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Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Bottillo I, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P. Bottillo I, et al. Among authors: grammatico p, grammatico b. Eur J Hum Genet. 2023 Apr;31(4):474-478. doi: 10.1038/s41431-022-01270-z. Epub 2022 Dec 19. Eur J Hum Genet. 2023. PMID: 36529819 Free PMC article.
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
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: grammatico 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.
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. Vetro A, et al. Among authors: grammatico p. Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25351776 Free PMC article.
250 results