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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 30, 2023. (Total: 223474Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Mental Retardation and CDKL5[original query]
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
Journal of medical genetics 2006 Sep 43 (9): 729-34.
Archer H L, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Journal of medical genetics 2010 Mar 47 (3): 211-6.
Hynes Kim, Tarpey Patrick, Dibbens Leanne M, Bayly Marta A, Berkovic Samuel F, Smith Raffaella, Raisi Zahyia Al, Turner Samantha J, Brown Natasha J, Desai Tarishi D, Haan Eric, Turner Gillian, Christodoulou John, Leonard Helen, Gill Deepak, Stratton Michael R, Gecz Jozef, Scheffer Ingrid
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
Neurogenetics 2010 May 11 (2): 241-9.
Bahi-Buisson Nadia, Nectoux Juliette, Girard Benoit, Van Esch Hilde, De Ravel Thomy, Boddaert Nathalie, Plouin Perrine, Rio Marlene, Fichou Yann, Chelly Jamel, Bienvenu Thier
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Human mutation 2010 Jun 31 (6): 722-33.
Zweier Markus, Gregor Anne, Zweier Christiane, Engels Hartmut, Sticht Heinrich, Wohlleber Eva, Bijlsma Emilia K, Holder Susan E, Zenker Martin, Rossier Eva, Grasshoff Ute, Johnson Diana S, Robertson Lisa, Firth Helen V, , Ekici Arif B, Reis André, Rauch Ani
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