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Page 1
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: pasini b. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
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.
Lynch syndrome-associated endometrial cancer patient with a rare novel germline likely pathogenic variant of MSH2 gene: A case report.
Zumstein L, Tuninetti V, Vaira M, Siatis D, Palermo F, Petracchini M, Scotto G, Turinetto M, Piva R, Pasini B, Valabrega G. Zumstein L, et al. Among authors: pasini b. Gynecol Oncol Rep. 2023 Jun 16;48:101220. doi: 10.1016/j.gore.2023.101220. eCollection 2023 Aug. Gynecol Oncol Rep. 2023. PMID: 37434947 Free PMC article.
A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report.
Roveta F, Marcinnò A, Grassini A, Ferrandes F, Cermelli A, Boschi S, Gallone S, Atzori C, Imperiale D, Dentelli P, Pasini B, Brusco A, Rubino E, Rainero I. Roveta F, et al. Among authors: pasini b. J Alzheimers Dis Rep. 2023 May 31;7(1):469-473. doi: 10.3233/ADR230023. eCollection 2023. J Alzheimers Dis Rep. 2023. PMID: 37313494 Free PMC article.
Temporal correlation between the first melanoma and the first noncutaneous tumor in CKDN2A genotyped patients.
Gironi LC, Esposto E, Zottarelli F, Giorgione R, Farinelli P, Zavattaro E, Cammarata E, Di Cristo N, Ogliara P, Camillo L, Giordano M, Mellone S, Pasini B, Ambrosi A, Savoia P. Gironi LC, et al. Among authors: pasini b. Melanoma Res. 2023 Oct 1;33(5):425-430. doi: 10.1097/CMR.0000000000000906. Epub 2023 Jun 21. Melanoma Res. 2023. PMID: 37352544
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Trajkova S, Kerkhof J, Sebastiano MR, 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 May 14:100309. doi: 10.1016/j.xhgg.2024.100309. Online ahead of print. HGG Adv. 2024. PMID: 38751117 Free article.
156 results