Shalev SA - Search Results

1

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T. Rizel L, et al. Among authors: shalev sa. Mol Vis. 2011;17:3548-55. Epub 2011 Dec 30. Mol Vis. 2011. PMID: 22219650 Free PMC article.

2

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Cohen B, Chervinsky E, Jabaly-Habib H, Shalev SA, Briscoe D, Ben-Yosef T. Cohen B, et al. Among authors: shalev sa. Mol Vis. 2012;18:2915-21. Epub 2012 Dec 1. Mol Vis. 2012. PMID: 23233793 Free PMC article.

3

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.

Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N, Ben-Yosef T. Nevet MJ, et al. Among authors: shalev sa. J Med Genet. 2010 Aug;47(8):533-7. doi: 10.1136/jmg.2009.073619. Epub 2010 May 27. J Med Genet. 2010. PMID: 20507925

4

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.

Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T. Dvir L, et al. Among authors: shalev sa. Am J Hum Genet. 2010 Aug 13;87(2):258-64. doi: 10.1016/j.ajhg.2010.06.016. Epub 2010 Jul 22. Am J Hum Genet. 2010. PMID: 20655036 Free PMC article.

5

Genetics of hearing loss in the Arab population of Northern Israel.

Danial-Farran N, Brownstein Z, Gulsuner S, Tammer L, Khayat M, Aleme O, Chervinsky E, Zoubi OA, Walsh T, Ast G, King MC, Avraham KB, Shalev SA. Danial-Farran N, et al. Among authors: shalev sa. Eur J Hum Genet. 2018 Dec;26(12):1840-1847. doi: 10.1038/s41431-018-0218-z. Epub 2018 Aug 23. Eur J Hum Genet. 2018. PMID: 30139988 Free PMC article.

6

A homozygous TTN gene variant associated with lethal congenital contracture syndrome.

Chervinsky E, Khayat M, Soltsman S, Habiballa H, Elpeleg O, Shalev S. Chervinsky E, et al. Am J Med Genet A. 2018 Apr;176(4):1001-1005. doi: 10.1002/ajmg.a.38639. Am J Med Genet A. 2018. PMID: 29575618

7

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T. Collin RW, et al. Among authors: shalev sa. Am J Hum Genet. 2010 May 14;86(5):783-8. doi: 10.1016/j.ajhg.2010.03.016. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398884 Free PMC article.

8

A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency.

Fauchereau F, Shalev S, Chervinsky E, Beck-Fruchter R, Legois B, Fellous M, Caburet S, Veitia RA. Fauchereau F, et al. Clin Genet. 2016 May;89(5):603-7. doi: 10.1111/cge.12736. Epub 2016 Feb 10. Clin Genet. 2016. PMID: 26771056

9

The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.

Khayat M, Danial-Farran N, Chervinsky E, Zehavi Y, Peled-Peretz L, Gafni-Amsalem C, Hakrosh S, Abu-Leil Zouabi O, Tamir L, Mamlouk E, Zlotogora J, Shalev SA. Khayat M, et al. Among authors: shalev sa. Clin Genet. 2021 Nov;100(5):522-528. doi: 10.1111/cge.14032. Epub 2021 Aug 23. Clin Genet. 2021. PMID: 34297361

10

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, Shalev SA, Jabaly-Habib H, Goldsher D, Gomori JM, Lossos A, Elpeleg O, Meiner V. Spiegel R, et al. Among authors: shalev sa. Eur J Hum Genet. 2014 Aug;22(8):1019-25. doi: 10.1038/ejhg.2013.284. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424123 Free PMC article.

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