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Page 1
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Beryozkin A, Shevah E, Kimchi A, Mizrahi-Meissonnier L, Khateb S, Ratnapriya R, Lazar CH, Blumenfeld A, Ben-Yosef T, Hemo Y, Pe'er J, Averbuch E, Sagi M, Boleda A, Gieser L, Zlotogorski A, Falik-Zaccai T, Alimi-Kasem O, Jacobson SG, Chowers I, Swaroop A, Banin E, Sharon D. Beryozkin A, et al. Among authors: sagi m. Sci Rep. 2015 Aug 26;5:13187. doi: 10.1038/srep13187. Sci Rep. 2015. PMID: 26306921 Free PMC article.
Variability of Stickler syndrome.
Zlotogora J, Sagi M, Schuper A, Leiba H, Merin S. Zlotogora J, et al. Among authors: sagi m. Am J Med Genet. 1992 Feb 1;42(3):337-9. doi: 10.1002/ajmg.1320420316. Am J Med Genet. 1992. PMID: 1536174
Cystic fibrosis mutations in Israeli Arab patients.
Laufer-Cahana A, Lerer I, Sagi M, Rachmilewitz-Minei T, Zamir C, Rivlin JR, Abeliovich D. Laufer-Cahana A, et al. Among authors: sagi m. Hum Mutat. 1999 Dec;14(6):543. doi: 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU16>3.0.CO;2-V. Hum Mutat. 1999. PMID: 10571955
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.
Mutation spectrum in HNPCC in the Israeli population.
Goldberg Y, Porat RM, Kedar I, Shochat C, Sagi M, Eilat A, Mendelson S, Hamburger T, Nissan A, Hubert A, Kadouri L, Pikarski E, Lerer I, Abeliovich D, Bercovich D, Peretz T. Goldberg Y, et al. Among authors: sagi m. Fam Cancer. 2008;7(4):309-17. doi: 10.1007/s10689-008-9191-y. Epub 2008 Apr 4. Fam Cancer. 2008. PMID: 18389388
Familial hydrocephalus of prenatal onset.
Zlotogora J, Sagi M, Cohen T. Zlotogora J, et al. Among authors: sagi m. Am J Med Genet. 1994 Jan 15;49(2):202-4. doi: 10.1002/ajmg.1320490208. Am J Med Genet. 1994. PMID: 8116668
168 results