Search | IOVS | ARVO Journals

iovs

Issues
Topics
For Authors
About
- Editorial Board

Journals Home

MANAGE ALERTS

Access Provided By:
MIT Libraries

Forgot password?

Create an Account

To View More...

Purchase this article with an account.

or

Subscribe Now

Issues
Topics
For Authors
About
- Editorial Board

Narrow View

NARROW

Content Type

Meeting Abstract (9)
Journal Articles (5)

Journal

Investigative Ophthalmology & Visual Science (14)

Article Type

ARVO Annual Meeting Abstract (9)
Genetics (4)
Biochemistry and Molecular Biology (1)

Topics

Genetics (5)
Eye Anatomy and Disorders (3)
Retina (3)
Biochemistry and Molecular Biology (1)
Vitreous Disorders (1)

Tags

mutation (5)
genes (4)
retinitis pigmentosa (3)
family (2)
missense mutation (2)
proteins (2)
whole exome sequencing (2)
arrestin (1)
autosomal recessive inheritance (1)
cohort studies (1)

Specify Date Range

From: To: Apply

Showing 1 – 14 of 14

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

ARVO Annual Meeting Abstract June 2017

Mutations in spliceosome-associated protein homolog CWC27 lead to a spectrum of syndromic and nonsydromic retinal degeneration disease

Rui Chen; mingchu xu; Yajing Xie; Hana Abouzeid; Christopher Gordon; Alessia Fiorentino; Zixi Sun; Anna Lehman; Carmen Ayuso; Alison J Hardcastle; Ruifang Sui; Rando Allikmets; Daniel F Schorderet

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3818.

ARVO Annual Meeting Abstract June 2017

Validating splice altering ‘variants of uncertain significance’ in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene

Justin Branch; Zachary Soens; Yumei Li; Keqing wang; mingchu xu; David G Birch; Fernanda Belga Ottoni Porto; Juliana M F Sallum; Peiquan Zhao; Ruifang Sui; Robert K Koenekoop; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5582.

Biochemistry and Molecular Biology May 2017

A Novel Dominant Mutation in SAG , the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

PDF

Lori S. Sullivan; Sara J. Bowne; Daniel C. Koboldt; Elizabeth L. Cadena; John R. Heckenlively; Kari E. Branham; Dianna H. Wheaton; Kaylie D. Jones; Richard S. Ruiz; Mark E. Pennesi; Paul Yang; David Davis-Boozer; Hope Northrup; Vsevold V. Gurevich; Rui Chen; Mingchu Xu; Yumei Li; David G. Birch; Stephen P. Daiger
TAGS: arrestin, family, genes, mutation, retinitis pigmentosa, hispanics or latinos
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2774-2784. https://doi.org/10.1167/iovs.16-21341

ARVO Annual Meeting Abstract September 2016

Next generation sequencing-based comprehensive molecular diagnosis of retinitis pigmentosa probands in Miami

Jennifer Verriotto; Qi Zhang; Mingchu Xu; Yumei Li; Hui Wang; Lin Gan; Rui Chen; Byron L Lam

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):129.

ARVO Annual Meeting Abstract September 2016

Hypomorphic mutations in RCBTB1 cause autosomal recessive isolated and syndromic inherited retinal dystrophy

Frauke Coppieters; Giulia Ascari; Konstantinos Nikopoulos; Mingchu Xu; Thomas Langmann; Rui Chen; Carlo Rivolta; Christian P Hamel; Bart Peter Leroy; Elfride De Baere

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):637.

ARVO Annual Meeting Abstract September 2016

Phenotypic Variability in RDH12 Retinopathy

Ruifang Sui; Xuan Zou; Zhongqi Ge; Hui Li; Mingchu Xu; Rui Chen; Fangtian Dong

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3138.

ARVO Annual Meeting Abstract September 2016

Comprehensive Molecular Diagnosis of a Large Chinese Patient Cohort With Autosomal Dominant Retinitis Pigmentosa

fei xu; Mingchu Xu; Zixi Sun; Zhongqi Ge; Hui Li; Yumei Li; Lizhu Yang; Hong Zhang; Fangtian Dong; Rui Chen; Ruifang Sui

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3158.

ARVO Annual Meeting Abstract September 2016

Mutations in Receptor Expression Enhancing Protein 6 (REEP6) Cause Early Onset RP in Humans.

Smriti Agrawal; Aiden Eblimit; Feng Wang; Mingchu Xu; Kerry Goetz; Yumei Li; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6586.

Genetics June 2015

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement

PDF

Mingchu Xu; Violet Gelowani; Aiden Eblimit; Feng Wang; Marielle P. Young; Briana L. Sawyer; Li Zhao; Glen Jenkins; Donnell J. Creel; Keqing Wang; Zhongqi Ge; Hui Wang; Yumei Li; M. Elizabeth Hartnett; Rui Chen
TAGS: mutation, photoreceptors, tissue degeneration, proteins, genes, dideoxy chain termination dna sequencing, mice, reverse transcriptase polymerase chain reaction
Invest. Ophthalmol. Vis. Sci.. 2015; 56(6):3889-3895. https://doi.org/10.1167/iovs.15-16778

ARVO Annual Meeting Abstract June 2015

Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients

Cindy Wen; Jason Scott Salvo; Mingchu Xu; Hui Wang; Catherine Shi; Danni Lin; Michael Ai; Hongrong Luo; Rui Chen; Kang Zhang

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1243.

Genetics March 2015

Next-Generation Sequencing and Novel Variant Determination in a Cohort of 92 Familial Exudative Vitreoretinopathy Patients

PDF

Jason Salvo; Vera Lyubasyuk; Mingchu Xu; Hui Wang; Feng Wang; Duy Nguyen; Keqing Wang; Hongrong Luo; Cindy Wen; Catherine Shi; Danni Lin; Kang Zhang; Rui Chen
TAGS: cohort studies, familial exudative vitreoretinopathies, massively-parallel genome sequencing, mutation, genes
Invest. Ophthalmol. Vis. Sci.. 2015; 56(3):1937-1946. https://doi.org/10.1167/iovs.14-16065

Includes: Supplemental Content

Genetics January 2015

A Homozygous Missense Mutation in NEUROD1 Is Associated With Nonsyndromic Autosomal Recessive Retinitis Pigmentosa

PDF

Feng Wang; Huajin Li; Mingchu Xu; Hui Li; Li Zhao; Lizhu Yang; Jacques E. Zaneveld; Keqing Wang; Yumei Li; Ruifang Sui; Rui Chen
TAGS: autosomal recessive inheritance, homozygote, missense mutation, retinitis pigmentosa, mutation, whole exome sequencing, phenotype
Invest. Ophthalmol. Vis. Sci.. 2015; 56(1):150-155. https://doi.org/10.1167/iovs.14-15382

Includes: Supplemental Content

Genetics November 2014

A Missense Mutation in HK1 Leads to Autosomal Dominant Retinitis Pigmentosa

PDF

Feng Wang; Yandong Wang; Bin Zhang; Li Zhao; Vera Lyubasyuk; Keqing Wang; Mingchu Xu; Yumei Li; Frances Wu; Cindy Wen; Paul S. Bernstein; Danni Lin; Susanna Zhu; Hui Wang; Kang Zhang; Rui Chen
TAGS: genetic linkage analysis, missense mutation, mutation, retinitis pigmentosa, whole exome sequencing, proteins, genes, family, hexokinase, retinal diseases
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7159-7164. https://doi.org/10.1167/iovs.14-15520

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

In Search of Novel Disease-Causing Genes of Familial Exudative Vitreoretinopathy (FEVR) - a Genetically Heterogeneous Eye Disease

Mingchu Xu; Jason S Salvo; Hui Wang; Keqing Wang; Yumei Li; Duy H Nguyen; Hongrong Luo; Kang Zhang; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6429.

« Previous

Advertisement

Follow @ARVOiovs

IOVS Home
Issues
Topics
For Authors
About
- Editorial Board

Online ISSN: 1552-5783

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

JOURNALS HOME
TOPICS
ABOUT ARVO JOURNALS

Copyright © 2025 Association for Research in Vision and Ophthalmology.

Access Provided By:
MIT Libraries

Forgot password?

To View More...

Purchase this article with an account.

Create an Account

or

Subscribe Now

×

×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×

This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy.Accept