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Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Guida V, Sparascio FP, Bernardini L, Pancheri F, Melis D, Cocciadiferro D, Pagnoni M, Puzzo M, Goldoni M, Barone C, Hozhabri H, Putotto C, Giuffrida MG, Briuglia S, Palumbo O, Bianca S, Stanzial F, Benedicenti F, Kariminejad A, Forzano F, Baghernajad Salehi L, Mattina T, Brancati F, Castori M, Carella M, Fadda MT, Iannetti G, Dallapiccola B, Digilio MC, Marino B, Tartaglia M, De Luca A. Guida V, et al. Among authors: barone c. Clin Genet. 2021 Sep;100(3):268-279. doi: 10.1111/cge.13994. Epub 2021 May 24. Clin Genet. 2021. PMID: 33988253
15q11.2 microdeletion and hypoplastic left heart syndrome.
Barone C, Novelli A, Bianca I, Cataliotti Del Grano A, Campisi M, Ettore C, Pappalardo E, Indaco L, Ettore G, Bartoloni G, Bianca S. Barone C, et al. Eur J Med Genet. 2015 Nov;58(11):608-10. doi: 10.1016/j.ejmg.2015.09.012. Epub 2015 Oct 23. Eur J Med Genet. 2015. PMID: 26433000 No abstract available.
Carrier screening for spinal muscular atrophy in Italian population.
Calì F, Ruggeri G, Chiavetta V, Scuderi C, Bianca S, Barone C, Ragalmuto A, Schinocca P, Vitello GA, Romano V, Musumeci S. Calì F, et al. Among authors: barone c. J Genet. 2014 Apr;93(1):179-81. doi: 10.1007/s12041-014-0323-x. J Genet. 2014. PMID: 24840836 Free article. No abstract available.
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Sturiale L, Bianca S, Garozzo D, Terracciano A, Agolini E, Messina A, Palmigiano A, Esposito F, Barone C, Novelli A, Fiumara A, Jaeken J, Barone R. Sturiale L, et al. Among authors: barone c, barone r. Glycoconj J. 2019 Dec;36(6):461-472. doi: 10.1007/s10719-019-09890-2. Epub 2019 Sep 16. Glycoconj J. 2019. PMID: 31529350
610 results