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FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. Mao K, et al. Among authors: guida v. Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6. Nat Commun. 2023. PMID: 37041148 Free PMC article.
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Guida V, Calzari L, Fadda MT, Piceci-Sparascio F, Digilio MC, Bernardini L, Brancati F, Mattina T, Melis D, Forzano F, Briuglia S, Mazza T, Bianca S, Valente EM, Salehi LB, Prontera P, Pagnoni M, Tenconi R, Dallapiccola B, Iannetti G, Corsaro L, De Luca A, Gentilini D. Guida V, et al. Int J Mol Sci. 2021 Jan 26;22(3):1190. doi: 10.3390/ijms22031190. Int J Mol Sci. 2021. PMID: 33530447 Free PMC article.
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. Clin Genet. 2021 Sep;100(3):268-279. doi: 10.1111/cge.13994. Epub 2021 May 24. Clin Genet. 2021. PMID: 33988253
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Ferese R, Bonetti M, Consoli F, Guida V, Sarkozy A, Lepri FR, Versacci P, Gambardella S, Calcagni G, Margiotti K, Piceci Sparascio F, Hozhabri H, Mazza T, Digilio MC, Dallapiccola B, Tartaglia M, Marino B, Hertog JD, De Luca A. Ferese R, et al. Among authors: guida v. Hum Mutat. 2018 Oct;39(10):1428-1441. doi: 10.1002/humu.23593. Epub 2018 Jul 30. Hum Mutat. 2018. PMID: 30007050
127 results