A. Payne

发表

Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.

A. Bird, G. Holder, S. Bhattacharya, 2003, Archives of ophthalmology.

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.

A. Bird, F. Fitzke, S. Bhattacharya, 2001, Archives of ophthalmology.

Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.

A. Bird, S. Bhattacharya, F. Fitzke, 1999, Archives of ophthalmology.

Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies

A. Bird, S. Bhattacharya, S. Downes, 1999, Journal of medical genetics.

An analysis of ABCR mutations in British patients with recessive retinal dystrophies.

A. Bird, S. Bhattacharya, N. Lois, 2000, Investigative ophthalmology & visual science.

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

A. Bird, G. Holder, S. Bhattacharya, 2004, Archives of ophthalmology.

Molecular Genetic Study of Autosomal Dominant Retinitis pigmentosa in Lithuanian Patients

S. Bhattacharya, V. Kučinskas, D. Ambrasienė, 1999, Human Heredity.

Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene RGS16 )

A. Bird, S. Bhattacharya, S. Bhattacharya, 2022 .

Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32

S. Bhattacharya, S. Khaliq, A. Hameed, 1999, The British journal of ophthalmology.

Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

A. Bird, S. Bhattacharya, S. Downes, 1998, American journal of human genetics.

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

D. Hunt, A. Bird, A. Moore, 1998, Human molecular genetics.

Familial cavernous hemangioma: An expanding ocular spectrum.

N. Kitchen, A. Bird, D. Sarraf, 2000, Archives of ophthalmology.

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

D. Hunt, A. Bird, S. Bhattacharya, 2001, Journal of medical genetics.

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

A. Bird, S. Bhattacharya, W. Kimberling, 2001, Experimental eye research.

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

A. Deutman, A. D. den Hollander, H. Brunner, 1999, Nature Genetics.

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

C. Cepko, S. Bhattacharya, S. Daiger, 2000, Nature Genetics.

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.

M. Fox, S. Povey, P. Khaw, 2000, American journal of human genetics.

Variants of STAT6 (signal transducer and activator of transcription 6) in atopic asthma

S. Bhattacharya, B. Snow, D. Siderovski, 2000, Journal of medical genetics.

Guanylate cyclase activating proteins, guanylate cyclase and disease.

D. Hunt, M. Warren, S. Wilkie, 2002, Advances in experimental medicine and biology.

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

D. Hunt, A. Bird, F. Fitzke, 2001, Archives of ophthalmology.

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

A. Bird, G. Holder, S. Bhattacharya, 1998, Human molecular genetics.

Rhodopsin Mutations in Sectorial Retinitis Pigmentosa

S. Kaushal, A. Bird, S. Bhattacharya, 2001 .

A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.

S. Bhattacharya, J. Bellingham, C. Gregory‐Evans, 1998, Journal of medical genetics.

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

D. Zack, A. Swaroop, A. Bird, 1999, Nature Genetics.

NRL S50T mutation and the importance of ‘founder effects’ in inherited retinal dystrophies

A. Swaroop, A. Bird, S. Bhattacharya, 2000, European Journal of Human Genetics.

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY

S. Bhattacharya, M. Votruba, A. Moore, 1998, Mammalian Genome.

Localisation of a gene for autosomal recessive cone-rod dystrophy to chromosome 17p12-13.3

S. Bhattacharya, S. Khaliq, A. Hameed, 1999 .

Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene RGS16 (RGS-r)

A. Bird, S. Bhattacharya, B. Snow, 2000, Journal of medical genetics.

RP1 protein truncating mutations predominate at the RP1 adRP locus.

A. Bird, S. Bhattacharya, E. Vithana, 2000, Investigative ophthalmology & visual science.

RP 1 Protein Truncating Mutations Predominate at the RP 1 adRP Locus

A. Bird, S. Bhattacharya, E. Vithana, 2000 .

Further refinement of the Usher 2A locus at 1q41.

A. Bird, S. Bhattacharya, A. Payne, 1998, Journal of medical genetics.

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

S. Bhattacharya, S. Daiger, J. Heckenlively, 2000, Molecular genetics and metabolism.

Genes and proteins involved in the control of meiosis

D. Griffin, A. Payne, H. M. Critchlow, 2004, Cytogenetic and Genome Research.

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

K. Lakhoo, S. Bhattacharya, P. Syrris, 2001, Journal of medical genetics.

Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.

S. Bhattacharya, S. Khaliq, B. Leroy, 2000, Investigative ophthalmology & visual science.

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu)

S. Bhattacharya, S. Bhattacharya, S. Khaliq, 1999, Human mutation.

Clustering and frequency of mutations in the retinal guanylate cyclase ( GUCY2D ) gene in patients with dominant cone-rod dystrophies

D. Hunt, A. Bird, S. Bhattacharya, 2001 .

Clustering and frequency of mutations in the retinal guanylate cyclase ( GUCY2D ) gene in patients with dominant cone-rod dystrophies

S. Bhattacharya, A. Payne, Samantha Johnson, 2001 .

Clustering and frequency of mutations in the retinal guanylate cyclase ( GUCY2D ) gene in patients with dominant cone-rod dystrophies

S. Bhattacharya, A. Payne, Samantha Johnson, 2001 .

Clustering and frequency of mutations in the retinal guanylate cyclase ( GUCY2D ) gene in patients with dominant cone-rod dystrophies

S. Bhattacharya, A. Payne, Samantha Johnson, 2001 .

Clustering and frequency of mutations in the retinal guanylate cyclase ( GUCY2D ) gene in patients with dominant cone-rod dystrophies

S. Bhattacharya, A. Payne, Samantha Johnson, 2001 .

GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy.

K. Palczewski, S. Bhattacharya, W. Baehr, 1998, Molecular cell.

Variants of STAT6 (signal transducer and activator of transcription 6) in atopic asthma

X. Estivill, S. Bhattacharya, D. Siderovski, 2000, Journal of medical genetics.

A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.

S. Bhattacharya, S. Khaliq, S. Bhattacharya, 1999, Investigative ophthalmology & visual science.