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Page 1
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: giachino d. Cancer Med. 2024 Aug;13(16):e70114. doi: 10.1002/cam4.70114. Cancer Med. 2024. PMID: 39194334 Free PMC article.
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: giachino d. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.
Giachino D, van Duist MM, Regazzoni S, Gregori D, Bardessono M, Salacone P, Scaglione N, Sostegni R, Sapone N, Bresso F, Sambataro A, Gaia E, Pera A, Astegiano M, De Marchi M. Giachino D, et al. Eur J Hum Genet. 2004 Mar;12(3):206-12. doi: 10.1038/sj.ejhg.5201130. Eur J Hum Genet. 2004. PMID: 14747834
NOTCH3 gene mutations in subjects clinically suspected of CADASIL.
Mosca L, Marazzi R, Ciccone A, Santilli I, Bersano A, Sansone V, Grosso E, Mandrile G, Giachino DF, Adobbati L, Corengia E, Agostoni E, Fiumani A, Gallone S, Scarpini E, Guidotti M, Sterzi R, Ajmone C, Marocchi A, Penco S. Mosca L, et al. J Neurol Sci. 2011 Aug 15;307(1-2):144-8. doi: 10.1016/j.jns.2011.04.019. Epub 2011 May 26. J Neurol Sci. 2011. PMID: 21616505 Free article.
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F. Marcocci E, et al. Among authors: giachino d. Nephrol Dial Transplant. 2009 May;24(5):1464-71. doi: 10.1093/ndt/gfn681. Epub 2009 Jan 7. Nephrol Dial Transplant. 2009. PMID: 19129241 Free article.
78 results