Levy-Nissenbaum E - Search Results

1

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M. Lahat H, et al. Am J Hum Genet. 2001 Dec;69(6):1378-84. doi: 10.1086/324565. Epub 2001 Oct 25. Am J Hum Genet. 2001. PMID: 11704930 Free PMC article.

2

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.

3

Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21.

Lahat H, Eldar M, Levy-Nissenbaum E, Bahan T, Friedman E, Khoury A, Lorber A, Kastner DL, Goldman B, Pras E. Lahat H, et al. Circulation. 2001 Jun 12;103(23):2822-7. doi: 10.1161/01.cir.103.23.2822. Circulation. 2001. PMID: 11401939

4

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.

Ben-Zeev B, Levy-Nissenbaum E, Lahat H, Anikster Y, Shinar Y, Brand N, Gross-Tzur V, MacGregor D, Sidi R, Kleta R, Frydman M, Pras E. Ben-Zeev B, et al. Hum Genet. 2002 Aug;111(2):214-8. doi: 10.1007/s00439-002-0770-y. Epub 2002 Jul 16. Hum Genet. 2002. PMID: 12189496

5

Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity.

Levy-Nissenbaum E, Eldar M, Wang Q, Lahat H, Belhassen B, Ries L, Friedman E, Pras E. Levy-Nissenbaum E, et al. Genet Test. 2001 Winter;5(4):331-4. doi: 10.1089/109065701753617480. Genet Test. 2001. PMID: 11960580

6

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.

Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM, Jonca N, Toribio J, Kruse R, Dewald G, Cichon S, Kubisch C, Guerrin M, Serre G, Nöthen MM, Pras E. Levy-Nissenbaum E, et al. Nat Genet. 2003 Jun;34(2):151-3. doi: 10.1038/ng1163. Nat Genet. 2003. PMID: 12754508

7

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. Isr Med Assoc J. 2003 Jun;5(6):439-42. Isr Med Assoc J. 2003. PMID: 12841020 Free article.

8

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.

Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E. Pras E, et al. Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3511-5. Invest Ophthalmol Vis Sci. 2000. PMID: 11006246

9

Confirmation of the association between male pattern baldness and the androgen receptor gene.

Levy-Nissenbaum E, Bar-Natan M, Frydman M, Pras E. Levy-Nissenbaum E, et al. Eur J Dermatol. 2005 Sep-Oct;15(5):339-40. Eur J Dermatol. 2005. PMID: 16172040

10

A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.

Pras E, Pras E, Bakhan T, Levy-Nissenbaum E, Lahat H, Assia EI, Garzozi HJ, Kastner DL, Goldman B, Frydman M. Pras E, et al. Isr Med Assoc J. 2001 Aug;3(8):559-62. Isr Med Assoc J. 2001. PMID: 11519376

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