Search | IOVS | ARVO Journals

Showing 1 – 13 of 13

SORT: Best Match Most Recent Oldest

VIEW: Basic | Expanded

Genetics October 2018

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

PDF

Rola Ba-Abbad; Monique Leys; Xinjing Wang; Christina Chakarova; Naushin Waseem; Keren J. Carss; F. Lucy Raymond; Kinga M. Bujakowska; Eric A. Pierce; Omar A. Mahroo; Moin D. Mohamed; Graham E. Holder; Marybeth Hummel; Gavin Arno; Andrew R. Webster
TAGS: alleles, genes, retinal diseases, signs and symptoms, genetic pedigree
Invest. Ophthalmol. Vis. Sci.. 2018; 59(12):4812-4820. doi: https://doi.org/10.1167/iovs.18-25061

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Whole genome analysis of inherited retinal disease patients reveals mutations intractable to other detection strategies

Gavin Arno; Keren J Carss; Michael Niblock; Naushin Waseem; Michael E. Cheetham; Michel Michaelides; Anthony T Moore; F Lucy Raymond; Andrew Webster

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):4467. doi:

ARVO Annual Meeting Abstract September 2016

Genome wide linkage scan of primary angle-closure glaucoma and its endophenotypes

Sancy Low; Pia Ostergaard; Naushin Waseem; Jonathan Ruddle; Mingguang He; Heather Cordell; Shomi Bhattacharya; David F Garway-Heath; Peng Tee Khaw; Paul J Foster

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):806. doi:

Genetics December 2015

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

PDF

Razek Georges Coussa; Christina Chakarova; Radwan Ajlan; Mohammed Taha; Conrad Kavalec; Julius Gomolin; Ayesha Khan; Irma Lopez; Huanan Ren; Naushin Waseem; Kunka Kamenarova; Shomi S. Bhattacharya; Robert K. Koenekoop
TAGS: french, genotype, mutation, phenotype, retinitis pigmentosa, genes, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2015; 56(13):8297-8305. doi: https://doi.org/10.1167/iovs.15-17104

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Genotype and phenotype studies in autosomal dominant retinitis pigmentosa (adRP) of the French Canadian founder population.

Razek Georges Coussa; Christina Chakarova; Radwan Ajlan; Conrad Kavalec; Aysha Khan; Irma Lopez; Huanan Ren; Naushin Waseem; Shomi S Bhattacharya; Robert K Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3265. doi:

ARVO Annual Meeting Abstract March 2012

Novel Mutations In Autosomal Dominant Retinitis Pigmentosa And Their Prevalence In The French - Canadian Population, A Well - Known Founder Population

Christina F. Chakarova; Razek Georges Coussa; Radwan Ajlan; Irma Lopez; Huanan Ren; Naushin H. Waseem; Shomi S. Bhattacharya; Robert K. Koenekoop

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4570. doi:

Retina December 2011

Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families Carrying Mutations in PRPF8

PDF

Cécilia G. Maubaret; Veronika Vaclavik; Rajarshi Mukhopadhyay; Naushin H. Waseem; Amanda Churchill; Graham E. Holder; Anthony T. Moore; Shomi S. Bhattacharya; Andrew R. Webster
TAGS: family, hereditary disorder, autosomal, dominant, incomplete penetrance, mutation, retinitis pigmentosa, carrying
Invest. Ophthalmol. Vis. Sci.. 2011; 52(13):9304-9309. doi: https://doi.org/10.1167/iovs.11-8372

Genetics August 2011

A 112 kb Deletion in Chromosome 19q13.42 Leads to Retinitis Pigmentosa

PDF

Anna M. Rose; Rajarshi Mukhopadhyay; Andrew R. Webster; Shomi S. Bhattacharya; Naushin H. Waseem
TAGS: chromosomes, retinitis pigmentosa, family, medical history, genes, ligation, mutation, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2011; 52(9):6597-6603. doi: https://doi.org/10.1167/iovs.11-7861

ARVO Annual Meeting Abstract April 2011

Mutation Screening of GPNMB In 96 Patients With Pigment Dispersion Syndrome

Ameet Shah; Naushin H. Waseem; Shomi S. Bhattacharya; David F. Garway-Heath

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):2419. doi:

Biochemistry and Molecular Biology July 2010

Alterations of the 5′Untranslated Region of SLC16A12 Lead to Age-Related Cataract

PDF

Jurian Zuercher; John Neidhardt; Istvan Magyar; Stephan Labs; Anthony T. Moore; Felix C. Tanner; Naushin Waseem; Daniel F. Schorderet; Francis L. Munier; Shomi Bhattacharya; Wolfgang Berger; Barbara Kloeckener-Gruissem
TAGS: alleles, cataract, cataract, senile, mutation, rna, single nucleotide polymorphism, dna, cell culture techniques, heterogeneity
Invest. Ophthalmol. Vis. Sci.. 2010; 51(7):3354-3361. doi: https://doi.org/10.1167/iovs.10-5193

Retina December 2007

An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy

PDF

Robert H. Henderson; Naushin Waseem; Rowan Searle; Jacqueline van der Spuy; Isabelle Russell-Eggitt; Shomi S. Bhattacharya; Dorothy A. Thompson; Graham E. Holder; Michael E. Cheetham; Andrew R. Webster; Anthony T. Moore
TAGS: alleles, cohort studies, genotype determination, leber's amaurosis, mutation, retinal dystrophies, single nucleotide polymorphism, technology, genes, heterozygote
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5684-5689. doi: https://doi.org/10.1167/iovs.07-0207

Includes: Supplemental Content

Retina March 2007

Mutations in the Gene Coding for the Pre-mRNA Splicing Factor, PRPF31 , in Patients with Autosomal Dominant Retinitis Pigmentosa

PDF

Naushin H. Waseem; Veronika Vaclavik; Andrew Webster; Sharon A. Jenkins; Alan C. Bird; Shomi S. Bhattacharya
TAGS: genes, heterogeneous nuclear rna, mutation, retinitis pigmentosa, rna splicing
Invest. Ophthalmol. Vis. Sci.. 2007; 48(3):1330-1334. doi: https://doi.org/10.1167/iovs.06-0963

Retina July 2006

Maculopathy Due to the R345W Substitution in Fibulin-3: Distinct Clinical Features, Disease Variability, and Extent of Retinal Dysfunction

PDF

Michel Michaelides; Sharon A. Jenkins; Milam A. Brantley, Jr; Richard M. Andrews; Naushin Waseem; Vy Luong; Kevin Gregory-Evans; Shomi S. Bhattacharya; Fred W. Fitzke; Andrew R. Webster
TAGS: drusen, fibulin, macular disorders, mutation, pathophysiology, screening
Invest. Ophthalmol. Vis. Sci.. 2006; 47(7):3085-3097. doi: https://doi.org/10.1167/iovs.05-1600

NARROW

Content Type

Journal

Article Type

Topics

Tags

Specify Date Range

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene

Whole genome analysis of inherited retinal disease patients reveals mutations intractable to other detection strategies

Genome wide linkage scan of primary angle-closure glaucoma and its endophenotypes

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

Genotype and phenotype studies in autosomal dominant retinitis pigmentosa (adRP) of the French Canadian founder population.

Novel Mutations In Autosomal Dominant Retinitis Pigmentosa And Their Prevalence In The French - Canadian Population, A Well - Known Founder Population

Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families Carrying Mutations in PRPF8

A 112 kb Deletion in Chromosome 19q13.42 Leads to Retinitis Pigmentosa

Mutation Screening of GPNMB In 96 Patients With Pigment Dispersion Syndrome

Alterations of the 5′Untranslated Region of SLC16A12 Lead to Age-Related Cataract

An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy

Mutations in the Gene Coding for the Pre-mRNA Splicing Factor, PRPF31 , in Patients with Autosomal Dominant Retinitis Pigmentosa

Maculopathy Due to the R345W Substitution in Fibulin-3: Distinct Clinical Features, Disease Variability, and Extent of Retinal Dysfunction

To View More...

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