Reznik-Wolf H - Search Results

1

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.

Greenbaum L, Ben-David M, Nikitin V, Gera O, Barel O, Hersalis-Eldar A, Shamash J, Shimshoviz N, Reznik-Wolf H, Shohat M, Dominissini D, Pras E, Dori A. Greenbaum L, et al. Among authors: reznik wolf h. Ann Clin Transl Neurol. 2021 Jun;8(6):1260-1268. doi: 10.1002/acn3.51362. Epub 2021 May 11. Ann Clin Transl Neurol. 2021. PMID: 33973728 Free PMC article.

2

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. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5283-7. doi: 10.1167/iovs.06-0206. Invest Ophthalmol Vis Sci. 2006. PMID: 17122114

3

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

4

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.

Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E. Abu A, et al. Am J Hum Genet. 2008 May;82(5):1217-22. doi: 10.1016/j.ajhg.2008.04.001. Epub 2008 May 1. Am J Hum Genet. 2008. PMID: 18452888 Free PMC article.

5

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. Arthritis Rheum. 2009 Jun;60(6):1862-6. doi: 10.1002/art.24570. Arthritis Rheum. 2009. PMID: 19479871 Free article.

6

Rapidly progressive Creutzfeldt-Jakob disease in patients with Familial Mediterranean Fever.

Appel SA, Chapman J, Kahana E, Rosenmann H, Prohovnik I, Pras E, Reznik-Wolf H, Cohen OS. Appel SA, et al. Eur J Neurol. 2010 Jun 1;17(6):861-5. doi: 10.1111/j.1468-1331.2010.02948.x. Epub 2010 Jan 20. Eur J Neurol. 2010. PMID: 20113338 Free PMC article.

7

Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.

Marek-Yagel D, Berkun Y, Padeh S, Lidar M, Shinar Y, Bar-Joseph I, Reznik-Wolf H, Langevitz P, Livneh A, Pras E. Marek-Yagel D, et al. Arthritis Care Res (Hoboken). 2010 Sep;62(9):1294-8. doi: 10.1002/acr.20213. Arthritis Care Res (Hoboken). 2010. PMID: 20506103 Free article.

8

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.

Yonath H, Reznik-Wolf H, Berkenstadt M, Eisenberg-Barzilai S, Lehtokari VL, Wallgren-Pettersson C, Mehta L, Achiron R, Gilboa Y, Polak-Charcon S, Winder T, Frydman M, Pras E. Yonath H, et al. Prenat Diagn. 2012 Jan;32(1):70-4. doi: 10.1002/pd.2905. Prenat Diagn. 2012. PMID: 22367672

9

Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q.

Dekel-Naftali M, Aviram-Goldring A, Litmanovitch T, Shamash J, Reznik-Wolf H, Laevsky I, Amit M, Itskovitz-Eldor J, Yung Y, Hourvitz A, Schiff E, Rienstein S. Dekel-Naftali M, et al. Eur J Hum Genet. 2012 Dec;20(12):1248-55. doi: 10.1038/ejhg.2012.128. Epub 2012 Jun 20. Eur J Hum Genet. 2012. PMID: 22713809 Free PMC article.

10

Founder mutation for Huntington disease in Caucasus Jews.

Melamed O, Behar DM, Bram C, Magal N, Pras E, Reznik-Wolf H, Borochowitz ZU, Davidov B, Mor-Cohen R, Baris HN. Melamed O, et al. Clin Genet. 2015 Feb;87(2):167-72. doi: 10.1111/cge.12344. Epub 2014 Feb 4. Clin Genet. 2015. PMID: 24405192

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