Similar articles for PMID: 7573036

Year	Number of Results
1966	1
1988	1
1991	1
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1995	6
1996	6
1997	3
1998	2
1999	8
2000	9
2001	8
2002	7
2003	6
2004	3
2005	5
2006	3
2007	2
2008	3
2010	1
2011	1
2012	3
2013	2
2014	3
2015	7
2016	3
2017	2
2018	3
2019	1
2024	0

1

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone A, et al. Gasparini P, et al. Am J Hum Genet. 1995 Oct;57(4):781-8. Am J Hum Genet. 1995. PMID: 7573036 Free PMC article.

2

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.

Bisceglia L, Calonge MJ, Dello Strologo L, Rizzoni G, de Sanctis L, Gallucci M, Beccia E, Testar X, Zorzano A, Estivill X, Zelante L, Palacin M, Gasparini P, Nunes V. Bisceglia L, et al. Hum Genet. 1996 Oct;98(4):447-51. doi: 10.1007/s004390050237. Hum Genet. 1996. PMID: 8792820

3

Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.

Egoshi KI, Akakura K, Kodama T, Ito H. Egoshi KI, et al. Kidney Int. 2000 Jan;57(1):25-32. doi: 10.1046/j.1523-1755.2000.00821.x. Kidney Int. 2000. PMID: 10620184 Free article.

4

The molecular basis of cystinuria: the role of the rBAT gene.

Palacín M, Mora C, Chillarón J, Calonge MJ, Estévez R, Torrents D, Testar X, Zorzano A, Nunes V, Purroy J, Estivill X, Gasparini P, Bisceglia L, Zelante L. Palacín M, et al. Amino Acids. 1996 Jun;11(2):225-46. doi: 10.1007/BF00813862. Amino Acids. 1996. PMID: 24178689

5

Cystinuria type I: identification of eight new mutations in SLC3A1.

Bisceglia L, Purroy J, Jiménez-Vidal M, d'Adamo AP, Rousaud F, Beccia E, Penza R, Rizzoni G, Gallucci M, Palacín M, Gasparini P, Nunes V, Zelante L. Bisceglia L, et al. Kidney Int. 2001 Apr;59(4):1250-6. doi: 10.1046/j.1523-1755.2001.0590041250.x. Kidney Int. 2001. PMID: 11260385 Free article.

6

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium. Feliubadaló L, et al. Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652. Nat Genet. 1999. PMID: 10471498

7

Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients.

de Sanctis L, Bruno M, Bonetti G, Cosseddu D, Bisceglia L, Ponzone A, Dianzani I. de Sanctis L, et al. J Inherit Metab Dis. 1996;19(2):243-5. doi: 10.1007/BF01799440. J Inherit Metab Dis. 1996. PMID: 8739976 No abstract available.

8

Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients.

Horsford J, Saadi I, Raelson J, Goodyer PR, Rozen R. Horsford J, et al. Kidney Int. 1996 May;49(5):1401-6. doi: 10.1038/ki.1996.197. Kidney Int. 1996. PMID: 8731106 Free article.

9

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

Botzenhart E, Vester U, Schmidt C, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggermann T; Arbeitsgemeinschaft für Pädiatrische Nephrologie (APN). Botzenhart E, et al. Kidney Int. 2002 Oct;62(4):1136-42. doi: 10.1111/j.1523-1755.2002.kid552.x. Kidney Int. 2002. PMID: 12234283 Free article.

10

Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.

Schmidt C, Tomiuk J, Botzenhart E, Vester U, Halber M, Hesse A, Wagner C, Lahme S, Lang F, Zerres K, Eggermann T, Bachmann H, Bökenkamp A, Fischbach M, Fründ S, Pistor KG, Zappel HF; APN Arbeitsgemeinschaft für Pädiatrische Nephrologie. Schmidt C, et al. Clin Nephrol. 2003 May;59(5):353-9. Clin Nephrol. 2003. PMID: 12779097

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