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Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models.
Mínguez M, Ibáñez B, Ribate MP, Ramos F, García-Alegría E, Fernández-Rivas A, Ruiz-Parra E, Poch M, Alonso A, Martinez-Bouzas C, Beristain E, Tejada MI. Mínguez M, et al. Among authors: tejada mi. Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 5;150B(2):262-70. doi: 10.1002/ajmg.b.30803. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18563710
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.
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.
Villate O, Ibarluzea N, Fraile-Bethencourt E, Valenzuela A, Velasco EA, Grozeva D, Raymond FL, Botella MP, Tejada MI. Villate O, et al. Among authors: tejada mi. Front Genet. 2018 Jan 26;9:7. doi: 10.3389/fgene.2018.00007. eCollection 2018. Front Genet. 2018. PMID: 29434620 Free PMC article.
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.
Aguilera-Albesa S, de la Hoz AB, Ibarluzea N, Ordóñez-Castillo AR, Busto-Crespo O, Villate O, Ibiricu-Yanguas MA, Yoldi-Petri ME, García de Gurtubay I, Perez de Nanclares G, Pereda A, Tejada MI. Aguilera-Albesa S, et al. Among authors: tejada mi. Front Neurol. 2020 Feb 14;11:41. doi: 10.3389/fneur.2020.00041. eCollection 2020. Front Neurol. 2020. PMID: 32117010 Free PMC article.
75 results