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Journal Articles (6)

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Investigative Ophthalmology & Visual Science (6)

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Biochemistry and Molecular Biology (6)

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Biochemistry and Molecular Biology (6)
Genetics (6)
Eye Anatomy and Disorders (2)
Retina (2)
Cornea (1)

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mutation (5)
family (4)
autosomal recessive inheritance (3)
chromosomes (3)
dna (2)
genes (2)
haplotypes (1)
keratoconus (1)
leber's amaurosis (1)
persistent hyperplastic primary vitreous (1)

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Biochemistry and Molecular Biology September 2001

Locus for Autosomal Recessive Nonsyndromic Persistent Hyperplastic Primary Vitreous

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Shagufta Khaliq; Abdul Hameed; Muhammad Ismail; Khalid Anwar; Bart Leroy; Annette M. Payne; Shomi S. Bhattacharya; S. Qasim Mehdi
TAGS: autosomal recessive inheritance, persistent hyperplastic primary vitreous
Invest. Ophthalmol. Vis. Sci.. 2001; 42(10):2225-2228. doi:

Biochemistry and Molecular Biology June 2001

A New Locus for Autosomal Recessive RP ( RP29 ) Mapping to Chromosome 4q32-q34 in a Pakistani Family

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Abdul Hameed; Shagufta Khaliq; Muhammad Ismail; Khalid Anwar; S. Qasim Mehdi; David Bessant; Annette M. Payne; Shomi S. Bhattacharya
TAGS: autosomal recessive inheritance, chromosomes, family, dna, mutation
Invest. Ophthalmol. Vis. Sci.. 2001; 42(7):1436-1438. doi:

Biochemistry and Molecular Biology December 2000

RP1 Protein Truncating Mutations Predominate at the RP1 adRP Locus

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Annette Payne; Eranga Vithana; Shagufta Khaliq; Abdul Hameed; Jane Deller; Leen Abu-Safieh; Sana Kermani; Bart P. Leroy; S. Qasim Mehdi; Anthony T. Moore; Alan C. Bird; Shomi S. Bhattacharya
TAGS: mutation, proteins, family
Invest. Ophthalmol. Vis. Sci.. 2000; 41(13):4069-4073. doi:

Biochemistry and Molecular Biology November 2000

Novel Locus for Autosomal Recessive Cone–Rod Dystrophy CORD8 Mapping to Chromosome 1q12-Q24

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Shagufta Khaliq; Abdul Hameed; Muhammad Ismail; Khalid Anwar; Bart P. Leroy; S. Qasim Mehdi; Annette M. Payne; Shomi S. Bhattacharya
TAGS: autosomal recessive inheritance, chromosomes, progressive cone-rod dystrophy, retinitis pigmentosa, dna, mutation, family
Invest. Ophthalmol. Vis. Sci.. 2000; 41(12):3709-3712. doi:

Biochemistry and Molecular Biology March 2000

A Novel Locus for Leber Congenital Amaurosis (LCA4) with Anterior Keratoconus Mapping to Chromosome 17p13

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Abdul Hameed; Shagufta Khaliq; Muhammed Ismail; Khalid Anwar; Neil D. Ebenezer; Tim Jordan; S. Qasim Mehdi; Annette M. Payne; Shomi S. Bhattacharya
TAGS: chromosomes, keratoconus, leber's amaurosis, mutation, screening, family, genes
Invest. Ophthalmol. Vis. Sci.. 2000; 41(3):629-633. doi:

Biochemistry and Molecular Biology January 2000

An Analysis of ABCR Mutations in British Patients with Recessive Retinal Dystrophies

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Myrto Papaioannou; Louise Ocaka; David Bessant; Noemi Lois; Alan Bird; Annette Payne; Shomi Bhattacharya
TAGS: mutation, retinal dystrophies, haplotypes, genes
Invest. Ophthalmol. Vis. Sci.. 2000; 41(1):16-19. doi:

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Online ISSN: 1552-5783

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

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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