Publicaciones

Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement

Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction

Coffee B, Muralidharan K, Highsmith WE Jr, Lapunzina P, Warren ST. Genet Med. 2006 Oct;8(10):628-34

Molecular diagnosis of retinoblastoma: molecular epidemiology and genetic counseling

Alonso J, Palacios I, Gámez A, Camino I, Frayle H, Menéndez I, Kontic M, García-Miguel P, Sastre A, Abelairas J, Sarret E, Sabado C, Navajas A, Artigas M, Indiano JM, Carbone A, Rosell J, Pestaña A. Med Clin (Barc). 2006 Mar 25;126(11):401-5. Spanish

Molecular genetics of HMG-CoA lyase deficiency

Pié J, López-Viñas E, Puisac B, Menao S, Pié A, Casale C, Ramos FJ, Hegardt FG, Gómez-Puertas P, Casals N. Mol Genet Metab. 2007 Nov;92(3):198-209