Frydman M - Search Results

1

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.

Eliyahu A, Barel O, Greenbaum L, Zaks Hoffer G, Goldberg Y, Raas-Rothschild A, Singer A, Bar-Joseph I, Kunik V, Javasky E, Staretz-Chacham O, Pode-Shakked N, Bazak L, Ruhrman-Shahar N, Pras E, Frydman M, Shohat M, Pode-Shakked B. Eliyahu A, et al. Among authors: frydman m. Front Pediatr. 2022 Mar 30;10:844845. doi: 10.3389/fped.2022.844845. eCollection 2022. Front Pediatr. 2022. PMID: 35433545 Free PMC article.

2

Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant.

Hamiel OP, Raas-Rothschild A, Upadhyaya M, Frydman M, Sarova-Pinhas I, Brand N, Passwell JH. Hamiel OP, et al. Among authors: frydman m. J Pediatr. 1993 Sep;123(3):431-4. doi: 10.1016/s0022-3476(05)81752-4. J Pediatr. 1993. PMID: 8355122

3

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

4

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.

5

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

6

The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis.

Peleg L, Karpati M, Bronstein S, Berkenstadt M, Frydman M, Yonath H, Pras E. Peleg L, et al. Among authors: frydman m. J Med Screen. 2011;18(4):169-72. doi: 10.1258/jms.2011.011044. Epub 2011 Dec 7. J Med Screen. 2011. PMID: 22156145

7

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.

8

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

Brownstein Z, Abu-Rayyan A, Karfunkel-Doron D, Sirigu S, Davidov B, Shohat M, Frydman M, Houdusse A, Kanaan M, Avraham KB. Brownstein Z, et al. Among authors: frydman m. Eur J Hum Genet. 2014 Jun;22(6):768-75. doi: 10.1038/ejhg.2013.232. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105371 Free PMC article.

9

Megalocornea, macrocephaly, mental and motor retardation (MMMM).

Frydman M, Berkenstadt M, Raas-Rothschild A, Goodman RM. Frydman M, et al. Clin Genet. 1990 Aug;38(2):149-54. doi: 10.1111/j.1399-0004.1990.tb03564.x. Clin Genet. 1990. PMID: 2208767

10

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

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