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332 results

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Page 1
Ordering genetic testing by neurologists: points to consider.
Fellner A, Goldberg Y, Basel-Salmon L. Fellner A, et al. Among authors: goldberg y. J Neurol. 2023 Aug;270(8):3714-3722. doi: 10.1007/s00415-023-11758-3. Epub 2023 May 8. J Neurol. 2023. PMID: 37154893 Review.
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. Among authors: goldberg y. 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
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. Among authors: goldberg y. 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
Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A.
Lieberman S, Beeri R, Walsh T, Schechter M, Keret D, Half E, Gulsuner S, Tomer A, Jacob H, Cohen S, Basel-Salmon L, Mansur M, Berger R, Katz LH, Golomb E, Peretz T, Levy Z, Kedar I, King MC, Levy-Lahad E, Goldberg Y. Lieberman S, et al. Among authors: goldberg y. Clin Transl Gastroenterol. 2019 Jul;10(7):e00054. doi: 10.14309/ctg.0000000000000054. Clin Transl Gastroenterol. 2019. PMID: 31259752 Free PMC article.
The rare 13q33-q34 microdeletions: eight new patients and review of the literature.
Sagi-Dain L, Goldberg Y, Peleg A, Sukenik-Halevy R, Sofrin-Drucker E, Appelman Z, Josefsberg BYS, Ben-Shachar S, Vinkler C, Basel-Salmon L, Maya I. Sagi-Dain L, et al. Among authors: goldberg y. Hum Genet. 2019 Oct;138(10):1145-1153. doi: 10.1007/s00439-019-02048-y. Epub 2019 Jul 18. Hum Genet. 2019. PMID: 31321490 Review.
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. Among authors: goldberg y. 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
Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.
Toledano H, Orenstein N, Sofrin E, Ruhrman-Shahar N, Amarilyo G, Basel-Salmon L, Shuldiner AR, Smirin-Yosef P, Aronson M, Al-Tarrah H, Bazak L, Gonzaga-Jauregui C, Tabori U, Wimmer K, Goldberg Y. Toledano H, et al. Among authors: goldberg y. J Med Genet. 2020 Jul;57(7):505-508. doi: 10.1136/jmedgenet-2019-106303. Epub 2019 Sep 9. J Med Genet. 2020. PMID: 31501241
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.
Michaelson-Cohen R, Salzer-Sheelo L, Sukenik-Halevy R, Koifman A, Fellner A, Reches A, Marom D, Behar DM, Sofrin-Drucker E, Zaks-Hoffer G, Weiss-Hubshmann M, Oresntein N, Kropach-Gilad N, Rhurman-Shahar N, Averbuch NS, Magal N, Bazak L, Josefberg S, Matar R, Goldberg Y, Shohat M, Basel-Salmon L, Maya I. Michaelson-Cohen R, et al. Among authors: goldberg y. Genet Med. 2020 Oct;22(10):1703-1709. doi: 10.1038/s41436-020-0868-4. Epub 2020 Jul 3. Genet Med. 2020. PMID: 32616942 Free article.
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.
Basel-Salmon L, Ruhrman-Shahar N, Orenstein N, Goldberg Y, Gonzaga-Jauregui C, Shuldiner AR, Sukenik-Halevy R, Maya I, Magal N, Hagari O, Azulay N, Lidzbarsky GA, Bazak L. Basel-Salmon L, et al. Among authors: goldberg y. Genet Med. 2021 Jan;23(1):215-221. doi: 10.1038/s41436-020-00938-5. Epub 2020 Aug 17. Genet Med. 2021. PMID: 32801363 Free article.
332 results