Sharony R - Search Results

1

Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor.

Sharony R, Martins S, Costa IPD, Zaltzman R, Amorim A, Sequeiros J, Gordon CR. Sharony R, et al. Eur J Hum Genet. 2019 Nov;27(11):1731-1737. doi: 10.1038/s41431-019-0449-7. Epub 2019 Jun 12. Eur J Hum Genet. 2019. PMID: 31189928 Free PMC article.

2

Spinocerebellar ataxia type 3 in Israel: phenotype and genotype of a Jew Yemenite subpopulation.

Zaltzman R, Sharony R, Klein C, Gordon CR. Zaltzman R, et al. Among authors: sharony r. J Neurol. 2016 Nov;263(11):2207-2214. doi: 10.1007/s00415-016-8251-8. Epub 2016 Aug 8. J Neurol. 2016. PMID: 27502086

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: sharony r. 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

Congenital deficiency of alpha feto-protein.

Sharony R, Zadik I, Parvari R. Sharony R, et al. Eur J Hum Genet. 2004 Oct;12(10):871-4. doi: 10.1038/sj.ejhg.5201246. Eur J Hum Genet. 2004. PMID: 15280901

5

Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome.

Maya I, Kahana S, Agmon-Fishman I, Klein C, Matar R, Berger R, Shohat M, Basel-Salmon L, Sharony R, Sagi-Dain L. Maya I, et al. Among authors: sharony r. Eur J Med Genet. 2020 Oct;63(10):104008. doi: 10.1016/j.ejmg.2020.104008. Epub 2020 Jul 21. Eur J Med Genet. 2020. PMID: 32702406

6

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF. Smith CE, et al. Among authors: sharony r. Eur J Hum Genet. 2016 Nov;24(11):1565-1571. doi: 10.1038/ejhg.2016.62. Epub 2016 Jun 15. Eur J Hum Genet. 2016. PMID: 27302843 Free PMC article.

7

Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin.

Amiel A, Sardos-Albertini F, Fejgin MD, Sharony R, Diukman R, Bartoov B. Amiel A, et al. Among authors: sharony r. J Hum Genet. 2001;46(5):245-50. doi: 10.1007/s100380170073. J Hum Genet. 2001. PMID: 11355013

8

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.

Sharony R, Borochowitz Z, Cohen L, Shtorch-Asor A, Rosenfeld R, Modai S, Reinstein E. Sharony R, et al. Clin Genet. 2017 Dec;92(6):645-648. doi: 10.1111/cge.13020. Epub 2017 Aug 3. Clin Genet. 2017. PMID: 28342220

9

The yield of the prenatal work-up in intrauterine growth restriction and the spectrum of fetal abnormalities detected postnatally ^†.

Sukenik-Halevy R, Katz A, Regev RH, Markovitch O, Sharony R, Ganor Paz Y, Biron-Shental T. Sukenik-Halevy R, et al. Among authors: sharony r. J Matern Fetal Neonatal Med. 2019 Mar;32(5):753-759. doi: 10.1080/14767058.2017.1391776. Epub 2017 Oct 29. J Matern Fetal Neonatal Med. 2019. PMID: 29020825

10

Non-visualization of fetal gallbladder in microarray era - a retrospective cohort study and review of the literature.

Sagi-Dain L, Singer A, Hadid Y, Sharony R, Vinkler C, Bar-Shira A, Segel R, Ben Shachar S, Maya I. Sagi-Dain L, et al. Among authors: sharony r. J Matern Fetal Neonatal Med. 2019 Aug;32(16):2643-2648. doi: 10.1080/14767058.2018.1443070. Epub 2018 Feb 28. J Matern Fetal Neonatal Med. 2019. PMID: 29455582 Review.

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