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Page 1
High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.
Mantelli M, Barile M, Ciotti P, Ghiorzo P, Lantieri F, Pastorino L, Catricalà C, Torre GD, Folco U, Grammatico P, Padovani L, Pasini B, Rovini D, Queirolo P, Rainero ML, Santi PL, Sertoli RM, Goldstein AM, Bianchi-Scarrà G; Società Italiana Dermatologia; Gruppo Italiano Studi Epidemiologici in Dermatologia. Mantelli M, et al. Among authors: grammatico p. Am J Med Genet. 2002 Jan 22;107(3):214-21. Am J Med Genet. 2002. PMID: 11807902
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Cecconi M, et al. Among authors: grammatico p. Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492. Am J Med Genet A. 2005. PMID: 15742365
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.
Stuppia L, Antonucci I, Binni F, Brandi A, Grifone N, Colosimo A, De Santo M, Gatta V, Gelli G, Guida V, Majore S, Calabrese G, Palka C, Ravani A, Rinaldi R, Tiboni GM, Ballone E, Venturoli A, Ferlini A, Torrente I, Grammatico P, Calzolari E, Dallapiccola B. Stuppia L, et al. Among authors: grammatico p. Eur J Hum Genet. 2005 Aug;13(8):959-64. doi: 10.1038/sj.ejhg.5201437. Eur J Hum Genet. 2005. PMID: 15870824
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
Martinelli S, Carta C, Flex E, Binni F, Cordisco EL, Moretti S, Puxeddu E, Tonacchera M, Pinchera A, McDowell HP, Dominici C, Rosolen A, Di Rocco C, Riccardi R, Celli P, Picardo M, Genuardi M, Grammatico P, Sorcini M, Tartaglia M. Martinelli S, et al. Among authors: grammatico p. Cancer Genet Cytogenet. 2006 Apr 15;166(2):124-9. doi: 10.1016/j.cancergencyto.2005.10.003. Cancer Genet Cytogenet. 2006. PMID: 16631468
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
Castori M, Brancati F, Rinaldi R, Adami L, Mingarelli R, Grammatico P, Dallapiccola B. Castori M, et al. Among authors: grammatico p. Am J Med Genet A. 2006 Jul 15;140(14):1573-9. doi: 10.1002/ajmg.a.31290. Am J Med Genet A. 2006. PMID: 16761296 Review.
249 results