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Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Piceci-Sparascio F, Palencia-Campos A, Soto-Bielicka P, D'Anzi A, Guida V, Rosati J, Caparros-Martin JA, Torrente I, D'Asdia MC, Versacci P, Briuglia S, Lapunzina P, Tartaglia M, Marino B, Digilio MC, Ruiz-Perez VL, De Luca A. Piceci-Sparascio F, et al. Among authors: guida v. Hum Mutat. 2020 Dec;41(12):2087-2093. doi: 10.1002/humu.24112. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906221
Functional analysis of splicing mutations in exon 7 of NF1 gene.
Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B. Bottillo I, et al. Among authors: guida v. BMC Med Genet. 2007 Feb 12;8:4. doi: 10.1186/1471-2350-8-4. BMC Med Genet. 2007. PMID: 17295913 Free PMC article.
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.
Guida V, Chiappe F, Ferese R, Usala G, Maestrale G, Iannascoli C, Bellacchio E, Mingarelli R, Digilio MC, Marino B, Uda M, De Luca A, Dallapiccola B. Guida V, et al. Clin Genet. 2011 Dec;80(6):591-4. doi: 10.1111/j.1399-0004.2011.01710.x. Clin Genet. 2011. PMID: 22040217 No abstract available.
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, Gelmetti V, Lepri F, Copetti M, Lamorte G, Cristina Digilio M, Marino B, Zaza A, den Hertog J, Dallapiccola B, De Luca A. Guida V, et al. Eur J Hum Genet. 2013 Jan;21(1):69-75. doi: 10.1038/ejhg.2012.109. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713807 Free PMC article.
128 results