Publicaciones

Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene

Venceslá A, Fuentes-Prior P, Baena M, Quintana M, Baiget M, Tizzano EF. Haemophilia. 2008 Sep;14(5):1094-8. Epub 2008 Jul 25. Review

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence

Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL. Hum Mutat. 2008 Jul;29(7):931-8

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

López-Expósito I, Bafalliu JA, Santos M, Fuster C, Puche-Mira A, Guillén-Navarro E. Am J Med Genet A. 2008 May 1;146A(9):1190-4