Mizrahi-Meissonnier L - Search Results

1

Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.

Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D. Mizrahi-Meissonnier L, et al. Invest Ophthalmol Vis Sci. 2010 Aug;51(8):3884-92. doi: 10.1167/iovs.09-4592. Epub 2010 Mar 10. Invest Ophthalmol Vis Sci. 2010. PMID: 20220053

2

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

3

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

4

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D. Zelinger L, et al. Am J Hum Genet. 2011 Feb 11;88(2):207-15. doi: 10.1016/j.ajhg.2011.01.002. Epub 2011 Feb 3. Am J Hum Genet. 2011. PMID: 21295282 Free PMC article.

5

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.

Bitner H, Mizrahi-Meissonnier L, Griefner G, Erdinest I, Sharon D, Banin E. Bitner H, et al. Invest Ophthalmol Vis Sci. 2011 Jul 18;52(8):5332-8. doi: 10.1167/iovs.11-7174. Invest Ophthalmol Vis Sci. 2011. PMID: 21467170

6

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.

Carroll J, Dubra A, Gardner JC, Mizrahi-Meissonnier L, Cooper RF, Dubis AM, Nordgren R, Genead M, Connor TB Jr, Stepien KE, Sharon D, Hunt DM, Banin E, Hardcastle AJ, Moore AT, Williams DR, Fishman G, Neitz J, Neitz M, Michaelides M. Carroll J, et al. Among authors: mizrahi meissonnier l. Invest Ophthalmol Vis Sci. 2012 Dec 5;53(13):8006-15. doi: 10.1167/iovs.12-11087. Invest Ophthalmol Vis Sci. 2012. PMID: 23139274 Free PMC article.

7

Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.

Sharon D, Al-Hamdani S, Engelsberg K, Mizrahi-Meissonnier L, Obolensky A, Banin E, Sander B, Jensen H, Larsen M, Schatz P. Sharon D, et al. Among authors: mizrahi meissonnier l. Am J Ophthalmol. 2014 Mar;157(3):697-709.e1-2. doi: 10.1016/j.ajo.2013.12.010. Epub 2013 Dec 15. Am J Ophthalmol. 2014. PMID: 24345323

8

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

Lazar CH, Mutsuddi M, Kimchi A, Zelinger L, Mizrahi-Meissonnier L, Marks-Ohana D, Boleda A, Ratnapriya R, Sharon D, Swaroop A, Banin E. Lazar CH, et al. Among authors: mizrahi meissonnier l. Invest Ophthalmol Vis Sci. 2014 Dec 16;56(1):420-30. doi: 10.1167/iovs.14-15647. Invest Ophthalmol Vis Sci. 2014. PMID: 25515582 Free PMC article.

9

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D. Shevach E, et al. Among authors: mizrahi meissonnier l. JAMA Ophthalmol. 2015 Mar;133(3):312-8. doi: 10.1001/jamaophthalmol.2014.5251. JAMA Ophthalmol. 2015. PMID: 25541840

10

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe'er J, Merin S, Ben-Yosef T, Ashery-Padan R, Banin E, Sharon D. Bandah-Rozenfeld D, et al. Am J Hum Genet. 2010 Sep 10;87(3):382-91. doi: 10.1016/j.ajhg.2010.07.022. Epub 2010 Aug 12. Am J Hum Genet. 2010. PMID: 20705279 Free PMC article.

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