Literature DB >> 10991688

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

K Obata, T Matsuishi, Y Yamashita, T Fukuda, K Kuwajima, I Horiuchi, S Nagamitsu, R Iwanaga, A Kimura, I Omori, S Endo, K Mori, I Kondo.   

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Year:  2000        PMID： 10991688      PMCID： PMC1734655          DOI： 10.1136/jmg.37.8.608

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

1.  MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

Authors:  R Trappe; F Laccone; J Cobilanschi; M Meins; P Huppke; F Hanefeld; W Engel
Journal:  Am J Hum Genet       Date:  2001-04-17       Impact factor: 11.025

2.  Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

Authors:  Hayley Archer; Julie Evans; Helen Leonard; Lyn Colvin; David Ravine; John Christodoulou; Sarah Williamson; Tony Charman; Mark E S Bailey; Julian Sampson; Nicholas de Klerk; Angus Clarke
Journal:  J Med Genet       Date:  2006-08-11       Impact factor: 6.318

Review 3.  Rett syndrome: a complex disorder with simple roots.

Authors:  Matthew J Lyst; Adrian Bird
Journal:  Nat Rev Genet       Date:  2015-03-03       Impact factor: 53.242

4.  Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.

Authors:  S Kudo; Y Nomura; M Segawa; N Fujita; M Nakao; C Schanen; M Tamura
Journal:  J Med Genet       Date:  2003-07       Impact factor: 6.318

5.  Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.

Authors:  Dhanjit Kumar Das; Vrajesh Udani; Daksha Sanghavi; Rashmi Adhia; Anurupa Maitra
Journal:  J Clin Lab Anal       Date:  2013-02-11       Impact factor: 2.352

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

Authors:  I M Buyse; P Fang; K T Hoon; R E Amir; H Y Zoghbi; B B Roa
Journal:  Am J Hum Genet       Date:  2000-10-30       Impact factor: 11.043

7.  Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.

Authors:  Jafar Nasiri; Mansoor Salehi; Majid Hosseinzadeh; Mahdi Zamani; Shirin Fattahpour; Omid Aryani; Esmat Fazel Najafabadi; Maryam Jabarzadeh; Sara Asadi; Tahereh Gholamrezapour; Maryam Sedghi; Fatemeh Ghorbani
Journal:  Iran J Child Neurol       Date:  2019

8.  Clinical Feature and Genetics in Rett Syndrome: A Report on Iranian Patients.

Authors:  Parvaneh Karimzadeh; Majid Kheirollahi; Seyed Massoud Houshmand; Sepideh Dadgar; Omid Aryani; Omid Yaghini
Journal:  Iran J Child Neurol       Date:  2019
  8 in total

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