Banin E - Search Results

1

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; European Retinal Disease Consortium; den Hollander AI, Klevering BJ, Cremers FP. Estrada-Cuzcano A, et al. Among authors: banin e. Am J Hum Genet. 2012 Jan 13;90(1):102-9. doi: 10.1016/j.ajhg.2011.11.015. Epub 2011 Dec 15. Am J Hum Genet. 2012. PMID: 22177090 Free PMC article.

2

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

White DR, Ganesh A, Nishimura D, Rattenberry E, Ahmed S, Smith UM, Pasha S, Raeburn S, Trembath RC, Rajab A, Macdonald F, Banin E, Stone EM, Johnson CA, Sheffield VC, Maher ER. White DR, et al. Among authors: banin e. Eur J Hum Genet. 2007 Feb;15(2):173-8. doi: 10.1038/sj.ejhg.5201736. Epub 2006 Nov 15. Eur J Hum Genet. 2007. PMID: 17106446

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: banin e. 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. 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

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: banin e. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4308-14. doi: 10.1167/iovs.07-0244. Invest Ophthalmol Vis Sci. 2007. PMID: 17724221

6

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: banin e. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5431-8. doi: 10.1167/iovs.07-0736. Invest Ophthalmol Vis Sci. 2007. PMID: 18055789

7

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: banin e. Mol Vis. 2008 Jan 28;14:142-5. Mol Vis. 2008. PMID: 18334930 Free PMC article.

8

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: banin e. Genet Test. 2008 Jun;12(2):289-94. doi: 10.1089/gte.2007.0107. Genet Test. 2008. PMID: 18452394

9

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: banin e. Arch Ophthalmol. 2009 Mar;127(3):297-302. doi: 10.1001/archophthalmol.2008.615. Arch Ophthalmol. 2009. PMID: 19273793

10

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.

Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF. Parry DA, et al. Among authors: banin e. Am J Hum Genet. 2009 May;84(5):683-91. doi: 10.1016/j.ajhg.2009.04.005. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409519 Free PMC article.

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