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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Ataxia and MECP2[original query]
[Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome].
No to hattatsu. Brain and development 2002 May 34 (3): 219-23.
Kondo Ikuko, Yamagata Hidehi
Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.
Movement disorders : official journal of the Movement Disorder Society 2008 Jul 23 (10): 1384-90.
Temudo Teresa, Ramos Elisabete, Dias Karin, Barbot Clara, Vieira Jose P, Moreira Ana, Calado Eulalia, Carrilho Ines, Oliveira Guiomar, Levy Antonio, Fonseca Maria, Cabral Alexandra, Cabral Pedro, Monteiro Joao P, Borges Luis, Gomes Roseli, Santos Manuela, Sequeiros Jorge, Maciel Patric
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
European journal of human genetics : EJHG 2009 Apr 17 (4): 444-53.
Lugtenberg Dorien, Kleefstra Tjitske, Oudakker Astrid R, Nillesen Willy M, Yntema Helger G, Tzschach Andreas, Raynaud Martine, Rating Dietz, Journel Hubert, Chelly Jamel, Goizet Cyril, Lacombe Didier, Pedespan Jean-Michel, Echenne Bernard, Tariverdian Gholamali, O'Rourke Declan, King Mary D, Green Andrew, van Kogelenberg Margriet, Van Esch Hilde, Gecz Jozef, Hamel Ben C J, van Bokhoven Hans, de Brouwer Arjan P
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
Brain & development 2011 Jan 33 (1): 69-76.
Temudo Teresa, Santos Mónica, Ramos Elisabete, Dias Karin, Vieira José Pedro, Moreira Ana, Calado Eulália, Carrilho Inês, Oliveira Guiomar, Levy António, Barbot Clara, Fonseca Maria, Cabral Alexandra, Cabral Pedro, Monteiro José, Borges Luís, Gomes Roseli, Mira Graça, Pereira Susana Aires, Santos Manuela, Fernandes Anabela, Epplen Jorg T, Sequeiros Jorge, Maciel Patríc
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