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Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Grati FR, Bestetti I, De Siero D, Malvestiti F, Villa N, Sala E, Crosti F, Parisi V, Nardone AM, Di Giacomo G, Pettinari A, Tortora G, Montaldi A, Calò A, Saccilotto D, Zanchetti S, Celli P, Guerneri S, Silipigni R, Cardarelli L, Lippi E, Cavani S, Malacarne M, Genesio R, Beltrami N, Pittalis MC, Desiderio L, Gentile M, Ficarella R, Recalcati MP, Catusi I, Garzo M, Miele L, Corti C, Ghezzo S, Bertini V, Cambi F, Valetto A, Facchinetti B, Bernardini L, Capalbo A, Balducci F, Pelo E, Minuti B, Pescucci C, Giuliani C, Renieri A, Longo I, Tita R, Castello G, Casalone R, Righi R, Raso B, Civolani A, Muzi MC, di Natale M, Varriale L, Gasperini D, Nuzzi MC, Cellamare A, Casieri P, Busuito R, Ceccarini C, Cesarano C, Privitera O, Melani D, Menozzi C, Falcinelli C, Calabrese O, Battaglia P, Tanzariello A, Stampalija T, Ardisia C, Gasparini P, Benn P, Novelli A. Grati FR, et al. Among authors: sala e. Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30. Prenat Diagn. 2022. PMID: 36403097 Free article.
Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?
Redaelli S, Grati FR, Tritto V, Giannuzzi G, Recalcati MP, Sala E, Villa N, Crosti F, Roversi G, Malvestiti F, Zanatta V, Repetti E, Rodeschini O, Valtorta C, Catusi I, Romitti L, Martinoli E, Conconi D, Dalprà L, Lavitrano M, Riva P, Bentivegna A. Redaelli S, et al. Among authors: sala e. HGG Adv. 2024 Apr 11;5(2):100261. doi: 10.1016/j.xhgg.2023.100261. Epub 2023 Dec 30. HGG Adv. 2024. PMID: 38160254 Free PMC article.
Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation.
Villa N, Redaelli S, Farina S, Sala E, Crosti F, Cozzolino S, Verderio M, Dalprà L, Roversi G, Bentivegna A, Cazzaniga G, Lavitrano M, Conconi D. Villa N, et al. Among authors: sala e. Diagnostics (Basel). 2024 Aug 9;14(16):1732. doi: 10.3390/diagnostics14161732. Diagnostics (Basel). 2024. PMID: 39202220 Free PMC article.
Working tables on Hormone Receptor positive (HR+), Human Epidermal growth factor Receptor 2 negative (HER2-) early stage breast cancer: Defining high risk of recurrence.
Zambelli A, Gallerani E, Garrone O, Pedersini R, Rota Caremoli E, Sagrada P, Sala E, Cazzaniga ME. Zambelli A, et al. Among authors: sala e. Crit Rev Oncol Hematol. 2023 Nov;191:104104. doi: 10.1016/j.critrevonc.2023.104104. Epub 2023 Sep 1. Crit Rev Oncol Hematol. 2023. PMID: 37659765 Free article. Review.
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
Bonaventura E, Alberti L, Lucchi S, Cappelletti L, Fazzone S, Cattaneo E, Bellini M, Izzo G, Parazzini C, Bosetti A, Di Profio E, Fiore G, Ferrario M, Mameli C, Sangiorgio A, Masnada S, Zuccotti GV, Veggiotti P, Spaccini L, Iascone M, Verduci E, Cereda C, Tonduti D; XALD-NBS Study Group. Bonaventura E, et al. Front Neurol. 2023 Jan 9;13:1072256. doi: 10.3389/fneur.2022.1072256. eCollection 2022. Front Neurol. 2023. PMID: 36698902 Free PMC article.
Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy.
Negri S, De Ponti E, Sina FP, Sala E, Dell'Oro C, Roversi G, Lazzarin S, Delle Marchette M, Inzoli A, Toso C, Fumagalli S, Campanella M, Kotsopoulos J, Fruscio R. Negri S, et al. Among authors: sala e. Mol Genet Genomic Med. 2022 Dec;10(12):e2071. doi: 10.1002/mgg3.2071. Epub 2022 Oct 28. Mol Genet Genomic Med. 2022. PMID: 36307994 Free PMC article.
892 results