Casari G - Search Results

1

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G. Rampoldi L, et al. Among authors: casari g. Hum Mol Genet. 2003 Dec 15;12(24):3369-84. doi: 10.1093/hmg/ddg353. Epub 2003 Oct 21. Hum Mol Genet. 2003. PMID: 14570709

2

The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.

Auricchio A, Brancolini V, Casari G, Milla PJ, Smith VV, Devoto M, Ballabio A. Auricchio A, et al. Among authors: casari g. Am J Hum Genet. 1996 Apr;58(4):743-8. Am J Hum Genet. 1996. PMID: 8644737 Free PMC article.

3

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.

Auricchio A, Casari G, Staiano A, Ballabio A. Auricchio A, et al. Among authors: casari g. Hum Mol Genet. 1996 Mar;5(3):351-4. doi: 10.1093/hmg/5.3.351. Hum Mol Genet. 1996. PMID: 8852659

4

Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.

Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G. Mastroianni N, et al. Among authors: casari g. Am J Hum Genet. 1996 Nov;59(5):1019-26. Am J Hum Genet. 1996. PMID: 8900229 Free PMC article.

5

Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis.

Bettinelli A, Vezzoli G, Colussi G, Bianchetti MG, Sereni F, Casari G. Bettinelli A, et al. Among authors: casari g. J Nephrol. 1998 Mar-Apr;11(2):61-9. J Nephrol. 1998. PMID: 9589375 Review.

6

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: casari g. Nephrol Dial Transplant. 1998 Oct;13(10):2536-46. doi: 10.1093/ndt/13.10.2536. Nephrol Dial Transplant. 1998. PMID: 9794556

7

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: casari g. Am J Hum Genet. 1999 Jun;64(6):1655-60. doi: 10.1086/302414. Am J Hum Genet. 1999. PMID: 10330352 Free PMC article.

8

Medullary cystic kidney disease: past and present.

Scolari F, Viola BF, Prati E, Ghiggeri GM, Caridi G, Amoroso A, Casari G, Maiorca R. Scolari F, et al. Among authors: casari g. Contrib Nephrol. 2001;(136):68-78. doi: 10.1159/000060180. Contrib Nephrol. 2001. PMID: 11688405 Review. No abstract available.

9

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: casari g. J Nephrol. 2001 Sep-Oct;14(5):392-6. J Nephrol. 2001. PMID: 11730273

10

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

Syrén ML, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, Alì A, Domenici R, Malberti F, Sprocati M, Sacco M, Miglietti N, Edefonti A, Sereni F, Casari G, Coviello DA, Bettinelli A. Syrén ML, et al. Among authors: casari g. Hum Mutat. 2002 Jul;20(1):78. doi: 10.1002/humu.9045. Hum Mutat. 2002. PMID: 12112667

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