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51 results

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Page 1
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Fusco C, Nardella G, Petracca A, Ronchi D, Paciello N, Di Giacomo M, Gambardella S, Lanfranconi S, Zampatti S, D'Agruma L, Micale L, Castori M. Fusco C, et al. Among authors: petracca a. Clin Genet. 2021 Jun;99(6):829-835. doi: 10.1111/cge.13944. Epub 2021 Feb 25. Clin Genet. 2021. PMID: 33604894
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M. Fusco C, et al. Among authors: petracca a. Hum Mol Genet. 2019 Jul 1;28(13):2133-2142. doi: 10.1093/hmg/ddz046. Hum Mol Genet. 2019. PMID: 30806661
Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial.
Lanfranconi S, Scola E, Bertani GA, Zarino B, Pallini R, d'Alessandris G, Mazzon E, Marino S, Carriero MR, Scelzo E, Faragò G, Castori M, Fusco C, Petracca A, d'Agruma L, Tassi L, d'Orio P, Lampugnani MG, Nicolis EB, Vasamì A, Novelli D, Torri V, Meessen JMTA, Al-Shahi Salman R, Dejana E, Latini R; Treat-CCM Investigators. Lanfranconi S, et al. Among authors: petracca a. Trials. 2020 May 12;21(1):401. doi: 10.1186/s13063-020-4202-x. Trials. 2020. PMID: 32398113 Free PMC article. Clinical Trial.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: petracca a. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002
Genetic analysis of genes associated with epilepsy.
Guerri G, Castori M, D'Agruma L, Petracca A, Kurti D, Bertelli M. Guerri G, et al. Among authors: petracca a. Acta Biomed. 2020 Nov 9;91(13-S):e2020005. doi: 10.23750/abm.v91i13-S.10596. Acta Biomed. 2020. PMID: 33170158 Free PMC article. Review.
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction.
Leone MP, Palumbo P, Saenen J, Mastroianno S, Castellana S, Amico C, Mazza T, Potenza DR, Petracca A, Castori M, Carella M, Di Stolfo G. Leone MP, et al. Among authors: petracca a. Front Cardiovasc Med. 2021 May 20;8:635141. doi: 10.3389/fcvm.2021.635141. eCollection 2021. Front Cardiovasc Med. 2021. PMID: 34095246 Free PMC article.
51 results