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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.
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
The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation.
Castori M, Morlino S, Radio FC, De Bernardo C, Grammatico P. Castori M, et al. Among authors: de bernardo c. Am J Med Genet A. 2013 Oct;161A(10):2675-7. doi: 10.1002/ajmg.a.36131. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038754 No abstract available.
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
Molecular characterization of 11 Italian patients with Darier disease.
Pedace L, Barboni L, Pozzetto E, Amantea A, Zambruno G, Preziosi N, Benedicenti F, Boni S, De Brasi D, Panetta C, Ferraro C, De Bernardo C, Castori M, Grammatico P. Pedace L, et al. Among authors: de brasi d, de bernardo c. Eur J Dermatol. 2011 May-Jun;21(3):334-8. doi: 10.1684/ejd.2011.1339. Eur J Dermatol. 2011. PMID: 21527373
Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.
Pedace L, De Simone P, Castori M, Sperduti I, Silipo V, Eibenschutz L, De Bernardo C, Buccini P, Moscarella E, Panetta C, Ferrari A, Grammatico P, Catricalà C. Pedace L, et al. Among authors: de bernardo c, de simone p. Cancer Epidemiol. 2011 Dec;35(6):e116-20. doi: 10.1016/j.canep.2011.07.007. Epub 2011 Sep 3. Cancer Epidemiol. 2011. PMID: 21893440
44 results