Mizrahi-Meissonnier L - Search Results

1

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

2

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

3

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.

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

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

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. 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 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

8

Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.

Bitner H, Schatz P, Mizrahi-Meissonnier L, Sharon D, Rosenberg T. Bitner H, et al. Among authors: mizrahi meissonnier l. Am J Ophthalmol. 2012 Aug;154(2):403-412.e4. doi: 10.1016/j.ajo.2012.02.036. Epub 2012 May 24. Am J Ophthalmol. 2012. PMID: 22633354 Free article.

9

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

10

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.

Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D. Khateb S, et al. Among authors: mizrahi meissonnier l. J Med Genet. 2014 Jul;51(7):460-9. doi: 10.1136/jmedgenet-2014-102287. Epub 2014 Apr 29. J Med Genet. 2014. PMID: 24780881

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