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Page 1
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, K… See abstract for full author list ➔ Parsons MT, et al. Among authors: germani a. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
Germani A, Petrucci S, De Marchis L, Libi F, Savio C, Amanti C, Bonifacino A, Campanella B, Capalbo C, Lombardi A, Maggi S, Mattei M, Osti MF, Pellegrini P, Speranza A, Stanzani G, Vitale V, Pizzuti A, Torrisi MR, Piane M. Germani A, et al. J Clin Med. 2020 Sep 17;9(9):3003. doi: 10.3390/jcm9093003. J Clin Med. 2020. PMID: 32957588 Free PMC article.
Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.
Magrì D, Mastromarino V, Gallo G, Zachara E, Re F, Agostoni P, Giordano D, Rubattu S, Forte M, Cotugno M, Torrisi MR, Petrucci S, Germani A, Savio C, Maruotti A, Volpe M, Autore C, Piane M, Musumeci B. Magrì D, et al. Among authors: germani a. J Clin Med. 2020 May 28;9(6):1636. doi: 10.3390/jcm9061636. J Clin Med. 2020. PMID: 32481709 Free PMC article.
RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes.
Di Napoli A, Vacca D, Bertolazzi G, Lopez G, Piane M, Germani A, Rogges E, Pepe G, Santanelli Di Pompeo F, Salgarello M, Jobanputra V, Hsiao S, Wrzeszczynski KO, Berti E, Bhagat G. Di Napoli A, et al. Among authors: germani a. Cancers (Basel). 2021 Dec 7;13(24):6174. doi: 10.3390/cancers13246174. Cancers (Basel). 2021. PMID: 34944796 Free PMC article.
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways.
Bianco L, Raffa S, Fornelli P, Mancini R, Gabriele A, Medici F, Battista C, Greco S, Croce G, Germani A, Petrucci S, Anibaldi P, Bianco V, Ronchetti M, Banchieri G, Napoli C, Piane M. Bianco L, et al. Among authors: germani a. Int J Environ Res Public Health. 2022 Jun 25;19(13):7806. doi: 10.3390/ijerph19137806. Int J Environ Res Public Health. 2022. PMID: 35805466 Free PMC article.
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy.
Micolonghi C, Fabiani M, Pagannone E, Savio C, Ricci M, Caroselli S, Gambioli V, Musumeci B, Germani A, Tini G, Autore C, Pizzuti A, Visco V, Rubattu S, Petrucci S, Piane M. Micolonghi C, et al. Among authors: germani a. Curr Issues Mol Biol. 2023 Mar 15;45(3):2422-2430. doi: 10.3390/cimb45030157. Curr Issues Mol Biol. 2023. PMID: 36975527 Free PMC article.
143 results