Ben-Shachar S - Search Results

1

Genetic markers of Restless Legs Syndrome in Parkinson disease.

Gan-Or Z, Alcalay RN, Bar-Shira A, Leblond CS, Postuma RB, Ben-Shachar S, Waters C, Johnson A, Levy O, Mirelman A, Gana-Weisz M, Dupré N, Montplaisir J, Giladi N, Fahn S, Xiong L, Dion PA, Orr-Urtreger A, Rouleau GA. Gan-Or Z, et al. Parkinsonism Relat Disord. 2015 Jun;21(6):582-5. doi: 10.1016/j.parkreldis.2015.03.010. Epub 2015 Mar 17. Parkinsonism Relat Disord. 2015. PMID: 25817513 Free PMC article.

2

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.

Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR. Liu P, et al. Am J Hum Genet. 2014 Mar 6;94(3):462-9. doi: 10.1016/j.ajhg.2014.01.017. Epub 2014 Feb 13. Am J Hum Genet. 2014. PMID: 24530202 Free PMC article.

3

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.

Weiss K, Orr-Urtreger A, Kaplan Ber I, Naiman T, Shomrat R, Bardugu E, Yaron Y, Ben-Shachar S. Weiss K, et al. Genet Med. 2014 Dec;16(12):940-4. doi: 10.1038/gim.2014.64. Epub 2014 May 29. Genet Med. 2014. PMID: 24875300 Free article.

4

Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.

Ben-Shachar S, Afawi Z, Masalha R, Badarny S, Neiman T, Pavzner D, Bar-Shira A, Orr-Urtreger A. Ben-Shachar S, et al. J Mol Neurosci. 2017 Oct;63(2):216-222. doi: 10.1007/s12031-017-0972-3. Epub 2017 Sep 15. J Mol Neurosci. 2017. PMID: 28913705

5

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. 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 Free article. Review.

6

Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1-Related Disease.

Avnon T, Svirsky R, Orr-Urtreger A, Sagie L, Fattal-Valevski A, Fellig Y, Ben-Shachar S. Avnon T, et al. J Pediatr Genet. 2020 Jun;9(2):121-124. doi: 10.1055/s-0039-1698445. Epub 2019 Oct 21. J Pediatr Genet. 2020. PMID: 32341817 Free PMC article.

7

The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies.

Sagi-Dain L, Singer A, Falik-Zaccai T, Peleg A, Bar-Shira A, Feingold-Zadok M, Ben Shachar S, Maya I. Sagi-Dain L, et al. Arch Gynecol Obstet. 2021 Sep;304(3):649-656. doi: 10.1007/s00404-021-05995-y. Epub 2021 Feb 16. Arch Gynecol Obstet. 2021. PMID: 33591382

8

A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.

Reinstein E, Smirin-Yosef P, Lagovsky I, Davidov B, Peretz Amit G, Neumann D, Orr-Urtreger A, Ben-Shachar S, Basel-Vanagaite L. Reinstein E, et al. Mol Genet Metab. 2016 Jan;117(1):38-41. doi: 10.1016/j.ymgme.2015.11.011. Epub 2015 Nov 26. Mol Genet Metab. 2016. PMID: 26653794

9

Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.

Hausman-Kedem M, Ben-Sira L, Kidron D, Ben-Shachar S, Straussberg R, Marom D, Ponger P, Bar-Shira A, Malinger G, Fattal-Valevski A. Hausman-Kedem M, et al. Eur J Hum Genet. 2021 Nov;29(11):1654-1662. doi: 10.1038/s41431-021-00880-3. Epub 2021 Apr 9. Eur J Hum Genet. 2021. PMID: 33837277 Free PMC article.

10

Fever-induced Brugada pattern: how common is it and what does it mean?

Adler A, Topaz G, Heller K, Zeltser D, Ohayon T, Rozovski U, Halkin A, Rosso R, Ben-Shachar S, Antzelevitch C, Viskin S. Adler A, et al. Heart Rhythm. 2013 Sep;10(9):1375-82. doi: 10.1016/j.hrthm.2013.07.030. Epub 2013 Jul 19. Heart Rhythm. 2013. PMID: 23872691 Free PMC article.

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