Search Results - "Bessant, David"

Molecular genetics and prospects for therapy of the inherited retinal dystrophies by Bessant, David A.R, Ali, Robin R, Bhattacharya, Shomi S

“…More than 60 genes responsible for human retinal dystrophies have been identified. Those recently isolated include the transcription factor genes NRL and…”
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A mutation in NRL is associated with autosomal dominant retinitis pigmentosa by Swaroop, Anand, Bhattacharya, Shomi S, Bessant, David A.R, Payne, Annette M, Mitton, Kenneth P, Wang, Qing-Liang, Swain, Prabodha K, Plant, Catherine, Bird, Alan C, Zack, Donald J

“…Retinitis pigmentosa (RP) is the term applied to a clinically and genetically heterogeneous group of retinal degenerations that primarily affects the rod…”
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Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II by Leroy, Bart P, Aragon-Martin, José A, Weston, Michael D, Bessant, David A.R, Willis, Catherine, Webster, Andrew R, Bird, Alan C, Kimberling, William J, Payne, Annette M, Bhattacharya, Shomi S

“…Usher syndrome (USH) is a combination of a progressive pigmentary retinopathy, indistinguishable from retinitis pigmentosa, and some degree of sensorineural…”
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Quantitative changes in the field of binocular single vision following a fadenoperation to a vertical rectus muscle by Kouri, Agathi S., Bessant, David A.R., Adams, Gillian G.W., Sloper, John J., Lee, John P.

“…Purpose: To quantify the effect of a fadenoperation to a vertical rectus muscle on the field of binocular single vision (BSV). Patients and Methods: BSV was…”
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NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies by Bessant, D A, Payne, A M, Plant, C, Bird, A C, Swaroop, A, Bhattacharya, S S

“…The aim of this work was to identify NRL mutations in a panel of 200 autosomal dominant retinitis pigmentosa (adRP) families. All samples were subjected to…”
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Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies by Payne, Annette M, Downes, Susan M, Bessant, David A R, Plant, Catherine, Moore, Tony, Bird, Alan C, Bhattacharya, Shomi S

“…The guanylate cyclase activator proteins (GCAP1 and GCAP2) are calcium binding proteins which by activating Ret-GC1 play a key role in the recovery phase of…”
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Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32 by Bessant, David A R, Anwar, Khalid, Khaliq, Shagufta, Hameed, Abdul, Ismail, M, Payne, Annette M, Mehdi, S Qasim, Bhattacharya, Shomi S

“…BACKGROUND Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia…”
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Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene by Bessant, David A R, Holder, Graham E, Fitzke, Frederick W, Payne, Annette M, Bhattacharya, Shomi S, Bird, Alan C

“…We previously reported an Ser50Thr mutation in the NRL gene as a cause of autosomal dominant retinitis pigmentosa. To determine the characteristic features of…”
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A Locus for Autosomal Recessive Congenital Microphthalmia Maps to Chromosome 14q32 by Bessant, David A.R., Khaliq, Shagufta, Hameed, Abdul, Anwar, Khalid, Mehdi, S. Qasim, Payne, Annette M., Bhattacharya, Shomi S.

“…Congenital microphthalmia (CMIC) (OMIM 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated CMIC may be…”
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Founder Effect, Seen in the British Population, of the 172 Peripherin/RDS Mutation—and Further Refinement of Genetic Positioning of the Peripherin/RDS Gene by Payne, Annette M., Downes, Susan M., Bessant, David A.R., Bird, Alan C., Bhattacharya, Shomi S.

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Broken intraocular lens haptic entrapped in visually significant posterior capsule opacification by Deshmukh, Rajesh R., Gatzioufas, Zisis, Saw, Valerie, Bessant, David

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Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin by Khaliq, Shagufta, Hameed, Abdul, Ismail, Muhammed, Mehdi, S. Qasim, Bessant, David A.R., Payne, Annette M., Bhattacharya, Shomi S.

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Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu) by Bessant, David A.R., Khaliq, Shagufta, Hameed, Abdul, Anwar, Khalid, Payne, Annette M., Mehdi, S. Qasim, Bhattacharya, Shomi S.

“…Mutations in the rhodopsin gene are reported to be responsible for approximately 25% of all cases of autosomal dominant Retinitis pigmentosa (adRP). Affected…”
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A Mutation in Guanylate Cyclase Activator 1A (GUCA1A) in an Autosomal Dominant Cone Dystrophy Pedigree Mapping to a New Locus on Chromosome 6p21.1 by Payne, Annette M., Downes, Susan M., Bessant, David A.R., Taylor, Rachel, Holder, Graham E., Warren, Martin J., Bird, Alan C., Bhattacharya, Shomi S.

“…We report a mutation (Y99C) in guanylate cyclase activator 1A (GUCA1A), the gene for guanylate cyclase activating protein (GCAP1), in a family with autosomal…”
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An Analysis of ABCR Mutations in British Patients with Recessive Retinal Dystrophies by Papaioannou, Myrto, Ocaka, Louise, Bessant, David, Lois, Noemi, Bird, Alan, Payne, Annette, Bhattacharya, Shomi

“…Several reports have shown that mutations in the ABCR gene can lead to Stargardt disease (STGD)/fundus flavimaculatus (FFM), autosomal recessive retinitis…”
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Amiya Kumar Chatterjee by Bessant, Rupa, Bessant, David

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A New Locus for Autosomal Recessive RP (RP29) Mapping to Chromosome 4q32-q34 in a Pakistani Family by Hameed, Abdul, Khaliq, Shagufta, Ismail, Muhammad, Anwar, Khalid, Mehdi, S. Qasim, Bessant, David, Payne, Annette M, Bhattacharya, Shomi S

“…To map the disease locus in a six-generation, consanguineous Pakistani family with autosomal recessive retinitis pigmentosa (arRP). All affected individuals…”
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Genotype-phenotype correlation in the inherited retinal dystrophies by Bessant, David Alfred Roger

“…This study aimed to identify novel genetic loci and genes responsible for a number of inherited retinal dystrophies and to perform a detailed analysis of the…”
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Genetic analysis of the guanylate cyclase activator 1B ( GUCA1B ) gene in patients with autosomal dominant retinal dystrophies: Table 1 by Payne, Annette M, Downes, Susan M, Bessant, David A R, Plant, Catherine, Moore, Tony, Bird, Alan C, Bhattacharya, Shomi S

“…The guanylate cyclase activator proteins (GCAP1 and GCAP2) are calcium binding proteins which by activating Ret-GC1 play a key role in the recovery phase of…”
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Astigmatism induced by spherical photorefractive keratectomy corrections by Shah, S, Chatterjee, A, Doyle, S J, Bessant, D A

“…The purpose of the study is to evaluate the induced astigmatism after spherical photorefractive keratectomy on the Summit Omnimed (Summit Instruments, Waltham,…”
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