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Page 1
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.
Garzo M, Catusi I, Colombo DM, De Grada L, Recalcati MP, Rodeschini O, Barone C, Beltrami N, Busuito R, Cappellani S, Ciaschini AM, Gulisano A, Malpezzi E, Pecile V, Pittalis MC, Romitti L, Stioui S, Larizza L, Giardino D. Garzo M, et al. Among authors: pittalis mc. Eur J Med Genet. 2020 Feb;63(2):103639. doi: 10.1016/j.ejmg.2019.03.003. Epub 2019 Mar 8. Eur J Med Genet. 2020. PMID: 30858057
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: pittalis mc. Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30. Prenat Diagn. 2022. PMID: 36403097 Free article.
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.
Vitetta G, Desiderio L, Baccolini I, Uliana V, Lanzoni G, Ghi T, Pilu G, Ambrosini E, Caggiati P, Barili V, Trotta AC, Liuti MR, Malpezzi E, Pittalis MC, Percesepe A. Vitetta G, et al. Among authors: pittalis mc. Mol Cytogenet. 2024 Apr 8;17(1):8. doi: 10.1186/s13039-024-00675-3. Mol Cytogenet. 2024. PMID: 38589928 Free PMC article.
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material.
Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S, Nicoletti A, Mencarelli F, Pittalis M, Forabosco A, Cacciari E. Mazzanti L, et al. Am J Med Genet A. 2005 Jun 1;135(2):150-4. doi: 10.1002/ajmg.a.30569. Am J Med Genet A. 2005. PMID: 15880570
Persistence of a monosomic cell line in a fetus with mosaic trisomy 8.
Turchetti D, Pompilii E, Magrini E, Bonasoni MP, Pittalis MC, Segata M, Pession A, Santini D, Pilu G, Seri M. Turchetti D, et al. Among authors: pittalis mc. Am J Med Genet A. 2011 Nov;155A(11):2791-4. doi: 10.1002/ajmg.a.34236. Epub 2011 Sep 19. Am J Med Genet A. 2011. PMID: 21932320
31 results