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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: madrigal i. 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
46,XY,18q+/46,XY,18q- mosaicism in a fragile X prenatal diagnosis.
Rodriguez-Revenga L, Badenas C, Madrigal I, Sánchez A, Soler A, Carrió A, Milà M. Rodriguez-Revenga L, et al. Among authors: madrigal i. Prenat Diagn. 2005 Jun;25(6):448-50. doi: 10.1002/pd.1150. Prenat Diagn. 2005. PMID: 15966059
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. Among authors: madrigal i. 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.
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
Alvarez-Mora MI, Calvo Escalona R, Puig Navarro O, Madrigal I, Quintela I, Amigo J, Martinez-Elurbe D, Linder-Lucht M, Aznar Lain G, Carracedo A, Mila M, Rodriguez-Revenga L. Alvarez-Mora MI, et al. Among authors: madrigal i. Mutat Res. 2016 Feb-Mar;784-785:46-52. doi: 10.1016/j.mrfmmm.2015.12.006. Epub 2016 Jan 6. Mutat Res. 2016. PMID: 26845707
89 results