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Page 1
The Milan Approach today.
Telfener U, de Bustis E, Cazzaniga E, Ferrari F, Floris R, Ganda G, Giordano C, Giuliani M, La Barbera C, Marchiori R, Mosconi A, Mreule S, Pasini B, Pezzolo M, Rosas R, Sacchelli D, Sannasardo P, Sbattella F, Tettamanzi M, Troielli W, Trotta B, Barazzetti A. Telfener U, et al. Among authors: pasini b. Fam Process. 2024 Nov 5. doi: 10.1111/famp.13075. Online ahead of print. Fam Process. 2024. PMID: 39501106
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.
Innella G, Fortuno C, Caleca L, Feng BJ, Carroll C, Parsons MT, Miccoli S, Montagna M, Calistri D, Cortesi L, Pasini B, Manoukian S, Giachino D, Matricardi L, Foti MC, Zampiga V, Piombino C, Barbieri E, Lutati FV, Azzolini J, Danesi R, Arcangeli V, Caputo SM, Boutry-Kryza N, Goussot V, Hiraki S, Richardson M; Hereditary Breast/Ovarian Cancer IOV network (HBOC IOVnet); Ferrari S, Radice P, Spurdle AB, Turchetti D. Innella G, et al. Among authors: pasini b. Cancer Med. 2024 Aug;13(16):e70114. doi: 10.1002/cam4.70114. Cancer Med. 2024. PMID: 39194334 Free PMC article.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Trajkova S, Kerkhof J, Rossi Sebastiano M, Pavinato L, Ferrero E, Giovenino C, Carli D, Di Gregorio E, Marinoni R, Mandrile G, Palermo F, Carestiato S, Cardaropoli S, Pullano V, Rinninella A, Giorgio E, Pippucci T, Dimartino P, Rzasa J, Rooney K, McConkey H, Petlichkovski A, Pasini B, Sukarova-Angelovska E, Campbell CM, Metcalfe K, Jenkinson S, Banka S, Mussa A, Ferrero GB, Sadikovic B, Brusco A. Trajkova S, et al. Among authors: pasini b. HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15. HGG Adv. 2024. PMID: 38751117 Free PMC article.
A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas.
Smirne C, Giacomini GM, Berton AM, Pasini B, Mercalli F, Prodam F, Caputo M, Brosens LAA, Mollero ELM, Pitino R, Pirisi M, Aimaretti G, Ghigo E. Smirne C, et al. Among authors: pasini b. J Endocrinol Invest. 2024 Jul;47(7):1815-1825. doi: 10.1007/s40618-023-02287-x. Epub 2024 Jan 31. J Endocrinol Invest. 2024. PMID: 38294658 Free PMC article.
Identification of a robust DNA methylation signature for Fanconi anemia.
Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M. Pagliara D, et al. Among authors: pasini b. Am J Hum Genet. 2023 Nov 2;110(11):1938-1949. doi: 10.1016/j.ajhg.2023.09.014. Epub 2023 Oct 20. Am J Hum Genet. 2023. PMID: 37865086 Free PMC article.
161 results