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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: alvarez mora mi. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
High apolipoprotein E4 allele frequency in FXTAS patients.
Silva F, Rodriguez-Revenga L, Madrigal I, Alvarez-Mora MI, Oliva R, Milà M. Silva F, et al. Genet Med. 2013 Aug;15(8):639-42. doi: 10.1038/gim.2013.12. Epub 2013 Mar 14. Genet Med. 2013. PMID: 23492875 Free article.
Paternal transmission of a FMR1 full mutation allele.
Alvarez-Mora MI, Guitart M, Rodriguez-Revenga L, Madrigal I, Gabau E, Milà M. Alvarez-Mora MI, et al. Am J Med Genet A. 2017 Oct;173(10):2795-2797. doi: 10.1002/ajmg.a.38384. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28815939
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. Clin Genet. 2018 Jul;94(1):153-158. doi: 10.1111/cge.13257. Clin Genet. 2018. PMID: 29604051
47 results