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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: de bernardo c. 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
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
Majore S, Bonaccorsi di Patti MC, Valiante M, Polticelli F, Cortese A, Di Bartolomeo S, De Bernardo C, De Muro M, Faienza F, Radio FC, Grammatico P, Musci G. Majore S, et al. Among authors: de bernardo c. Biochim Biophys Acta Mol Basis Dis. 2018 Feb;1864(2):464-470. doi: 10.1016/j.bbadis.2017.11.006. Epub 2017 Nov 14. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29154924 Free article.
CDKN2A novel mutation in a patient from a melanoma-prone family.
Grammatico P, Binni F, Eibenschutz L, De Bernardo C, Grammatico B, Rinaldi R, De Simone P, Catricalà C. Grammatico P, et al. Among authors: de bernardo c, de simone p. Melanoma Res. 2001 Oct;11(5):447-9. doi: 10.1097/00008390-200110000-00002. Melanoma Res. 2001. PMID: 11595880
Novel and recurrent p14 mutations in Italian familial melanoma.
Binni F, Antigoni I, De Simone P, Majore S, Silipo V, Crisi A, Amantea A, Pacchiarini D, Castori M, De Bernardo C, Catricalà C, Grammatico P. Binni F, et al. Among authors: de bernardo c, de simone p. Clin Genet. 2010 Jun;77(6):581-6. doi: 10.1111/j.1399-0004.2009.01298.x. Epub 2010 Feb 4. Clin Genet. 2010. PMID: 20132244
Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.
Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, Maggiulli G, Grammatico B, Remotti D, Saccucci P, Valentini F, Mazzilli MC, Majore S, Grammatico P. Tomaselli S, et al. Among authors: de bernardo c. Hum Mutat. 2008 Feb;29(2):220-6. doi: 10.1002/humu.20665. Hum Mutat. 2008. PMID: 18085567
44 results