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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: mila m. 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.
Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.
Madrigal I, Xunclà M, Tejada MI, Martínez F, Fernández-Carvajal I, Pérez-Jurado LA, Rodriguez-Revenga L, Milà M. Madrigal I, et al. Among authors: mila m. Eur J Hum Genet. 2011 Aug;19(8):921-3. doi: 10.1038/ejhg.2011.41. Epub 2011 Mar 23. Eur J Hum Genet. 2011. PMID: 21427756 Free PMC article.
Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.
Tejada MI, Glover G, Martínez F, Guitart M, de Diego-Otero Y, Fernández-Carvajal I, Ramos FJ, Hernández-Chico C, Pintado E, Rosell J, Calvo MT, Ayuso C, Ramos-Arroyo MA, Maortua H, Milà M. Tejada MI, et al. Among authors: mila m. Biomed Res Int. 2014;2014:195793. doi: 10.1155/2014/195793. Epub 2014 May 28. Biomed Res Int. 2014. PMID: 24987673 Free PMC article.
Clinical implication of FMR1 intermediate alleles in a Spanish population.
Alvarez-Mora MI, Madrigal I, Martinez F, Tejada MI, Izquierdo-Alvarez S, Sanchez-Villar de Saz P, Caro-Llopis A, Villate O, Rodríguez-Santiago B, Pérez Jurado LA, Rodriguez-Revenga L, Milà M. Alvarez-Mora MI, et al. Among authors: mila m. Clin Genet. 2018 Jul;94(1):153-158. doi: 10.1111/cge.13257. Clin Genet. 2018. PMID: 29604051
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
Torrico B, Fernàndez-Castillo N, Hervás A, Milà M, Salgado M, Rueda I, Buitelaar JK, Rommelse N, Oerlemans AM, Bralten J, Freitag CM, Reif A, Battaglia A, Mazzone L, Maestrini E, Cormand B, Toma C. Torrico B, et al. Among authors: mila m. Eur J Hum Genet. 2015 Dec;23(12):1694-701. doi: 10.1038/ejhg.2015.37. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782667 Free PMC article.
189 results