First report of a patient with a mixoploidy 47,XXX/94,XXXXXX
Rodríguez Criado G, Galán Gómez E, Tizzano EF, García Rodríguez E, Gómez de Terreros I. Genet Couns. 2007;18(1):99-104
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Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry
Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T. Ann Hum Genet. 2007 Mar;71(Pt 2):194-201
Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation
Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, García-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suñer D. Eur J Hum Genet. 2007 Jun;15(6):658-63. Epub 2007 Mar 21
dup(1)(q21q32) as a sole cytogenetic event is associated to a leukemic transformation in myelodysplastic syndromes
Alfaro R, Pérez-Granero A, Durán MA, Besalduch J, Rosell J, Bernués M. Leuk Res. 2008 Jan;32(1):159-61. Epub 2007 May 16
