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Meeting Abstract (3)

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Investigative Ophthalmology & Visual Science (6)

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ARVO Annual Meeting Abstract (3)
Retina (2)
Genetics (1)

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Genetics (3)
Retina (3)
Eye Anatomy and Disorders (2)

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mutation (3)
retinitis pigmentosa (3)
family (2)
genes (2)
carrying (1)
chromosomes (1)
dominant autosomal hereditary disorder with incomplete penetrance (1)
heterogeneous nuclear rna (1)
ligation (1)
medical history (1)

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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

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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: dominant autosomal hereditary disorder with incomplete penetrance, family, 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

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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:

ARVO Annual Meeting Abstract April 2010

Identification of Large Deletions in PRPF31 in Autosomal Dominant Retinitis Pigmentosa

A. M. Rose; A. R. Webster; R. Mukhopadhyay; S. S. Bhattacharya; N. H. Waseem

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):4093. doi:

Retina March 2007

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

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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

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Online ISSN: 1552-5783

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

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