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
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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 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 characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement
Vera-Carbonell A, López-Expósito I, Bafalliu JA, Ballesta-Martínez M, Glóver G, Llópis C, Moya-Quiles R, Suela J, Fernández A, Guillén-Navarro E. Am J Med Genet A. 2010 Oct;152A(10):2670-80
