Sharon D - Search Results

1

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.

Sangermano R, Deitch I, Peter VG, Ba-Abbad R, Place EM, Zampaglione E, Wagner NE, Fulton AB, Coutinho-Santos L, Rosin B, Dunet V, AlTalbishi A, Banin E, Sousa AB, Neves M, Larson A, Quinodoz M, Michaelides M, Ben-Yosef T, Pierce EA, Rivolta C, Webster AR, Arno G, Sharon D, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: sharon d. NPJ Genom Med. 2021 Jun 29;6(1):53. doi: 10.1038/s41525-021-00214-8. NPJ Genom Med. 2021. PMID: 34188062 Free PMC article.

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

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

4

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

5

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

6

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

7

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

8

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.

9

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

10

The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.

Bandah D, Merin S, Ashhab M, Banin E, Sharon D. Bandah D, et al. Among authors: sharon d. Arch Ophthalmol. 2009 Mar;127(3):297-302. doi: 10.1001/archophthalmol.2008.615. Arch Ophthalmol. 2009. PMID: 19273793

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