Puzzer D - Search Results

1

AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.

Amoroso A, Pirulli D, Florian F, Puzzer D, Boniotto M, Crovella S, Zezlina S, Spanò A, Mazzola G, Savoldi S, Ferrettini C, Berutti S, Petrarulo M, Marangella M. Amoroso A, et al. Among authors: puzzer d. J Am Soc Nephrol. 2001 Oct;12(10):2072-2079. doi: 10.1681/ASN.V12102072. J Am Soc Nephrol. 2001. PMID: 11562405

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. Among authors: puzzer d. Hum Genet. 1999 May;104(5):441. doi: 10.1007/s004390050984. Hum Genet. 1999. PMID: 10394939 No abstract available.

3

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: puzzer d. Hum Genet. 1999 Jun;104(6):523-5. doi: 10.1007/s004390050998. Hum Genet. 1999. PMID: 10453743

4

Flexibility of melting temperature assay for rapid detection of insertions, deletions, and single-point mutations of the AGXT gene responsible for type 1 primary hyperoxaluria.

Pirulli D, Boniotto M, Puzzer D, Spanò A, Amoroso A, Crovella S. Pirulli D, et al. Among authors: puzzer d. Clin Chem. 2000 Nov;46(11):1842-4. Clin Chem. 2000. PMID: 11067824 No abstract available.

5

Detection of AGXT bgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1.

Pirulli D, Giordano M, Lessi M, Spanò A, Puzzer D, Zezlina S, Boniotto M, Crovella S, Florian F, Marangella M, Momigliano-Richiardi P, Savoldi S, Amoroso A. Pirulli D, et al. Among authors: puzzer d. Clin Exp Med. 2001 Jun;1(2):99-104. doi: 10.1007/s10238-001-8019-y. Clin Exp Med. 2001. PMID: 11699734

6

Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12.

Pirulli D, Puzzer D, De Fusco M, Crovella S, Amoroso A, Scolari F, Viola BF, Maiorca R, Caridi G, Savoldi S, Ghiggeri G, Casari G. Pirulli D, et al. Among authors: puzzer d. J Nephrol. 2001 Sep-Oct;14(5):392-6. J Nephrol. 2001. PMID: 11730273

7

Rapid method for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert syndrome.

Pirulli D, Giordano M, Puzzer D, Crovella S, Rigato I, Tiribelli C, Momigliano-Richiardi P, Amoroso A. Pirulli D, et al. Among authors: puzzer d. Clin Chem. 2000 Jan;46(1):129-31. Clin Chem. 2000. PMID: 10620585 No abstract available.

8

Detection of MRP1 mRNA in human tumors and tumor cell lines by in situ RT-PCR.

Pascolo L, Fernetti C, Pirulli D, Bogoni S, Garcia-Mediavilla MV, Spanò A, Puzzer D, Tiribelli C, Amoroso A, Crovella S. Pascolo L, et al. Among authors: puzzer d. Biochem Biophys Res Commun. 2000 Aug 28;275(2):466-71. doi: 10.1006/bbrc.2000.3339. Biochem Biophys Res Commun. 2000. PMID: 10964688

9

Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus.

Scolari F, Ghiggeri GM, Casari G, Amoroso A, Puzzer D, Caridi GL, Valzorio B, Tardanico R, Vizzardi V, Savoldi S, Viola BF, Bossini N, Prati E, Gusmano R, Maiorca R. Scolari F, et al. Among authors: puzzer d. Nephrol Dial Transplant. 1998 Oct;13(10):2536-46. doi: 10.1093/ndt/13.10.2536. Nephrol Dial Transplant. 1998. PMID: 9794556

10

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, Aridon P, De Fusco M, Ballabio A, Casari G. Scolari F, et al. Among authors: puzzer d. Am J Hum Genet. 1999 Jun;64(6):1655-60. doi: 10.1086/302414. Am J Hum Genet. 1999. PMID: 10330352 Free PMC article.

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