Publicaciones

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype

Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O. Eur J Hum Genet. 2008 Dec;16(12):1443-9

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA,…

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

Marker and real-time quantitative analyses to confirm hemophilia B carrier diagnosis of a complete deletion of the F9 gene