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Page 1
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.
Orenstein N, Goldberg-Stern H, Straussberg R, Bazak L, Weisz Hubshman M, Kropach N, Gilad O, Scheuerman O, Dory Y, Kraus D, Tzur S, Magal N, Kilim Y, Shkalim Zemer V, Basel-Salmon L. Orenstein N, et al. Eur J Paediatr Neurol. 2018 May;22(3):516-524. doi: 10.1016/j.ejpn.2017.12.017. Epub 2017 Dec 30. Eur J Paediatr Neurol. 2018. PMID: 29422393
The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
Barnes-Kedar I, Bernstein-Molho R, Ginzach N, Hartmajer S, Shapira T, Magal N, Kalis ML, Peretz T, Shohat M, Basel-Salmon L, Friedman E, Bazak L, Goldberg Y. Barnes-Kedar I, et al. Breast Cancer Res Treat. 2018 Nov;172(1):151-157. doi: 10.1007/s10549-018-4887-7. Epub 2018 Jul 16. Breast Cancer Res Treat. 2018. PMID: 30014164
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.
Weisz-Hubshman M, Meirson H, Michaelson-Cohen R, Beeri R, Tzur S, Bormans C, Modai S, Shomron N, Shilon Y, Banne E, Orenstein N, Konen O, Marek-Yagel D, Veber A, Shalva N, Imagawa E, Matsumoto N, Lev D, Lerman Sagie T, Raas-Rothschild A, Ben-Zeev B, Basel-Salmon L, Behar DM, Heimer G. Weisz-Hubshman M, et al. Eur J Paediatr Neurol. 2019 May;23(3):418-426. doi: 10.1016/j.ejpn.2019.02.003. Epub 2019 Feb 19. Eur J Paediatr Neurol. 2019. PMID: 30853297
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstien M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H. Paperna T, et al. J Med Genet. 2020 Jul;57(7):500-504. doi: 10.1136/jmedgenet-2018-105824. Epub 2019 Mar 11. J Med Genet. 2020. PMID: 30858171
The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
Bernstein-Molho R, Barnes-Kedar I, Ludman MD, Reznik G, Feldman HB, Samra NN, Eilat A, Peretz T, Peretz LP, Shapira T, Magal N, Kalis ML, Yerushalmi R, Vinkler C, Liberman S, Basel-Salmon L, Shohat M, Levy-Lahad E, Friedman E, Bazak L, Goldberg Y. Bernstein-Molho R, et al. Breast Cancer Res Treat. 2019 Nov;178(1):231-237. doi: 10.1007/s10549-019-05379-6. Epub 2019 Jul 31. Breast Cancer Res Treat. 2019. PMID: 31368036
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM; Regeneron Genetics Center; Torti E, Lee JA, Boycott KM, Basel-Salmon L, Ferreira CR, Gonzaga-Jauregui C. Bend R, et al. Eur J Hum Genet. 2020 Jan;28(1):76-87. doi: 10.1038/s41431-019-0487-1. Epub 2019 Aug 8. Eur J Hum Genet. 2020. PMID: 31395947 Free PMC article.
92 results