Literature DB >> 15689435

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

M Meins, J Lehmann, F Gerresheim, J Herchenbach, M Hagedorn, K Hameister, J T Epplen.   

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Year:  2005        PMID： 15689435      PMCID： PMC1735993          DOI： 10.1136/jmg.2004.023804

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


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  88 in total

1.  Clan genomics and the complex architecture of human disease.

Authors:  James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

2.  MECP2 Duplication Syndrome.

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

Review 3.  Brief report: systematic review of Rett syndrome in males.

Authors:  Brian Reichow; Annie George-Puskar; Tara Lutz; Isaac C Smith; Fred R Volkmar
Journal:  J Autism Dev Disord       Date:  2015-10

4.  Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome.

Authors:  Paolo Moretti; Jonathan M Levenson; Fortunato Battaglia; Richard Atkinson; Ryan Teague; Barbara Antalffy; Dawna Armstrong; Ottavio Arancio; J David Sweatt; Huda Y Zoghbi
Journal:  J Neurosci       Date:  2006-01-04       Impact factor: 6.167

5.  The yin and yang of MeCP2 phosphorylation.

Authors:  Hsiao-Tuan Chao; Huda Y Zoghbi
Journal:  Proc Natl Acad Sci U S A       Date:  2009-03-17       Impact factor: 11.205

6.  De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.

Authors:  Ute Grasshoff; Michael Bonin; Ina Goehring; Arif Ekici; Andreas Dufke; Kirsten Cremer; Nicholas Wagner; Eva Rossier; Anna Jauch; Michael Walter; Claudia Bauer; Peter Bauer; Karl Horber; Stefanie Beck-Woedl; Dagmar Wieczorek
Journal:  Eur J Hum Genet       Date:  2011-02-16       Impact factor: 4.246

7.  Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.

Authors:  William Reardon; Veronica Donoghue; Anne-Marie Murphy; Mary D King; Philip D Mayne; Nina Horn; Lisbeth Birk Møller
Journal:  Eur J Pediatr       Date:  2010-02-23       Impact factor: 3.183

Review 8.  Experimental models of Rett syndrome based on Mecp2 dysfunction.

Authors:  Gaston Calfa; Alan K Percy; Lucas Pozzo-Miller
Journal:  Exp Biol Med (Maywood)       Date:  2011-01

9.  Novel clinical finding in MECP2 duplication syndrome.

Authors:  Magdalena Budisteanu; Sorina Mihaela Papuc; Andreea Tutulan-Cunita; Bogdan Budisteanu; Aurora Arghir
Journal:  Eur Child Adolesc Psychiatry       Date:  2011-05-18       Impact factor: 4.785

10.  Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

Authors:  Dorien Lugtenberg; Tjitske Kleefstra; Astrid R Oudakker; Willy M Nillesen; Helger G Yntema; Andreas Tzschach; Martine Raynaud; Dietz Rating; Hubert Journel; Jamel Chelly; Cyril Goizet; Didier Lacombe; Jean-Michel Pedespan; Bernard Echenne; Gholamali Tariverdian; Declan O'Rourke; Mary D King; Andrew Green; Margriet van Kogelenberg; Hilde Van Esch; Jozef Gecz; Ben C J Hamel; Hans van Bokhoven; Arjan P M de Brouwer
Journal:  Eur J Hum Genet       Date:  2008-11-05       Impact factor: 4.246
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