Frydman M - Search Results

1

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. Among authors: frydman m. 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.

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

3

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF. Chen J, et al. Among authors: frydman m. Am J Hum Genet. 2011 Jun 10;88(6):827-838. doi: 10.1016/j.ajhg.2011.05.008. Am J Hum Genet. 2011. PMID: 21636066 Free PMC article.

4

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. Among authors: frydman m. 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.

5

X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.

Yonath H, Marek-Yagel D, Resnik-Wolf H, Abu-Horvitz A, Baris HN, Shohat M, Frydman M, Pras E. Yonath H, et al. Among authors: frydman m. J Appl Genet. 2011 Nov;52(4):437-41. doi: 10.1007/s13353-011-0052-2. Epub 2011 May 17. J Appl Genet. 2011. PMID: 21584729

6

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. Among authors: frydman m. Hum Genet. 2002 Aug;111(2):214-8. doi: 10.1007/s00439-002-0770-y. Epub 2002 Jul 16. Hum Genet. 2002. PMID: 12189496

7

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.

Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E. Zlotogorski A, et al. Among authors: frydman m. J Invest Dermatol. 2006 Jun;126(6):1292-6. doi: 10.1038/sj.jid.5700251. J Invest Dermatol. 2006. PMID: 16575393 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. Among authors: frydman m. Prenat Diagn. 2012 Jan;32(1):70-4. doi: 10.1002/pd.2905. Prenat Diagn. 2012. PMID: 22367672

9

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthórsson AÖ, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB. Brownstein Z, et al. Among authors: frydman m. Clin Genet. 2020 Oct;98(4):353-364. doi: 10.1111/cge.13817. Epub 2020 Aug 24. Clin Genet. 2020. PMID: 33111345 Free PMC article.

10

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. Among authors: frydman m. Eur J Dermatol. 2005 Sep-Oct;15(5):339-40. Eur J Dermatol. 2005. PMID: 16172040

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