Literature DB >> 15857422

Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.

K Ravn, J B Nielsen, M Schwartz.   

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Year:  2005        PMID： 15857422     DOI： 10.1111/j.1399-0004.2005.00444.x

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


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  11 in total

1.  Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

Authors:  A Saxena; D de Lagarde; H Leonard; S L Williamson; V Vasudevan; J Christodoulou; E Thompson; P MacLeod; D Ravine
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

Review 2.  Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission.

Authors:  Lisa M Monteggia; Ege T Kavalali
Journal:  Biol Psychiatry       Date:  2008-12-05       Impact factor: 13.382

Review 3.  Rett syndrome and MeCP2.

Authors:  Vichithra R B Liyanage; Mojgan Rastegar
Journal:  Neuromolecular Med       Date:  2014-03-11       Impact factor: 3.843

4.  Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes.

Authors:  Bredford Kerr; Jessica Soto C; Mauricio Saez; Alexander Abrams; Katherina Walz; Juan I Young
Journal:  Eur J Hum Genet       Date:  2011-08-10       Impact factor: 4.246

5.  MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

Authors:  Mei-Rong Li; Hong Pan; Xin-Hua Bao; Yu-Zhi Zhang; Xi-Ru Wu
Journal:  J Hum Genet       Date:  2006-11-07       Impact factor: 3.172

6.  The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.

Authors:  Yann Fichou; Juliette Nectoux; Nadia Bahi-Buisson; Haydeé Rosas-Vargas; Benoit Girard; Jamel Chelly; Thierry Bienvenu
Journal:  Neurogenetics       Date:  2008-11-26       Impact factor: 2.660

7.  De novo deletion in MECP2 in a monozygotic twin pair: a case report.

Authors:  Kirti Mittal; Madhulika Kabra; Ramesh Juyal; Thelma BK
Journal:  BMC Med Genet       Date:  2011-08-27       Impact factor: 2.103

Review 8.  Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

Authors:  Kirstine Ravn; Gitte Roende; Morten Duno; Kathrine Fuglsang; Kristin L Eiklid; Zeynep Tümer; Jytte B Nielsen; Ola H Skjeldal
Journal:  Orphanet J Rare Dis       Date:  2011-08-30       Impact factor: 4.123

9.  Role of MeCP2, DNA methylation, and HDACs in regulating synapse function.

Authors:  Ege T Kavalali; Erika D Nelson; Lisa M Monteggia
Journal:  J Neurodev Disord       Date:  2011-03-02       Impact factor: 4.025

10.  A thorough MECP2 mutation analysis.

Authors:  K Ravn; J B Nielsen
Journal:  Clin Genet       Date:  2008-10-24       Impact factor: 4.438
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