Search | IOVS | ARVO Journals

Access Provided By:
MIT Libraries

Forgot password?

Create an Account

View

Showing 1 – 9 of 9

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

Genetics May 2012

Recessive Mutations in TSPAN12 Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

PDF

James A. Poulter; Alice E. Davidson; Manir Ali; David F. Gilmour; David A. Parry; Helen A. Mintz-Hittner; Ian M. Carr; Helen M. Bottomley; Vernon W. Long; Louise M. Downey; Panagiotis I. Sergouniotis; Genevieve A. Wright; Robert E. MacLaren; Anthony T. Moore; Andrew R. Webster; Chris F. Inglehearn; Carmel Toomes
TAGS: familial exudative vitreoretinopathies, mutation, retinal dysplasia, family
Invest. Ophthalmol. Vis. Sci.. 2012; 53(6):2873-2879. https://doi.org/10.1167/iovs.11-8629

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Improved Response To Ranibizumab In Ex And Current Smokers With Age-related Macular Degeneration (AMD), But No Evidence That CFH, ARMS2/HTRA1 Or VEGF Genotypes Predict Treatment Outcome

Chris F. Inglehearn; Manir Ali; Richard Gale; Frances Cassidy; Deepali Varma; Louise M. Downey; Paul D. Baxter; Martin McKibbin

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):3325.

ARVO Annual Meeting Abstract March 2012

Genetic Analysis Of A Family With Familial Exudative Vitreoretinopathy And Incontinentia Pigmenti

James A. Poulter; Louise M. Downey; Donna Billingham; Ruth S. Charlton; Manir Ali; Chris F. Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4561.

ARVO Annual Meeting Abstract April 2011

Mutational Load In TSPAN12 Influences The Severity Of FEVR

James A. Poulter; Alice E. Davidson; Manir Ali; Helen A. Mintz-Hittner; Louise M. Downey; Panagiotis I. Sergouniotis; Anthony T. Moore; Andrew R. Webster; Chris F. Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5370.

ARVO Annual Meeting Abstract April 2010

Identification of Tspan12 as a New Gene Mutated in FEVR

C. Toomes; J. A. Poulter; M. Ali; D. F. Gilmour; A. Rice; H. Kondo; J. E. Craig; E. A. Pierce; L. M. Downey; C. F. Inglehearn

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):6350.

ARVO Annual Meeting Abstract May 2008

FEVR in Association With Chromosome 22q11.2 Deletion Syndrome

C. Toomes; D. F. Gilmour; V. Long; J. Bradbury; L. M. Downey

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):467.

ARVO Annual Meeting Abstract May 2008

Mutation Screening in FZD4 and LRP5 in Familial Exudative Vitreoretinopathy Patients

L. M. Downey; D. F. Gilmour; H. M. Bottomley; S. Scott; C. F. Inglehearn; C. Toomes

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):469.

Biochemistry and Molecular Biology July 2004

Spectrum and Frequency of FZD4 Mutations in Familial Exudative Vitreoretinopathy

PDF

Carmel Toomes; Helen M. Bottomley; Sheila Scott; David A. Mackey; Jamie E. Craig; Binoy Appukuttan; J. Timothy Stout; Christina J. Flaxel; Kang Zhang; Graeme C. M. Black; Alan Fryer; Louise M. Downey; Chris F. Inglehearn
TAGS: familial exudative vitreoretinopathies, mutation, family
Invest. Ophthalmol. Vis. Sci.. 2004; 45(7):2083-2090. https://doi.org/10.1167/iovs.03-1044

ARVO Annual Meeting Abstract December 2002

Autosomal Dominant Familial Exudative Vitreoretinopathy: Further Evidence for Genetic Heterogeneity

LM Downey; H Mintz-Hittner; C Toomes; J Keen; C Inglehearn

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):817.

Advertisement