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Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.
Sánchez Delgado M, Camprubí C, Tümer Z, Martínez F, Milà M, Monk D. Sánchez Delgado M, et al. Among authors: martinez f. Am J Med Genet B Neuropsychiatr Genet. 2014 Sep;165B(6):472-8. doi: 10.1002/ajmg.b.32250. Epub 2014 Jul 1. Am J Med Genet B Neuropsychiatr Genet. 2014. PMID: 24980697
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: martinez f. 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: martinez f. 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: martinez f. Clin Genet. 2018 Jul;94(1):153-158. doi: 10.1111/cge.13257. Clin Genet. 2018. PMID: 29604051
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.
Madrigal I, Rodríguez-Revenga L, Armengol L, González E, Rodriguez B, Badenas C, Sánchez A, Martínez F, Guitart M, Fernández I, Arranz JA, Tejada M, Pérez-Jurado LA, Estivill X, Milà M. Madrigal I, et al. Among authors: martinez f. BMC Genomics. 2007 Nov 29;8:443. doi: 10.1186/1471-2164-8-443. BMC Genomics. 2007. PMID: 18047645 Free PMC article.
3,560 results