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Meeting Abstract (8)
Journal Articles (3)

Journal

Investigative Ophthalmology & Visual Science (11)

Article Type

ARVO Annual Meeting Abstract (8)
Lens (2)
Cornea (1)

Topics

Genetics (3)
Eye Anatomy and Disorders (2)
Lens (2)
Cornea (1)

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family (3)
autosomal recessive inheritance (2)
genes (2)
mutation, nonsense (2)
cataract (1)
congenital cataract (1)
dna (1)
ehlers-danlos syndrome 6b (1)
genes, vif (1)
haplotypes (1)

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ARVO Annual Meeting Abstract July 2019

Clinical and genetic characterization of Pseudoxanthoma Elasticum patients

Iyar Sheps; Chen Weiner; Nadav Shoshany; Eran Pras

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):404. doi:

ARVO Annual Meeting Abstract July 2018

Carrier Frequency Analysis of Mutations Causing Recessive Inherited Retinal Diseases in the Israeli Population

Dror Sharon; Gilad Allon; Adva Kimchi; Anat Blumenfeld; Hadas Newman; Eran Pras; Libe Gradstein; Eyal Banin; Tamar Ben-Yosef; Mor Hanany

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3494. doi:

ARVO Annual Meeting Abstract June 2017

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects

Adva Kimchi; Samer Khateb; Rong Wen; Ziqiang Guan; Eran Pras; Shoshi Kurtzman; Samuel G Jacobson; Hadas Newman; Tamar Ben-Yosef; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):570. doi:

ARVO Annual Meeting Abstract June 2017

The Israeli Inherited Retinal Diseases Consortium (IIRDC): Mapping Inherited Retinal Diseases in the Israeli Population

Dror Sharon; Tamar Ben-Yosef; Nitza Goldenberg-Cohen; Libe Gradstein; Eran Pras; Anan Abbasi; Noam Shomron; Eedy Mezer; Miriam Ehrenberg; Shiri Zayit-Soudry; Hadas Newman; Rina Leibu; Ygal Rotenstreich; Haim Levy; Eyal Banin; Ido Perlman

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1238. doi:

ARVO Annual Meeting Abstract June 2017

Reversal of Cystoid Macular Edema in Gyrate Atrophy Patients

Dan Heller; Chen Weiner; Iris Nasie; Yair Anikster; Yuval Landau; Tal Koren; Russell Pokroy; Adi Abulafia; Eran Pras

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3217. doi:

ARVO Annual Meeting Abstract June 2017

Retinitis pigmentosa-associated cystoid macular edema has inflammatory optical density characteristics

Tomer Batash; Hadas Newman; Adiel Barak; Shiri Zayit-Soudry; Eran Pras; Eyal Banin; Michael Politis; Anat Loewenstein; Meira Neudorfer

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3236. doi:

ARVO Annual Meeting Abstract September 2016

Whole exome sequencing reveals a homozygous splicing mutation in CEP78 as the cause of atypical Usher syndrome in Eastern Jewish patients

Dror Sharon; Prasanthi Namburi; Rinki Ratnapriya; Csilla Lazar; Alexey Obolensky; Tamar Ben-Yosef; Eran Pras; Menachem Gross; Eyal Banin; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3153. doi:

ARVO Annual Meeting Abstract March 2012

FYCO1 Mutations And Function In Autosomal Recessive Congenital Cataract

James F. Hejtmancik; Jianjun Chen; Zhiwei Ma; Xiaodong Jiao; Wanda L. Kantorow; Eran Pras; Moshe Frydman; Sheikh Riazuddin; Marc Kantorow; S. Amer Riazuddin

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1054. doi:

Cornea December 2006

Mapping of a Gene Causing Brittle Cornea Syndrome in Tunisian Jews to 16q24

PDF

Almogit Abu; Moshe Frydman; Dina Marek; Eran Pras; Chaim Stolovitch; Ayala Aviram-Goldring; Shlomit Rienstein; Haike Reznik-Wolf; Elon Pras
TAGS: dna, ehlers-danlos syndrome 6b, genes, genes, vif, jews, family, haplotypes
Invest. Ophthalmol. Vis. Sci.. 2006; 47(12):5283-5287. doi: https://doi.org/10.1167/iovs.06-0206

Lens June 2004

A Nonsense Mutation in the Glucosaminyl ( N -acetyl) Transferase 2 Gene ( GCNT2 ): Association with Autosomal Recessive Congenital Cataracts

PDF

Eran Pras; Judith Raz; Vered Yahalom; Moshe Frydman; Hanna J. Garzozi; Elon Pras; J. Fielding Hejtmancik
TAGS: autosomal recessive inheritance, congenital cataract, genes, mutation, nonsense, transferase, family, polymerase chain reaction
Invest. Ophthalmol. Vis. Sci.. 2004; 45(6):1940-1945. doi: https://doi.org/10.1167/iovs.03-1117

Lens October 2000

A Nonsense Mutation (W9X) in CRYAA Causes Autosomal Recessive Cataract in an Inbred Jewish Persian Family

PDF

Eran Pras; Moshe Frydman; Etgar Levy–Nissenbaum; Tengiz Bakhan; Judith Raz; Ehud I. Assia; Boleslaw Goldman; Elon Pras
TAGS: autosomal recessive inheritance, cataract, family, judaism, mutation, nonsense
Invest. Ophthalmol. Vis. Sci.. 2000; 41(11):3511-3515. doi:

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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