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Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F, Girolami F, Boschi B, Barlocco F, Tomberli A, Baldini K, Coppini R, Tanini I, Bardi S, Contini E, Cecchi F, Pelo E, Cook SA, Cerbai E, Poggesi C, Torricelli F, Walsh R, Olivotto I. Mazzarotto F, et al. Among authors: contini e. Genet Med. 2019 Feb;21(2):284-292. doi: 10.1038/s41436-018-0046-0. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875424 Free PMC article.
Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
Gerundino F, Giachini C, Contini E, Benelli M, Marseglia G, Giuliani C, Marin F, Nannetti G, Lisi E, Sbernini F, Periti E, Cordisco A, Colosi E, D'ambrosio V, Mazzi M, Rossi M, Staderini L, Minuti B, Pelo E, Cicatiello R, Maruotti GM, Sglavo G, Conti A, Frusconi S, Pescucci C, Torricelli F. Gerundino F, et al. Among authors: contini e. J Matern Fetal Neonatal Med. 2017 Mar;30(6):710-716. doi: 10.1080/14767058.2016.1183633. Epub 2016 May 26. J Matern Fetal Neonatal Med. 2017. PMID: 27226231
Fundus phenotype in retinitis pigmentosa associated with EYS mutations.
Mucciolo DP, Sodi A, Passerini I, Murro V, Cipollini F, Borg I, Pelo E, Contini E, Virgili G, Rizzo S. Mucciolo DP, et al. Among authors: contini e. Ophthalmic Genet. 2018 Oct;39(5):589-602. doi: 10.1080/13816810.2018.1509351. Epub 2018 Aug 28. Ophthalmic Genet. 2018. PMID: 30153090
Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C. Riera-Escamilla A, et al. Among authors: contini e. Hum Reprod. 2019 Jun 4;34(6):978-988. doi: 10.1093/humrep/dez042. Hum Reprod. 2019. PMID: 31125047
Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma.
De Filpo G, Contini E, Serio V, Valeri A, Chetta M, Guasti D, Bani D, Mannelli M, Rapizzi E, Luconi M, Maggi M, Ercolino T, Canu L. De Filpo G, et al. Among authors: contini e. Int J Endocrinol. 2020 May 30;2020:3671396. doi: 10.1155/2020/3671396. eCollection 2020. Int J Endocrinol. 2020. PMID: 32565791 Free PMC article.
39 results