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Year Number of Results
2014 1
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2020 4
2021 3
2022 3
2023 4
2024 1

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17 results

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Page 1
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.
Bonetti G, Cozza W, Bernini A, Kaftalli J, Mareso C, Cristofoli F, Medori MC, Colombo L, Martella S, Staurenghi G, Salvetti AP, Falsini B, Placidi G, Attanasio M, Pertile G, Bengala M, Bosello F, Petracca A, D'Esposito F, Toschi B, Lanzetta P, Ricci F, Viola F, Marceddu G, Bertelli M. Bonetti G, et al. Among authors: petracca a. Int J Mol Sci. 2023 Nov 28;24(23):16881. doi: 10.3390/ijms242316881. Int J Mol Sci. 2023. PMID: 38069202 Free PMC article.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: petracca a. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial.
Lanfranconi S, Scola E, Meessen JMTA, Pallini R, Bertani GA, Al-Shahi Salman R, Dejana E, Latini R; Treat_CCM Investigators. Lanfranconi S, et al. Lancet Neurol. 2023 Jan;22(1):35-44. doi: 10.1016/S1474-4422(22)00409-4. Epub 2022 Nov 17. Lancet Neurol. 2023. PMID: 36403580 Free article. Clinical Trial.
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.
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
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.
17 results