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Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Tedesco MG, Lonardo F, Ceccarini C, Cesarano C, Digilio MC, Magliozzi M, Rogaia D, Mencarelli A, Leoni C, Piscopo C, Imperatore V, Falco MT, Fontana P, Nardone AM, Novelli A, Troiani S, Seri M, Prontera P. Tedesco MG, et al. Among authors: piscopo c. Am J Med Genet A. 2021 Apr;185(4):1204-1210. doi: 10.1002/ajmg.a.62068. Epub 2021 Jan 14. Am J Med Genet A. 2021. PMID: 33442900
Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19.
Cantalupo S, Lasorsa VA, Russo R, Andolfo I, D'Alterio G, Rosato BE, Frisso G, Abete P, Cassese GM, Servillo G, Gentile I, Piscopo C, Della Monica M, Fiorentino G, Russo G, Cerino P, Buonerba C, Pierri B, Zollo M, Iolascon A, Capasso M. Cantalupo S, et al. Among authors: piscopo c. Int J Mol Sci. 2021 May 20;22(10):5372. doi: 10.3390/ijms22105372. Int J Mol Sci. 2021. PMID: 34065289 Free PMC article.
The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy.
Russo R, Andolfo I, Lasorsa VA, Cantalupo S, Marra R, Frisso G, Abete P, Cassese GM, Servillo G, Esposito G, Gentile I, Piscopo C, Della Monica M, Fiorentino G, Russo G, Cerino P, Buonerba C, Pierri B, Zollo M, Iolascon A, Capasso M. Russo R, et al. Among authors: piscopo c. Genes (Basel). 2021 Jun 8;12(6):881. doi: 10.3390/genes12060881. Genes (Basel). 2021. PMID: 34201032 Free PMC article.
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Di Candia F, et al. Among authors: piscopo c. Eur J Pediatr. 2022 Jan;181(1):171-187. doi: 10.1007/s00431-021-04108-w. Epub 2021 Jul 7. Eur J Pediatr. 2022. PMID: 34232366 Free PMC article. Review.
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.
Nakanishi T, Pigazzini S, Degenhardt F, Cordioli M, Butler-Laporte G, Maya-Miles D, Bujanda L, Bouysran Y, Niemi ME, Palom A, Ellinghaus D, Khan A, Martínez-Bueno M, Rolker S, Amitrano S, Roade Tato L, Fava F; FinnGen; COVID-19 Host Genetics Initiative (HGI); Spinner CD, Prati D, Bernardo D, Garcia F, Darcis G, Fernández-Cadenas I, Holter JC, Banales JM, Frithiof R, Kiryluk K, Duga S, Asselta R, Pereira AC, Romero-Gómez M, Nafría-Jiménez B, Hov JR, Migeotte I, Renieri A, Planas AM, Ludwig KU, Buti M, Rahmouni S, Alarcón-Riquelme ME, Schulte EC, Franke A, Karlsen TH, Valenti L, Zeberg H, Richards JB, Ganna A. Nakanishi T, et al. J Clin Invest. 2021 Dec 1;131(23):e152386. doi: 10.1172/JCI152386. J Clin Invest. 2021. PMID: 34597274 Free PMC article. Clinical Trial.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: piscopo c. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
D'Alterio G, Lasorsa VA, Bonfiglio F, Cantalupo S, Rosato BE, Andolfo I, Russo R, Esposito U, Frisso G, Abete P, Cassese GM, Servillo G, Gentile I, Piscopo C, Della Monica M, Fiorentino G, Boccia A, Paolella G, Ferrucci V, de Antonellis P, Siciliano R, Asadzadeh F, Cerino P, Buonerba C, Pierri B, Zollo M, Iolascon A, Capasso M. D'Alterio G, et al. Among authors: piscopo c. Genet Med. 2022 Aug;24(8):1653-1663. doi: 10.1016/j.gim.2022.04.007. Epub 2022 May 5. Genet Med. 2022. PMID: 35511137 Free PMC article.
74 results