Literature DB >> 11706982

Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.

J Armstrong, M Pineda, E Aibar, E Geán, E Monrós.   

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Year:  2001        PMID： 11706982     DOI： 10.1002/ana.1272

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  11 in total

Review 1.  Rett syndrome and MeCP2: linking epigenetics and neuronal function.

Authors:  Mona D Shahbazian; Huda Y Zoghbi
Journal:  Am J Hum Genet       Date:  2002-11-19       Impact factor: 11.025

Review 2.  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

Review 3.  Mouse models of neurodevelopmental disease of the basal ganglia and associated circuits.

Authors:  Samuel S Pappas; Daniel K Leventhal; Roger L Albin; William T Dauer
Journal:  Curr Top Dev Biol       Date:  2014       Impact factor: 4.897

Review 4.  MECP2 mutations in males.

Authors:  Laurent Villard
Journal:  J Med Genet       Date:  2007-03-09       Impact factor: 6.318

5.  Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.

Authors:  S Kudo; Y Nomura; M Segawa; N Fujita; M Nakao; C Schanen; M Tamura
Journal:  J Med Genet       Date:  2003-07       Impact factor: 6.318

6.  MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.

Authors:  Violaine Bourdon; Christophe Philippe; Dominique Martin; Alain Verloès; Agnès Grandemenge; Philippe Jonveaux
Journal:  Mol Diagn       Date:  2003

Review 7.  Hypothesis: somatic mosaicism and Parkinson disease.

Authors:  Han-Joon Kim; Beom S Jeon
Journal:  Exp Neurobiol       Date:  2014-12-12       Impact factor: 3.261

8.  An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation.

Authors:  Jin A Yoon; Yongjin Yoo; Je Sang Lee; Young Mi Kim; Yong Beom Shin
Journal:  Mol Genet Genomic Med       Date:  2018-12-19       Impact factor: 2.183

9.  Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.

Authors:  Qingping Zhang; Xiaoxu Yang; Jiaping Wang; Jiarui Li; Qixi Wu; Yongxin Wen; Ying Zhao; Xiaoying Zhang; He Yao; Xiru Wu; Shujie Yu; Liping Wei; Xinhua Bao
Journal:  Genet Med       Date:  2018-11-08       Impact factor: 8.822

Review 10.  The relationship of Rett syndrome and MECP2 disorders to autism.

Authors:  Jeffrey Lorenz Neul
Journal:  Dialogues Clin Neurosci       Date:  2012-09       Impact factor: 5.986
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