Literature DB >> 21590509

Novel clinical finding in MECP2 duplication syndrome.

Magdalena Budisteanu, Sorina Mihaela Papuc, Andreea Tutulan-Cunita, Bogdan Budisteanu, Aurora Arghir.   

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Year:  2011        PMID： 21590509     DOI： 10.1007/s00787-011-0184-2

Source DB:  PubMed          Journal:  Eur Child Adolesc Psychiatry        ISSN： 1018-8827            Impact factor:   4.785


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  15 in total

1.  Detection of large-scale variation in the human genome.

Authors:  A John Iafrate; Lars Feuk; Miguel N Rivera; Marc L Listewnik; Patricia K Donahoe; Ying Qi; Stephen W Scherer; Charles Lee
Journal:  Nat Genet       Date:  2004-08-01       Impact factor: 38.330

2.  Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.

Authors:  M Meins; J Lehmann; F Gerresheim; J Herchenbach; M Hagedorn; K Hameister; J T Epplen
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

Review 3.  X-linked mental retardation: many genes for a complex disorder.

Authors:  Hans-Hilger Ropers
Journal:  Curr Opin Genet Dev       Date:  2006-05-02       Impact factor: 5.578

4.  Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.

Authors:  M Smyk; E Obersztyn; B Nowakowska; M Nawara; S W Cheung; T Mazurczak; P Stankiewicz; E Bocian
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2008-09-05       Impact factor: 3.568

5.  High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Authors:  Tamim H Shaikh; Xiaowu Gai; Juan C Perin; Joseph T Glessner; Hongbo Xie; Kevin Murphy; Ryan O'Hara; Tracy Casalunovo; Laura K Conlin; Monica D'Arcy; Edward C Frackelton; Elizabeth A Geiger; Chad Haldeman-Englert; Marcin Imielinski; Cecilia E Kim; Livija Medne; Kiran Annaiah; Jonathan P Bradfield; Elvira Dabaghyan; Andrew Eckert; Chioma C Onyiah; Svetlana Ostapenko; F George Otieno; Erin Santa; Julie L Shaner; Robert Skraban; Ryan M Smith; Josephine Elia; Elizabeth Goldmuntz; Nancy B Spinner; Elaine H Zackai; Rosetta M Chiavacci; Robert Grundmeier; Eric F Rappaport; Struan F A Grant; Peter S White; Hakon Hakonarson
Journal:  Genome Res       Date:  2009-07-10       Impact factor: 9.043

6.  Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Authors:  Hilde Van Esch; Marijke Bauters; Jaakko Ignatius; Mieke Jansen; Martine Raynaud; Karen Hollanders; Dorien Lugtenberg; Thierry Bienvenu; Lars Riff Jensen; Jozef Gecz; Claude Moraine; Peter Marynen; Jean-Pierre Fryns; Guy Froyen
Journal:  Am J Hum Genet       Date:  2005-07-29       Impact factor: 11.025

7.  Neurologic aspects of MECP2 gene duplication in male patients.

Authors:  Bernard Echenne; Agathe Roubertie; Dorien Lugtenberg; Titske Kleefstra; Ben C J Hamel; Hans Van Bokhoven; Didier Lacombe; Christophe Philippe; Philippe Jonveaux; Arjan P M de Brouwer
Journal:  Pediatr Neurol       Date:  2009-09       Impact factor: 3.372

8.  Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

Authors:  Michael J Friez; Julie R Jones; Katie Clarkson; Herbert Lubs; Dianne Abuelo; Jo-Ann Blaymore Bier; Shashidhar Pai; Richard Simensen; Charles Williams; Philip F Giampietro; Charles E Schwartz; Roger E Stevenson
Journal:  Pediatrics       Date:  2006-11-06       Impact factor: 7.124

9.  Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection.

Authors:  Trine E Prescott; Olaug K Rødningen; Alf Bjørnstad; Asbjørg Stray-Pedersen
Journal:  Clin Dysmorphol       Date:  2009-04       Impact factor: 0.816

10.  The UCSC Genome Browser database: update 2010.

Authors:  Brooke Rhead; Donna Karolchik; Robert M Kuhn; Angie S Hinrichs; Ann S Zweig; Pauline A Fujita; Mark Diekhans; Kayla E Smith; Kate R Rosenbloom; Brian J Raney; Andy Pohl; Michael Pheasant; Laurence R Meyer; Katrina Learned; Fan Hsu; Jennifer Hillman-Jackson; Rachel A Harte; Belinda Giardine; Timothy R Dreszer; Hiram Clawson; Galt P Barber; David Haussler; W James Kent
Journal:  Nucleic Acids Res       Date:  2009-11-11       Impact factor: 16.971
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  8 in total

Review 1.  The impact of MeCP2 loss- or gain-of-function on synaptic plasticity.

Authors:  Elisa S Na; Erika D Nelson; Ege T Kavalali; Lisa M Monteggia
Journal:  Neuropsychopharmacology       Date:  2012-07-11       Impact factor: 7.853

2.  Supporting researchers: mentoring and awards of the Journal.

Authors:  Aribert Rothenberger
Journal:  Eur Child Adolesc Psychiatry       Date:  2011-07       Impact factor: 4.785

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
  8 in total

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