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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Among authors: tejada mi. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF. Franken GAC, et al. Among authors: tejada mi. Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33600043 Free PMC article.
Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.
Beristain E, Martínez-Bouzas C, Guerra I, Viguera N, Moreno J, Ibañez E, Díez J, Rodríguez F, Mallabiabarrena G, Luján S, Gorostiaga J, De Pablo JL, Mendizabal JL, Tejada MI. Beristain E, et al. Among authors: tejada mi. Breast Cancer Res Treat. 2007 Dec;106(2):255-62. doi: 10.1007/s10549-006-9489-0. Epub 2007 Jan 30. Breast Cancer Res Treat. 2007. PMID: 17262179
Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci.
Rosa-Rosa JM, Pita G, Urioste M, Llort G, Brunet J, Lázaro C, Blanco I, Ramón y Cajal T, Díez O, de la Hoya M, Caldés T, Tejada MI, González-Neira A, Benítez J. Rosa-Rosa JM, et al. Among authors: tejada mi. Am J Hum Genet. 2009 Feb;84(2):115-22. doi: 10.1016/j.ajhg.2008.12.013. Epub 2009 Jan 15. Am J Hum Genet. 2009. PMID: 19147119 Free PMC article.
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA. Bijlsma EK, et al. Among authors: tejada mi. Eur J Med Genet. 2012 Jun;55(6-7):404-13. doi: 10.1016/j.ejmg.2012.02.009. Epub 2012 Mar 29. Eur J Med Genet. 2012. PMID: 22522176 Free PMC article.
75 results