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Spina bifida and folate-related genes: a study of gene-gene interactions.
de Franchis R, Botto LD, Sebastio G, Ricci R, Iolascon A, Capra V, Andria G, Mastroiacovo P. de Franchis R, et al. Among authors: capra v. Genet Med. 2002 May-Jun;4(3):126-30. doi: 10.1097/00125817-200205000-00005. Genet Med. 2002. PMID: 12180146 Free article.
Folate pathway gene alterations in patients with neural tube defects.
De Marco P, Moroni A, Merello E, de Franchis R, Andreussi L, Finnell RH, Barber RC, Cama A, Capra V. De Marco P, et al. Among authors: capra v. Am J Med Genet. 2000 Nov 27;95(3):216-23. doi: 10.1002/1096-8628(20001127)95:3<216::aid-ajmg6>3.0.co;2-f. Am J Med Genet. 2000. PMID: 11102926
Reduced folate carrier polymorphism (80A-->G) and neural tube defects.
De Marco P, Calevo MG, Moroni A, Merello E, Raso A, Finnell RH, Zhu H, Andreussi L, Cama A, Capra V. De Marco P, et al. Among authors: capra v. Eur J Hum Genet. 2003 Mar;11(3):245-52. doi: 10.1038/sj.ejhg.5200946. Eur J Hum Genet. 2003. PMID: 12673279
Loss of 10q26.1-q26.3 in association with 7q34-q36.3 gain or 17q24.3-q25.3 gain predict poor outcome in pediatric medulloblastoma.
Pezzolo A, Coco S, Raso A, Parodi F, Pistorio A, Valdora F, Capra V, Zollo M, Aschero S, Basso E, Cama A, Nozza P, Gambini C, Cinalli G, Garrè ML, Iolascon A, Pistoia V, Tonini GP. Pezzolo A, et al. Among authors: capra v. Cancer Lett. 2011 Sep 28;308(2):215-24. doi: 10.1016/j.canlet.2011.05.006. Epub 2011 Jun 8. Cancer Lett. 2011. PMID: 21652146
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Cappuccio G, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, Van-Gils J, Dubourg C, Odent S, Gerard B, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Chapman KA, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K; Telethon Undiagnosed Diseases Program; Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N. Cappuccio G, et al. Genet Med. 2020 Nov;22(11):1838-1850. doi: 10.1038/s41436-020-0898-y. Epub 2020 Jul 22. Genet Med. 2020. PMID: 32694869 Free article.
253 results