Pras E - Search Results

1

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: pras e. 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.

2

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

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

3

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: pras e. 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

4

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: pras e. Isr Med Assoc J. 2007 Jul;9(7):513-6. Isr Med Assoc J. 2007. PMID: 17710781 Free article.

5

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: pras e. Genet Test. 2008 Sep;12(3):351-5. doi: 10.1089/gte.2007.0113. Genet Test. 2008. PMID: 18752446

6

Clinical manifestations in Israeli cystinuria patients and molecular assessment of carrier rates in Libyan Jewish controls.

Sidi R, Levy-Nissenbaum E, Kreiss Y, Pras E. Sidi R, et al. Among authors: pras e. Isr Med Assoc J. 2003 Jun;5(6):439-42. Isr Med Assoc J. 2003. PMID: 12841020 Free article.

7

Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.

Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y. Bar-joseph I, et al. Among authors: pras e. Hum Genet. 2012 Nov;131(11):1805-10. doi: 10.1007/s00439-012-1207-x. Epub 2012 Jul 24. Hum Genet. 2012. PMID: 22825317

8

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.

Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E. Pras E, et al. Am J Hum Genet. 2002 May;70(5):1363-7. doi: 10.1086/340318. Epub 2002 Mar 26. Am J Hum Genet. 2002. PMID: 11917274 Free PMC article.

9

Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24.

Abu A, Frydman M, Marek D, Pras E, Stolovitch C, Aviram-Goldring A, Rienstein S, Reznik-Wolf H, Pras E. Abu A, et al. Among authors: pras e. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5283-7. doi: 10.1167/iovs.06-0206. Invest Ophthalmol Vis Sci. 2006. PMID: 17122114

10

Clinical disease among patients heterozygous for familial Mediterranean fever.

Marek-Yagel D, Berkun Y, Padeh S, Abu A, Reznik-Wolf H, Livneh A, Pras M, Pras E. Marek-Yagel D, et al. Among authors: pras m, pras e. Arthritis Rheum. 2009 Jun;60(6):1862-6. doi: 10.1002/art.24570. Arthritis Rheum. 2009. PMID: 19479871 Free article.

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