Sagi M - Search Results

1

The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

Brownstein Z, Ben-Yosef T, Dagan O, Frydman M, Abeliovich D, Sagi M, Abraham FA, Taitelbaum-Swead R, Shohat M, Hildesheimer M, Friedman TB, Avraham KB. Brownstein Z, et al. Among authors: sagi m. Pediatr Res. 2004 Jun;55(6):995-1000. doi: 10.1203/01.PDR.0000125258.58267.56. Epub 2004 Mar 17. Pediatr Res. 2004. PMID: 15028842

2

Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.

Quint A, Lerer I, Sagi M, Abeliovich D. Quint A, et al. Among authors: sagi m. Am J Med Genet A. 2005 Jul 30;136(3):246-8. doi: 10.1002/ajmg.a.30823. Am J Med Genet A. 2005. PMID: 15948195

3

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: sagi 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.

4

Genetic testing for hearing loss: different motivations for the same outcome.

Dagan O, Hochner H, Levi H, Raas-Rothschild A, Sagi M. Dagan O, et al. Among authors: sagi m. Am J Med Genet. 2002 Nov 22;113(2):137-43. doi: 10.1002/ajmg.10676. Am J Med Genet. 2002. PMID: 12407703

5

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D. Lerer I, et al. Among authors: sagi m. Am J Med Genet. 2000 Nov 6;95(1):53-6. doi: 10.1002/1096-8628(20001106)95:1<53::aid-ajmg11>3.0.co;2-2. Am J Med Genet. 2000. PMID: 11074495

6

Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

Lerer I, Sagi M, Cutting GR, Abeliovich D. Lerer I, et al. Among authors: sagi m. J Med Genet. 1992 Feb;29(2):131-3. doi: 10.1136/jmg.29.2.131. J Med Genet. 1992. PMID: 1377276 Free PMC article.

7

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D. Lerer I, et al. Among authors: sagi m. Hum Mutat. 2001 Nov;18(5):460. doi: 10.1002/humu.1222. Hum Mutat. 2001. PMID: 11668644

8

The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.

Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, Zlotogora J, Heching N, Peretz T. Abeliovich D, et al. Among authors: sagi m. Am J Hum Genet. 1997 Mar;60(3):505-14. Am J Hum Genet. 1997. PMID: 9042909 Free PMC article.

9

Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutations.

Segel R, Silverstein S, Lerer I, Kahana E, Meir R, Sagi M, Zilber N, Korczyn AD, Shapira Y, Argov Z, Abeliovich D. Segel R, et al. Among authors: sagi m. Am J Med Genet A. 2003 Jun 15;119A(3):273-8. doi: 10.1002/ajmg.a.20177. Am J Med Genet A. 2003. PMID: 12784291

10

Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.

Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D. Silverstein S, et al. Among authors: sagi m. Prenat Diagn. 2002 Aug;22(8):649-51. doi: 10.1002/pd.370. Prenat Diagn. 2002. PMID: 12210570

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