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Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
Sáez MA, Fernández-Rodríguez J, Moutinho C, Sanchez-Mut JV, Gomez A, Vidal E, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caridad OJ, Huertas D, Gelpí JL, Orozco M, López-Doriga A, Milà M, Perez-Jurado LA, Pineda M, Armstrong J, Lázaro C, Esteller M. Sáez MA, et al. Among authors: armstrong j. Genet Med. 2016 Apr;18(4):378-85. doi: 10.1038/gim.2015.100. Epub 2015 Jul 16. Genet Med. 2016. PMID: 26181491 Free PMC article.
Prenatal diagnosis in Rett syndrome.
Armstrong J, Aibar E, Pineda M, Pérez MM, Geán E, Carrera M, Casas C, Martínez F, Monrós E. Armstrong J, et al. Fetal Diagn Ther. 2002 Jul-Aug;17(4):200-4. doi: 10.1159/000059370. Fetal Diagn Ther. 2002. PMID: 12065946
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. Mencarelli MA, et al. Among authors: armstrong j. J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2. J Med Genet. 2010. PMID: 19578037
Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Roche-Martinez A, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A. Grillo E, et al. Among authors: armstrong j. Hum Mutat. 2012 Jul;33(7):1031-6. doi: 10.1002/humu.22072. Epub 2012 Apr 13. Hum Mutat. 2012. PMID: 22415763 Free article.
2,615 results