Literature DB >> 19018795

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.

E P Kirk, V Malaty-Brevaud, N Martini, C Lacoste, N Levy, K Maclean, L Davies, N Philip, C Badens.   

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Year:  2008        PMID： 19018795     DOI： 10.1111/j.1399-0004.2008.01102.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  13 in total

1.  MECP2 Duplication Syndrome.

Authors:  H Van Esch
Journal:  Mol Syndromol       Date:  2011-07-05

2.  NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Authors:  Orianne Philippe; Marlène Rio; Valérie Malan; Hilde Van Esch; Geneviève Baujat; Nadia Bahi-Buisson; Vassili Valayannopoulos; Roseline Gesny; Jean-Paul Bonnefont; Arnold Munnich; Guy Froyen; Jeanne Amiel; Nathalie Boddaert; Laurence Colleaux
Journal:  Eur J Hum Genet       Date:  2012-07-18       Impact factor: 4.246

3.  De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

Authors:  Nathalie Fieremans; Marijke Bauters; Stefanie Belet; Jelle Verbeeck; Anna C Jansen; Sara Seneca; Filip Roelens; Elfride De Baere; Peter Marynen; Guy Froyen
Journal:  Hum Genet       Date:  2014-07-19       Impact factor: 4.132

Review 4.  The MECP2 duplication syndrome.

Authors:  Melissa B Ramocki; Y Jane Tavyev; Sarika U Peters
Journal:  Am J Med Genet A       Date:  2010-05       Impact factor: 2.802

Review 5.  Genetics, molecular biology, and phenotypes of x-linked epilepsy.

Authors:  Hao Deng; Wen Zheng; Zhi Song
Journal:  Mol Neurobiol       Date:  2013-11-22       Impact factor: 5.590

6.  MECP2 duplications in six patients with complex sex chromosome rearrangements.

Authors:  Amy M Breman; Melissa B Ramocki; Sung-Hae L Kang; Misti Williams; Debra Freedenberg; Ankita Patel; Patricia I Bader; Sau Wai Cheung
Journal:  Eur J Hum Genet       Date:  2010-12-01       Impact factor: 4.246

7.  Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.

Authors:  E K Bijlsma; A Collins; F T Papa; M I Tejada; P Wheeler; E A J Peeters; A C J Gijsbers; J M van de Kamp; M Kriek; M Losekoot; A J Broekma; J A Crolla; M Pollazzon; M Mucciolo; E Katzaki; V Disciglio; M I Ferreri; A Marozza; M A Mencarelli; C Castagnini; L Dosa; F Ariani; F Mari; R Canitano; G Hayek; M P Botella; B Gener; M Mínguez; A Renieri; C A L Ruivenkamp
Journal:  Eur J Med Genet       Date:  2012-03-29       Impact factor: 2.708

8.  A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

Authors:  Neil A Hanchard; Claudia M B Carvalho; Patricia Bader; Aaron Thome; Lisa Omo-Griffith; Daniela del Gaudio; Davut Pehlivan; Ping Fang; Christian P Schaaf; Melissa B Ramocki; James R Lupski; Sau Wai Cheung
Journal:  BMC Med Genet       Date:  2012-08-10       Impact factor: 2.103

9.  A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.

Authors:  Xiu Xu; Qiong Xu; Ying Zhang; Xiaodi Zhang; Tianlin Cheng; Bingbing Wu; Yanhua Ding; Ping Lu; Jingjing Zheng; Min Zhang; Zilong Qiu; Xiang Yu
Journal:  BMC Med Genet       Date:  2012-08-21       Impact factor: 2.103

10.  MECP2 duplication phenotype in symptomatic females: report of three further cases.

Authors:  Francesca Novara; Alessandro Simonati; Federico Sicca; Roberta Battini; Simona Fiori; Annarita Contaldo; Lucia Criscuolo; Orsetta Zuffardi; Roberto Ciccone
Journal:  Mol Cytogenet       Date:  2014-01-28       Impact factor: 2.009
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