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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. Eur J Hum Genet. 2005 Jun;13(6):742-7. doi: 10.1038/sj.ejhg.5201404. Eur J Hum Genet. 2005. PMID: 15812565
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. Among authors: giachino df. 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.
BClI polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with Addison's disease.
Giordano R, Marzotti S, Berardelli R, Karamouzis I, Brozzetti A, D'Angelo V, Mengozzi G, Mandrile G, Giachino D, Migliaretti G, Bini V, Falorni A, Ghigo E, Arvat E. Giordano R, et al. Clin Endocrinol (Oxf). 2012 Dec;77(6):863-70. doi: 10.1111/j.1365-2265.2012.04439.x. Clin Endocrinol (Oxf). 2012. PMID: 22587831 Free article.
62 results