Search | IOVS | ARVO Journals

iovs

Issues
Topics
For Authors
About
- Editorial Board
- Subscriptions

Journals Home

SIGN IN

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 (4)
Meeting Abstract (1)

Journal

Investigative Ophthalmology & Visual Science (4)
Translational Vision Science & Technology (1)

Article Type

Genetics (3)
ARVO Annual Meeting Abstract (1)
Articles (1)

Topics

Eye Anatomy and Disorders (4)
Genetics (4)
Retina (3)
Glaucoma (1)
Translational Research (1)

Tags

mutation (3)
phenotype (3)
autosomal recessive inheritance (2)
family (2)
genes (2)
retinitis pigmentosa (2)
cohort studies (1)
de novo mutation (1)
electroretinography (1)
eye (1)

Specify Date Range

From: To: Apply

Showing 1 – 5 of 5

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

Articles June 2020

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes

PDF

Elena Lang; Samuel Koller; Luzy Bähr; Marc Töteberg-Harms; David Atac; Françoise Roulez; Angela Bahr; Katharina Steindl; Silke Feil; Wolfgang Berger; Christina Gerth-Kahlert
TAGS: cohort studies, glaucoma, congenital, whole exome sequencing, glaucoma
Trans. Vis. Sci. Tech.. 2020; 9(7):47. doi: https://doi.org/10.1167/tvst.9.7.47

Includes: Supplemental Content

Genetics July 2019

Genotype–Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa

PDF

Christina Gerth-Kahlert; Samuel Koller; James V. M. Hanson; Luzy Baehr; Amit Tiwari; Fatma Kivrak-Pfiffner; Angela Bahr; Wolfgang Berger
TAGS: family, genotype, phenotype, recurrence, retinitis pigmentosa, missense mutation, mutation, genes, heterozygote, visual acuity
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):2822-2835. doi: https://doi.org/10.1167/iovs.18-25643

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: autosomal recessive inheritance, de novo mutation, genes, mutation, phenotype, retinitis pigmentosa, language morphology, morphology, macular disorders
Invest. Ophthalmol. Vis. Sci.. 2017; 58(10):3840-3850. doi: https://doi.org/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: autosomal recessive inheritance, family, genetics, mutation, phenotype, retinoschisis, eye, relationship - sibling, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2016; 57(6):2637-2646. doi: https://doi.org/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.

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