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Page 1
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
Lanzara C, Roetto A, Daraio F, Rivard S, Ficarella R, Simard H, Cox TM, Cazzola M, Piperno A, Gimenez-Roqueplo AP, Grammatico P, Volinia S, Gasparini P, Camaschella C. Lanzara C, et al. Among authors: grammatico p. Blood. 2004 Jun 1;103(11):4317-21. doi: 10.1182/blood-2004-01-0192. Epub 2004 Feb 24. Blood. 2004. PMID: 14982873 Free article.
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.
Radio FC, Majore S, Aurizi C, Sorge F, Biolcati G, Bernabini S, Giotti I, Torricelli F, Giannarelli D, De Bernardo C, Grammatico P. Radio FC, et al. Among authors: grammatico p. Blood Cells Mol Dis. 2015 Jun;55(1):71-5. doi: 10.1016/j.bcmd.2015.04.001. Epub 2015 Apr 16. Blood Cells Mol Dis. 2015. PMID: 25976471
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
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
A deletion 3' to the PAX6 gene in familial aniridia cases.
D'Elia AV, Pellizzari L, Fabbro D, Pianta A, Divizia MT, Rinaldi R, Grammatico B, Grammatico P, Arduino C, Damante G. D'Elia AV, et al. Among authors: grammatico p, grammatico b. Mol Vis. 2007 Jul 23;13:1245-50. Mol Vis. 2007. PMID: 17679951
245 results