Sharon D - Search Results

1

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.

Weisz Hubshman M, Broekman S, van Wijk E, Cremers F, Abu-Diab A, Khateb S, Tzur S, Lagovsky I, Smirin-Yosef P, Sharon D, Haer-Wigman L, Banin E, Basel-Vanagaite L, de Vrieze E. Weisz Hubshman M, et al. Among authors: sharon d. Hum Mol Genet. 2018 Feb 15;27(4):614-624. doi: 10.1093/hmg/ddx428. Hum Mol Genet. 2018. PMID: 29272404

2

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Rivolta C, et al. Among authors: sharon d. Hum Mol Genet. 2002 May 15;11(10):1219-27. doi: 10.1093/hmg/11.10.1219. Hum Mol Genet. 2002. PMID: 12015282 Review.

3

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL. Sharon D, et al. Am J Hum Genet. 2003 Nov;73(5):1131-46. doi: 10.1086/379379. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564670 Free PMC article.

4

Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

Kaiserman N, Obolensky A, Banin E, Sharon D. Kaiserman N, et al. Among authors: sharon d. Arch Ophthalmol. 2007 Feb;125(2):219-24. doi: 10.1001/archopht.125.2.219. Arch Ophthalmol. 2007. PMID: 17296898

5

A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa.

Banin E, Mizrahi-Meissonnier L, Neis R, Silverstein S, Magyar I, Abeliovich D, Roepman R, Berger W, Rosenberg T, Sharon D. Banin E, et al. Among authors: sharon d. Am J Med Genet A. 2007 Jun 1;143A(11):1150-8. doi: 10.1002/ajmg.a.31642. Am J Med Genet A. 2007. PMID: 17480003

6

A complex expression pattern of Pax6 in the pigeon retina.

Bandah D, Swissa T, Ben-Shlomo G, Banin E, Ofri R, Sharon D. Bandah D, et al. Among authors: sharon d. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2503-9. doi: 10.1167/iovs.06-1014. Invest Ophthalmol Vis Sci. 2007. PMID: 17525177

7

Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease.

Beit-Ya'acov A, Mizrahi-Meissonnier L, Obolensky A, Landau C, Blumenfeld A, Rosenmann A, Banin E, Sharon D. Beit-Ya'acov A, et al. Among authors: sharon d. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4308-14. doi: 10.1167/iovs.07-0244. Invest Ophthalmol Vis Sci. 2007. PMID: 17724221

8

A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.

Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T. Auslender N, et al. Among authors: sharon d. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5431-8. doi: 10.1167/iovs.07-0736. Invest Ophthalmol Vis Sci. 2007. PMID: 18055789

9

A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.

Bandah D, Rosenmann A, Blumenfeld A, Averbukh E, Banin E, Sharon D. Bandah D, et al. Among authors: sharon d. Mol Vis. 2008 Jan 28;14:142-5. Mol Vis. 2008. PMID: 18334930 Free PMC article.

10

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

Auslender N, Bandah D, Rizel L, Behar DM, Shohat M, Banin E, Allon-Shalev S, Sharony R, Sharon D, Ben-Yosef T. Auslender N, et al. Among authors: sharon d. Genet Test. 2008 Jun;12(2):289-94. doi: 10.1089/gte.2007.0107. Genet Test. 2008. PMID: 18452394

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