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Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
Catteruccia M, Verrigni D, Martinelli D, Torraco A, Agovino T, Bonafé L, D'Amico A, Donati MA, Adorisio R, Santorelli FM, Carrozzo R, Bertini E, Dionisi-Vici C. Catteruccia M, et al. Among authors: adorisio r. Mol Genet Metab. 2014 Mar;111(3):353-359. doi: 10.1016/j.ymgme.2014.01.001. Epub 2014 Jan 8. Mol Genet Metab. 2014. PMID: 24485043
Heterotaxy syndrome with and without spleen: Different infection risk and management.
Piano Mortari E, Baban A, Cantarutti N, Bocci C, Adorisio R, Carsetti R. Piano Mortari E, et al. Among authors: adorisio r. J Allergy Clin Immunol. 2017 Jun;139(6):1981-1984.e1. doi: 10.1016/j.jaci.2016.10.014. Epub 2016 Nov 15. J Allergy Clin Immunol. 2017. PMID: 27864025 Free article. No abstract available.
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: adorisio r. 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.
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Baban A, Adorisio R, Corica B, Rizzo C, Calì F, Semeraro M, Taurisano R, Magliozzi M, Carrozzo R, Parisi F, Dallapiccola B, Vaz FM, Drago F, Dionisi-Vici C. Baban A, et al. Among authors: adorisio r. Am J Med Genet A. 2020 Jan;182(1):64-70. doi: 10.1002/ajmg.a.61383. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729175
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: adorisio r. 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
59 results