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

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations

Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome