R Ravazzolo

R Ravazzolo

Università degli Studi di Genova - Genoa / Italy
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1854997
University of Genoa
person_outline R Ravazzolo's MOST POPULAR ARTICLES
1-) TMEM16A, a membrane protein associated with calcium-dependent chloride channel activityA Caputo, E Caci, L Ferrera, N Pedemonte, C Barsanti, E Sondo, U Pfeffer, ...Science 322 (5901), 590-594, 200813092008
2-) Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locusS Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ...Nature 478 (7367), 97-102, 20114812011
3-) MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single …M Seri, A Pecci, F Di Bari, R Cusano, M Savino, E Panza, A Nigro, P Noris, ...Medicine 82 (3), 203-215, 20033762003
4-) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.M Seri, R Cusano, S Gangarossa, G Caridi, D Bordo, L Nigro, ...Nature genetics 26 (1), 103-105, 20004012000
5-) Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease …H Azzedine, A Bolino, T Taieb, N Birouk, M Di Duca, A Bouhouche, ...The American Journal of Human Genetics 72 (5), 1141-1153, 20033332003