Literature DB >> 20503343

MECP2 duplication in a patient with congenital central hypoventilation.

Elga F Belligni1, Rodger W Palmer, Raoul C M Hennekam.   

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Year:  2010        PMID： 20503343     DOI： 10.1002/ajmg.a.33311

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  12 in total

1.  MECP2 Duplication Syndrome.

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

2.  PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.

Authors:  Min-Jung Kwon; Gi-Hyuck Lee; Myoung-Keun Lee; Ji-Youn Kim; Hye Soo Yoo; Chang-Seok Ki; Yun Sil Chang; Jong-Won Kim; Won Soon Park
Journal:  Eur J Pediatr       Date:  2011-03-04       Impact factor: 3.183

3.  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

4.  Infectious and immunologic phenotype of MECP2 duplication syndrome.

Authors:  Michael Bauer; Uwe Kölsch; Renate Krüger; Nadine Unterwalder; Karin Hameister; Fabian Marc Kaiser; Aglaia Vignoli; Rainer Rossi; Maria Pilar Botella; Magdalena Budisteanu; Monica Rosello; Carmen Orellana; Maria Isabel Tejada; Sorina Mihaela Papuc; Oliver Patat; Sophie Julia; Renaud Touraine; Thusari Gomes; Kirsten Wenner; Xiu Xu; Alexandra Afenjar; Annick Toutain; Nicole Philip; Aleksandra Jezela-Stanek; Ludwig Gortner; Francisco Martinez; Bernard Echenne; Volker Wahn; Christian Meisel; Dagmar Wieczorek; Salima El-Chehadeh; Hilde Van Esch; Horst von Bernuth
Journal:  J Clin Immunol       Date:  2015-02-27       Impact factor: 8.317

Review 5.  A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.

Authors:  Daniel Ta; Jenny Downs; Gareth Baynam; Andrew Wilson; Peter Richmond; Helen Leonard
Journal:  Orphanet J Rare Dis       Date:  2022-03-21       Impact factor: 4.123

6.  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

7.  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

8.  MECP2 duplication syndrome in a Chinese family.

Authors:  Qingping Zhang; Ying Zhao; Yanling Yang; Xinhua Bao
Journal:  BMC Med Genet       Date:  2015-12-16       Impact factor: 2.103

9.  Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Authors:  Mark N Ziats; Ayesha Ahmad; John A Bernat; Rachel Fisher; Megan Glassford; Mark C Hannibal; Joseph E Jacher; Natasha Weiser; Catherine E Keegan; Kristen N Lee; Tessa B Marzulla; Bridget C O'Connor; Shane C Quinonez; Lauren Seemann; Lauren Turner; Stephanie Bielas; Nicholas L Harris; Jacob D Ogle; Jeffrey W Innis; Donna M Martin
Journal:  Pediatr Res       Date:  2019-10-16       Impact factor: 3.756

Review 10.  Genetic Factors Underlying Sudden Infant Death Syndrome.

Authors:  Christine Keywan; Annapurna H Poduri; Richard D Goldstein; Ingrid A Holm
Journal:  Appl Clin Genet       Date:  2021-02-15
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