,Martínez María-Jesus,Guillen Encarna,Domingo María-Rosario,Calvo María-Teresa,Guitart Miriam,Gabau Elisabeth,Botella María-Pilar,Gener Blanca,Rubio Izaskun,López-Aríztegui María-Asunción,Tejada María-Isabel

Funder

Health Department of the Government of the Basque Country

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference56 articles.

1. The role of MeCP2 in brain development and neurodevelopmental disorders;Gonzales;Curr Psychiatry Rep,2010

2. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome;Ramocki;Ann Neurol,2009

3. The major form of MeCP2 has a novel N-terminus generated by alternative splicing;Kriaucionis;Nucleic Acids Res,2004

4. The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform;Fichou;Neurogenetics,2009

5. Rett syndrome: from the gene to the disease;Matijevic;Eur Neurol,2009

Cited by 5 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. Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders—Implications for Individuals with Rett Syndrome: A Systematic Review;International Journal of Molecular Sciences;2023-05-19

2. Circulating 4-F4t-Neuroprostane and 10-F4t-Neuroprostane Are Related to MECP2 Gene Mutation and Natural History in Rett Syndrome;International Journal of Molecular Sciences;2021-04-19

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

4. Non‐syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies;Clinical Genetics;2020-01-09

5. 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