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 (13)
Journal Articles (2)

Journal

Investigative Ophthalmology & Visual Science (15)

Article Type

ARVO Annual Meeting Abstract (13)
Genetics (1)
Retina (1)

Topics

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

Tags

family (2)
atrophy (1)
collagen (1)
eye (1)
immunohistochemistry (1)
macular disorders (1)
macular dystrophy (1)
mutation (1)
phenotype (1)
proteins (1)

Specify Date Range

From: To: Apply

Showing 1 – 15 of 15

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

Genetics March 2022

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family

PDF

Veronika Vaclavik; Leila Tiab; Young Joo Sun; Vinit B. Mahajan; Alexandre Moulin; Nathalie Allaman-Pillet; Francis L. Munier; Daniel F. Schorderet
TAGS: family, retinitis pigmentosa, whole exome sequencing, collagen, immunohistochemistry, proteins
Invest. Ophthalmol. Vis. Sci.. 2022; 63(3):23. https://doi.org/10.1167/iovs.63.3.23

ARVO Annual Meeting Abstract April 2014

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland

Viet Hoai Tran; Veronika Vaclavik; Susan Houghton; Leila Tiab; Daniel F Schorderet; Francis L Munier

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):4514.

ARVO Annual Meeting Abstract April 2011

Novel Cone Transducin Alpha Subunit Mutation In Tunisian Patients And Genotype-phenotype Correlation In Complete Achromatopsia

Farah Ouechtati; Ahlem Merdassi; Yosra Bouyacoub; Leila Largueche; Leila Tiab; Daniel F. Schorderet; Francis L. Munier; Leonidas Zografos; Sonia Abdelhak; Leila El Matri

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):2376.

ARVO Annual Meeting Abstract April 2011

A Novel Homozygous R764H Mutation in CRB1 Causes Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Family

Leila Bouayed-Tiab; Leila Largueche; Ibtissem Chouchane; Kaouthar Derouiche; Hasret Bajrami; Isabelle Favre; Francis L. Munier; Leila El Matri; Daniel F. Schorderet

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):2374.

Retina September 2010

The PROM1 Mutation p.R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod–Cone, and Macular Dystrophy

PDF

Michel Michaelides; Marie-Claire Gaillard; Pascal Escher; Leila Tiab; Matthew Bedell; François-Xavier Borruat; Daniel Barthelmes; Ruben Carmona; Kang Zhang; Edward White; Michelle McClements; Anthony G. Robson; Graham E. Holder; Keith Bradshaw; David M. Hunt; Andrew R. Webster; Anthony T. Moore; Daniel F. Schorderet; Francis L. Munier
TAGS: eye, family, macular disorders, macular dystrophy, mutation, retinal cone, rod photoreceptors, atrophy, phenotype
Invest. Ophthalmol. Vis. Sci.. 2010; 51(9):4771-4780. https://doi.org/10.1167/iovs.09-4561

ARVO Annual Meeting Abstract April 2009

Variable Phenotypic Expressivity in a Swiss Family With Autosomal Dominant Retinitis Pigmentosa Due to Mutation T494m in the Prpf3 Gene

V. Vaclavik; M. Gaillard; L. Tiab; I. Favre; D. F. Schorderet; F. L. Munier

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):4132.

ARVO Annual Meeting Abstract May 2007

First Autosomal Dominant Prominin Related Retinitis Pigmentosa

M.-C. Gaillard; L. Tiab; T. Delarive; T. Favez; Cé. Agosti; B. Piguet; F. L. Munier; D. F. Schorderet

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):3737.

ARVO Annual Meeting Abstract May 2007

Novel Mutations in the FRM7D Causing Congenital Nystagmus

L. Bouayed-Tiab; M.-C. Gaillard; T. Delarive; T. Favez; N. Nanchen; B. Lorenz; E. Traboulsi; G. Klainguti; F. L. Munier; D. F. Schorderet

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):1106.

ARVO Annual Meeting Abstract May 2006

A Heterozygous Mutation in the NR2E3 Gene Is Associated With an Autosomal Dominant Retinitis Pigmentosa

L. Bouayed–Tiab; T. Delarive; C. Agosti; F.–X. Borruat; F.L. Munier; D.F. Schorderet

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1033.

ARVO Annual Meeting Abstract May 2005

An Additional Locus for Autosomal Dominant Retinitis Pigmentosa (RP) on Chromosome 7p

G. Boisset; L. Tiab; S. Bolay; T. Delarive; S. Métrailler; M. Matter; M.–C. Gaillard; F.X. Borruat; F. Munier; D.F. Schorderet

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):511.

ARVO Annual Meeting Abstract May 2005

A Family With Congenital X–Linked Inherited Nystagmus and Mutation in CDR1

D.F. Schorderet; L. Tiab; S. Bolay; C. Agosti; T. Favez; I. Favre; M.–C. Gaillard; F.X. Borruat; F.L. Munier

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):2289.

ARVO Annual Meeting Abstract May 2005

Meesmann Corneal Dystrophy (MECD): Report Of 2 Families and a Novel Mutation in the Cornea Specific Keratin KRT12 Gene

O. Nichini; V. d'Allèves Manzi; L. Tiab; C. Agosti; T. Favez; I. Favre; S. Métrailler; F.L. Munier; D.F. Schorderet

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):4930.

ARVO Annual Meeting Abstract May 2004

Prevalence of the EFEMP1 R345W mutation in patients with presumed AMD originating from the endemic area of Malattia Leventinese and evidence for lack of genetic heterogeneity.

F. Nessi; R.–P. Copt; M. Vignanelli; L. Bouayed–Tiab; G. Sayfullina; M. Romano; D.F. Schorderet; F.L. Munier

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4722.

ARVO Annual Meeting Abstract May 2004

A second family with X–linked retinitis pigmentosa mapping to the RP24 locus

F.L. Munier; A. Balmer; F.–X. Borruat; V. d'Allèves Manzi; L. Bouayed–Tiab; D.F. Schorderet

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):5092.

ARVO Annual Meeting Abstract May 2004

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients

L. Bouayed–Tiab; C. Agosti; T. Favez; I. Favre; F.L. Munier; D.F. Schorderet

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):2453.

« 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