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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
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
A novel variant in the 3' untranslated region of the CDK4 gene: interference with microRNA target sites and role in increased risk of cutaneous melanoma.
Pedace L, Cozzolino AM, Barboni L, De Bernardo C, Grammatico P, De Simone P, Buccini P, Ferrari A, Catricalà C, Colombo T, Donati P, Morrone A. Pedace L, et al. Among authors: de bernardo c, de simone p. Cancer Genet. 2014 Apr;207(4):168-9. doi: 10.1016/j.cancergen.2014.03.005. Epub 2014 Mar 19. Cancer Genet. 2014. PMID: 24797605 No abstract available.
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
A novel germline mutation in CDK4 codon 24 associated to familial melanoma.
Bottillo I, La Starza R, Radio FC, Molica C, Pedace L, Pierini T, De Bernardo C, Stingeni L, Bargiacchi S, Paiardini A, Janson G, Mecucci C, Grammatico P. Bottillo I, et al. Among authors: de bernardo c. Clin Genet. 2018 Apr;93(4):934-935. doi: 10.1111/cge.13129. Epub 2017 Nov 10. Clin Genet. 2018. PMID: 29124743 No abstract available.
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
44 results