Bisceglia L - Search Results

1

A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.

Lotan D, Yoskovitz G, Bisceglia L, Gerad L, Reznik-Wolf H, Pras E. Lotan D, et al. Among authors: bisceglia l. Isr Med Assoc J. 2007 Jul;9(7):513-6. Isr Med Assoc J. 2007. PMID: 17710781 Free article.

2

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacín M, Rizzoni G. Dello Strologo L, et al. Among authors: bisceglia l. J Am Soc Nephrol. 2002 Oct;13(10):2547-53. doi: 10.1097/01.asn.0000029586.17680.e5. J Am Soc Nephrol. 2002. PMID: 12239244

3

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Bisceglia L, Reznik-Wolf H, Di Perna M, Pras E. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):215. Hum Genet. 2007. PMID: 18386386 No abstract available.

4

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

Di Perna M, Louizou E, Fischetti L, Dedoussis GV, Stanziale P, Michelakakis H, Zelante L, Pras E, Bisceglia L. Di Perna M, et al. Among authors: bisceglia l. Genet Test. 2008 Sep;12(3):351-5. doi: 10.1089/gte.2007.0113. Genet Test. 2008. PMID: 18752446

5

Clinical utility gene card for: Cystinuria.

Eggermann T, Zerres K, Nunes V, Font-Llitjós M, Bisceglia L, Chatzikyriakidou A, dello Strologo L, Pras E, Creemers J, Palacin M. Eggermann T, et al. Among authors: bisceglia l. Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.163. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863055 Free PMC article. No abstract available.

6

Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL Jr, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernández E, Zorzano A, Bertran J, Palacín M; International Cystinuria Consortium. Font MA, et al. Among authors: bisceglia l. Hum Mol Genet. 2001 Feb 15;10(4):305-16. doi: 10.1093/hmg/10.4.305. Hum Mol Genet. 2001. PMID: 11157794

7

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. Among authors: bisceglia l. Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652. Nat Genet. 1999. PMID: 10471498

8

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.

Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota Mdo C, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML. Barbosa M, et al. Among authors: bisceglia l. Clin Genet. 2012 Jan;81(1):47-55. doi: 10.1111/j.1399-0004.2011.01638.x. Epub 2011 Feb 14. Clin Genet. 2012. PMID: 21255007

9

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

10

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V. Font-Llitjós M, et al. Among authors: bisceglia l. J Med Genet. 2005 Jan;42(1):58-68. doi: 10.1136/jmg.2004.022244. J Med Genet. 2005. PMID: 15635077 Free PMC article.

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