Amoroso A - Search Results

1

A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

Miertus J, Borozdin W, Frecer V, Tonini G, Bertok S, Amoroso A, Miertus S, Kohlhase J. Miertus J, et al. Among authors: amoroso a. Hum Genet. 2006 Mar;119(1-2):154-61. doi: 10.1007/s00439-005-0124-7. Epub 2006 Jan 3. Hum Genet. 2006. PMID: 16402211

2

Gene symbol: AGXT. Disease: primary hyperoxaluria type I.

Amoroso A, Pirulli D, Puzzer D, Ferri L, Crovella S, Ferrettini C, Marangella M, Mazzola G, Florian F. Amoroso A, et al. Hum Genet. 1999 May;104(5):441. doi: 10.1007/s004390050984. Hum Genet. 1999. PMID: 10394939 No abstract available.

3

Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.

Demori E, Devescovi R, Benussi DG, Dolce S, Carrozzi M, Villa N, Miertus J, Amoroso A, Pecile V. Demori E, et al. Among authors: amoroso a. Am J Med Genet A. 2004 Oct 15;130A(3):288-94. doi: 10.1002/ajmg.a.20677. Am J Med Genet A. 2004. PMID: 15378554 Review.

4

Association of interferon-gamma +874A polymorphism with reduced long-term inflammatory response in haemodialysis patients.

Biolo G, Amoroso A, Savoldi S, Bosutti A, Martone M, Pirulli D, Bianco F, Ulivi S, Bertok S, Artero M, Barazzoni R, Zanetti M, Grassi G, Guarnieri G, Panzetta G. Biolo G, et al. Among authors: amoroso a. Nephrol Dial Transplant. 2006 May;21(5):1317-22. doi: 10.1093/ndt/gfk033. Epub 2006 Jan 12. Nephrol Dial Transplant. 2006. PMID: 16410273

5

Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci.

Bisceglia L, Cerullo G, Forabosco P, Torres DD, Scolari F, Di Perna M, Foramitti M, Amoroso A, Bertok S, Floege J, Mertens PR, Zerres K, Alexopoulos E, Kirmizis D, Ermelinda M, Zelante L, Schena FP; European IgAN Consortium. Bisceglia L, et al. Among authors: amoroso a. Am J Hum Genet. 2006 Dec;79(6):1130-4. doi: 10.1086/510135. Epub 2006 Nov 3. Am J Hum Genet. 2006. PMID: 17186473 Free PMC article.

6

Molecular aspects of a novel HLA-A*02 allele (A*0297): the first HLA class I allele mutated at codon 232.

Garino E, Miertus J, Berrino M, Bertinetto F, Caropreso P, Gay V, Mazzola G, Tondat F, Frecer V, Miertus S, Amoroso A. Garino E, et al. Among authors: amoroso a. Tissue Antigens. 2007 Apr;69(4):342-7. doi: 10.1111/j.1399-0039.2007.00819.x. Tissue Antigens. 2007. PMID: 17389019

7

Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy.

Pirulli D, Crovella S, Ulivi S, Zadro C, Bertok S, Rendine S, Scolari F, Foramitti M, Ravani P, Roccatello D, Savoldi S, Cerullo G, Lanzilotta SG, Bisceglia L, Zelante L, Floege J, Alexopoulos E, Kirmizis D, Ghiggeri GM, Frascà G, Schena FP, Amoroso A; European IgAN Consortium. Pirulli D, et al. Among authors: amoroso a. J Nephrol. 2009 Jan-Feb;22(1):152-9. J Nephrol. 2009. PMID: 19229831

8

Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.

Robbiano A, Frecer V, Miertus J, Zadro C, Ulivi S, Bevilacqua E, Mandrile G, De Marchi M, Miertus S, Amoroso A. Robbiano A, et al. Among authors: amoroso a. J Nephrol. 2010 Nov-Dec;23(6):667-76. J Nephrol. 2010. PMID: 20564000 Free article.

9

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

Cini G, Mezzavilla M, Della Puppa L, Cupelli E, Fornasin A, D'Elia AV, Dolcetti R, Damante G, Bertok S, Miolo G, Maestro R, de Paoli P, Amoroso A, Viel A. Cini G, et al. Among authors: amoroso a. BMC Med Genet. 2016 Feb 6;17:11. doi: 10.1186/s12881-016-0274-6. BMC Med Genet. 2016. PMID: 26852130 Free PMC article.

10

Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.

Pirulli D, Puzzer D, Ferri L, Crovella S, Amoroso A, Ferrettini C, Marangella M, Mazzola G, Florian F. Pirulli D, et al. Among authors: amoroso a. Hum Genet. 1999 Jun;104(6):523-5. doi: 10.1007/s004390050998. Hum Genet. 1999. PMID: 10453743

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