Search | IOVS | ARVO Journals

iovs

Issues
Topics
For Authors
About
- Editorial Board
- Subscriptions

Journals Home

SIGN IN

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
- Subscriptions

Narrow View

NARROW

Content Type

Journal Articles (2)
Meeting Abstract (1)

Journal

Investigative Ophthalmology & Visual Science (3)

Article Type

Genetics (2)
ARVO Annual Meeting Abstract (1)

Topics

Eye Anatomy and Disorders (2)
Genetics (2)
Retina (2)

Tags

autosomal recessive inheritance (2)
mutation (2)
phenotype (2)
de novo mutation (1)
electroretinography (1)
eye (1)
family (1)
genes (1)
genetics (1)
language morphology (1)

Specify Date Range

From: To: Apply

Showing 1 – 3 of 3

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

Genetics August 2017

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

PDF

Christina Gerth-Kahlert; Amit Tiwari; James V. M. Hanson; Vaishnavi Batmanabane; Elias Traboulsi; Mark E. Pennesi; Abdullah A. Al-Qahtani; Byron L. Lam; John Heckenlively; Sandrine A. Zweifel; Ajoy Vincent; Fabienne Fierz; Daniel Barthelmes; Kari Branham; Naheed Khan; Angela Bahr; Luzy Baehr; István Magyar; Samuel Koller; Silvia Azzarello-Burri; Dunja Niedrist; Elise Heon; Wolfgang Berger
TAGS: phenotype, mutation, genes, retinitis pigmentosa, autosomal recessive inheritance, macular disorders, morphology, de novo mutation, language morphology
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):3840-3850. doi: 10.1167/iovs.17-21597

ARVO Annual Meeting Abstract June 2017

Genotype - phenotype analysis in a family with autosomal dominant retinitis pigmentosa and a mutation in SNRNP200 .

Christina Gerth-Kahlert; Amit Tiwari; Angela Bahr; James V.M. Hanson; Wolfgang Berger

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2767. doi:

Genetics May 2016

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

PDF

Ajoy Vincent; Judith Ng; Christina Gerth-Kahlert; Erika Tavares; Jason T. Maynes; Thomas Wright; Amit Tiwari; Anupreet Tumber; Shuning Li; James V. M. Hanson; Angela Bahr; Heather MacDonald; Luzy Bähr; Carol Westall; Wolfgang Berger; Frans P. M. Cremers; Anneke I. den Hollander; Elise Héon
TAGS: phenotype, mutation, electroretinography, family, relationship - sibling, eye, genetics, autosomal recessive inheritance, retinoschisis
Invest. Ophthalmol. Vis. Sci.. 2016; 57(6):2637-2646. doi: 10.1167/iovs.15-18281

Includes: Supplemental Content

« Previous

Advertisement

Follow @ARVOiovs

IOVS Home
Issues
Topics
For Authors
About
- Editorial Board
- Subscriptions

Online ISSN: 1552-5783

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

JOURNALS HOME
TOPICS
ABOUT ARVO JOURNALS

Copyright © 2015 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