(Head of Laboratory))
(Trainee in Biology)
(Trainee in Medical Genetics)
Reading the Genome: from chromosomes to DNA sequencing
Highlighting the molecular basis of pathological conditions may allow to better define patients outcome, setting more effective therapies, and take care of the at risk relatives.
Our laboratory is involved in defining the molecular basis of disease both in children and adults, as well as in prenatal setting.
Genetic counseling is always provided as essential part of the flow chart analysis.
Our studies make use of different technical approaches and a close collaboration with the medical corps of the city hospitals and San Matteo Hospital in particular.
Selected PapersLoss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. Vetro A, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O. Hum Mutat. 2015 May;36(5):562-8. doi: 10.1002/humu.22784.
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3. Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C,Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237.
PRKACB and Carney complex. Forlino A, Vetro A, Garavelli L, Ciccone R, London E, Stratakis CA, Zuffardi O.N Engl J Med. 2014 Mar 13;370(11):1065-7. doi: 10.1056/NEJMc1309730.