Sharony R - Search Results

1

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

2

Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome.

Sharony R, Kidron D, Amiel A, Fejgin M, Borochowitz ZU. Sharony R, et al. Clin Genet. 2002 May;61(5):369-74. doi: 10.1034/j.1399-0004.2002.610509.x. Clin Genet. 2002. PMID: 12081722

3

Chromosomal microarray analysis in fetuses with aberrant right subclavian artery.

Maya I, Kahana S, Yeshaya J, Tenne T, Yacobson S, Agmon-Fishman I, Cohen-Vig L, Levi A, Reinstein E, Basel-Vanagaite L, Sharony R. Maya I, et al. Among authors: sharony r. Ultrasound Obstet Gynecol. 2017 Mar;49(3):337-341. doi: 10.1002/uog.15935. Ultrasound Obstet Gynecol. 2017. PMID: 27063194 Free article.

4

Genomic Alterations Are Enhanced in Placentas from Pregnancies with Fetal Growth Restriction and Preeclampsia: Preliminary Results.

Biron-Shental T, Sharony R, Shtorch-Asor A, Keiser M, Sadeh-Mestechkin D, Laish I, Amiel A. Biron-Shental T, et al. Among authors: sharony r. Mol Syndromol. 2016 Feb;6(6):276-80. doi: 10.1159/000444064. Epub 2016 Jan 27. Mol Syndromol. 2016. PMID: 27022328 Free PMC article.

5

The association between maternal serum first trimester free βhCG, second trimester intact hCG levels and foetal growth restriction and preeclampsia.

Sharony R, Sharon-Weiner M, Kidron D, Sukenik-Halevy R, Biron-Shental T, Manor M, Reinstein E, Maymon R. Sharony R, et al. J Obstet Gynaecol. 2018 Apr;38(3):363-366. doi: 10.1080/01443615.2017.1340441. Epub 2018 Jan 31. J Obstet Gynaecol. 2018. PMID: 29385871

6

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.

7

Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies.

Marcus-Braun N, Birk O, Manor E, Segal D, Harari G, Toma I, Shalev S, Borochowitz ZU, Yaron Y, Sharony R, Itzhaky D, Shtoyerman R, Appelman Z, Braun G. Marcus-Braun N, et al. Among authors: sharony r. Prenat Diagn. 2009 Dec;29(12):1130-4. doi: 10.1002/pd.2366. Prenat Diagn. 2009. PMID: 19777489

8

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

9

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

10

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.

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