Literature DB >> 12161600

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

F Laccone, B Zoll, P Huppke, F Hanefeld, W Pepinski, R Trappe.   

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Year:  2002        PMID: 12161600      PMCID: PMC1735194          DOI: 10.1136/jmg.39.8.586

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


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  6 in total

Review 1.  MECP2 mutations in males.

Authors:  Laurent Villard
Journal:  J Med Genet       Date:  2007-03-09       Impact factor: 6.318

2.  A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome.

Authors:  Jan P Buschdorf; Wolf H Strätling
Journal:  J Mol Med (Berl)       Date:  2003-11-15       Impact factor: 4.599

3.  MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.

Authors:  Violaine Bourdon; Christophe Philippe; Dominique Martin; Alain Verloès; Agnès Grandemenge; Philippe Jonveaux
Journal:  Mol Diagn       Date:  2003

4.  Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia.

Authors:  Chia-Hsiang Chen; Min-Chih Cheng; Ailing Huang; Tsung-Ming Hu; Lieh-Yung Ping; Yu-Syuan Chang
Journal:  Front Genet       Date:  2020-05-08       Impact factor: 4.599

Review 5.  Rett syndrome: the complex nature of a monogenic disease.

Authors:  Alessandra Renieri; Ilaria Meloni; Ilaria Longo; Francesca Ariani; Francesca Mari; Chiara Pescucci; Franca Cambi
Journal:  J Mol Med (Berl)       Date:  2003-05-16       Impact factor: 4.599

6.  MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.

Authors:  Laura Bianciardi; Marco Fichera; Pinella Failla; Chiara Di Marco; Detelina Grozeva; Maria Antonietta Mencarelli; Ottavia Spiga; Francesca Mari; Ilaria Meloni; Lucy Raymond; Alessandra Renieri; Corrado Romano; Francesca Ariani
Journal:  J Hum Genet       Date:  2015-10-22       Impact factor: 3.172

  6 in total

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