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SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Baban A, Olivini N, Lepri FR, Calì F, Mucciolo M, Digilio MC, Calcagni G, di Mambro C, Dallapiccola B, Adorisio R, Novelli A, Drago F. Baban A, et al. Among authors: calcagni g. Am J Med Genet A. 2019 Oct;179(10):2083-2090. doi: 10.1002/ajmg.a.61312. Epub 2019 Aug 1. Am J Med Genet A. 2019. PMID: 31368652 Review.
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.
Baban A, Olivini N, Cantarutti N, Calì F, Vitello C, Valentini D, Adorisio R, Calcagni G, Alesi V, Di Mambro C, Villani A, Dallapiccola B, Digilio MC, Marino B, Carotti A, Drago F. Baban A, et al. Among authors: calcagni g. Am J Med Genet A. 2020 Jun;182(6):1342-1350. doi: 10.1002/ajmg.a.61586. Epub 2020 Apr 22. Am J Med Genet A. 2020. PMID: 32319738
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes-A report of 74 cases with systematic review of the literature.
Mastromoro G, Calcagni G, Vignaroli W, Anaclerio S, Pugnaloni F, Rinelli G, Secinaro A, Bordonaro V, Putotto C, Unolt M, Digilio MC, Marino B, Versacci P. Mastromoro G, et al. Among authors: calcagni g. Am J Med Genet A. 2022 Aug;188(8):2351-2359. doi: 10.1002/ajmg.a.62763. Epub 2022 May 2. Am J Med Genet A. 2022. PMID: 35491976 Review.
70 results