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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.
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.
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
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
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82).
Tejada MI, Villate O, Ibarluzea N, de la Hoz AB, Martínez-Bouzas C, Beristain E, Martínez F, Friez MJ, Sobrino B, Barros F. Tejada MI, et al. Among authors: martinez f, martinez bouzas c. Front Genet. 2019 Oct 31;10:1074. doi: 10.3389/fgene.2019.01074. eCollection 2019. Front Genet. 2019. PMID: 31737052 Free PMC article.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Among authors: martinez f, martinez monseny af. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567
3,550 results