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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
A new CARD15 mutation in Blau syndrome.
van Duist MM, Albrecht M, Podswiadek M, Giachino D, Lengauer T, Punzi L, De Marchi M. van Duist MM, et al. Among authors: giachino d. Eur J Hum Genet. 2005 Jun;13(6):742-7. doi: 10.1038/sj.ejhg.5201404. Eur J Hum Genet. 2005. PMID: 15812565
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells.
Gerosa F, Baldani-Guerra B, Lyakh LA, Batoni G, Esin S, Winkler-Pickett RT, Consolaro MR, De Marchi M, Giachino D, Robbiano A, Astegiano M, Sambataro A, Kastelein RA, Carra G, Trinchieri G. Gerosa F, et al. Among authors: giachino d. J Exp Med. 2008 Jun 9;205(6):1447-61. doi: 10.1084/jem.20071450. Epub 2008 May 19. J Exp Med. 2008. PMID: 18490488 Free PMC article.
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
Epistolato MC, Disciglio V, Livide G, Berchialla P, Mencarelli MA, Marozza A, Amenduni M, Hadjistilianou T, De Francesco S, Acquaviva A, Toti P, Cetta F, Ariani F, De Marchi M, Renieri A, Giachino D. Epistolato MC, et al. Among authors: giachino d. J Hum Genet. 2011 Sep;56(9):685-6. doi: 10.1038/jhg.2011.82. Epub 2011 Aug 4. J Hum Genet. 2011. PMID: 21814224 Free article.
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F. Fallerini C, et al. Among authors: giachino d. Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24033287
78 results