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Annette Payne

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Vertebrate Photoreceptor Cells

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Sharola Dharmaraj; Bart P Leroy; Melanie M Sohocki; Robert K Koenekoop; Isabelle Perrault; Khalid Anwar; Shagufta Khaliq; R Summathi Devi; David G Birch; Elaine De Pool; Natalio Izquierdo; Lionel Van Maldergem; Muhammad Ismail; Annette M Payne; Graham Holder; Shomi S Bhattacharya; Alan C Bird; Josseline Kaplan; Irene H Maumenee
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
David A R Bessant; Graham Holder; Frederick W Fitzke; Annette M Payne; Shomi S Bhattacharya; Alan C Bird
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.
Richard J Newbold; Evelyne C Deery; Annette M Payne; Susan E Wilkie; David Hunt; Martin J Warren
Guanylate cyclase activating proteins, guanylate cyclase and disease.

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All Publications

2004: Sharola Dharmaraj; Bart P Leroy; Melanie M Sohocki; Robert K Koenekoop; Isabelle Perrault; Khalid Anwar; Shagufta Khaliq; R Summathi Devi; David G Birch; Elaine De Pool; Natalio Izquierdo; Lionel Van Maldergem; Muhammad Ismail; Annette M Payne; Graham Holder; Shomi S Bhattacharya; Alan C Bird; Josseline Kaplan; Irene H Maumenee
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
Archives of ophthalmology 2004;122(7):1029-37.
2003: David A R Bessant; Graham Holder; Frederick W Fitzke; Annette M Payne; Shomi S Bhattacharya; Alan C Bird
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.
Archives of ophthalmology 2003;121(6):793-802.
2002: Richard J Newbold; Evelyne C Deery; Annette M Payne; Susan E Wilkie; David Hunt; Martin J Warren
Guanylate cyclase activating proteins, guanylate cyclase and disease.
Advances in experimental medicine and biology 2002;514():411-38.
2001: SM Downes; Annette M Payne; RE Kelsell; Frederick W Fitzke; Graham Holder; David Hunt; Anthony T Moore; Alan C Bird
Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.
Archives of ophthalmology 2001;119(11):1667-73.
2001: Annette M Payne; A G Morris; SM Downes; S Johnson; Alan C Bird; Anthony T Moore; Shomi S Bhattacharya; David Hunt
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.
Journal of medical genetics 2001;38(9):611-4.
2001: Shagufta Khaliq; Abdul Hameed; Muhammad Ismail; Khalid Anwar; B Leroy; Annette M Payne; Shomi S Bhattacharya; S Qasim Mehdi
Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous.
Investigative ophthalmology & visual science 2001;42(10):2225-8.
2001: Abdul Hameed; Shagufta Khaliq; Muhammad Ismail; Khalid Anwar; S Qasim Mehdi; David A R Bessant; Annette M Payne; Shomi S Bhattacharya
A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family.
Investigative ophthalmology & visual science 2001;42(7):1436-8.
2001: Bart P Leroy; J A Aragon-Martin; Michael D Weston; David A R Bessant; Catherine Willis; Andrew R Webster; Alan C Bird; William J Kimberling; Annette M Payne; Shomi S Bhattacharya
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
Experimental eye research 2001;72(5):503-9.
2001: SM Downes; Graham Holder; Frederick W Fitzke; Annette M Payne; Martin J Warren; Shomi S Bhattacharya; Alan C Bird
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
Archives of ophthalmology 2001;119(1):96-105.
2000: Shagufta Khaliq; Abdul Hameed; Muhammad Ismail; Khalid Anwar; Bart P Leroy; S Qasim Mehdi; Annette M Payne; Shomi S Bhattacharya
Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.
Investigative ophthalmology & visual science 2000;41(12):3709-12.
2000: David A R Bessant; Annette M Payne; C Plant; Alan C Bird; Anand Swaroop; Shomi S Bhattacharya
NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.
European journal of human genetics : EJHG 2000;8(10):783-7.
2000: D Sarraf; Annette M Payne; N D Kitchen; K S Sehmi; SM Downes; Alan C Bird
Familial cavernous hemangioma: An expanding ocular spectrum.
Archives of ophthalmology 2000;118(7):969-73.
2000: Melanie M Sohocki; Isabelle Perrault; Bart P Leroy; Annette M Payne; Sharola Dharmaraj; Shomi S Bhattacharya; Josseline Kaplan; Irene H Maumenee; Robert K Koenekoop; Françoise Meire; David G Birch; John R Heckenlively; Stephen P Daiger
Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
Molecular genetics and metabolism 2000;70(2):142-50.
2000: D A Bressant; Annette M Payne; B E Snow; G Antiño; S Qasim Mehdi; A C Bird; David Siderovski; S S Bhattacharya
Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene RGS16 (RGS-r)
Journal of medical genetics 2000;37(5):384-7.
2000: Abdul Hameed; Shagufta Khaliq; Muhammad Ismail; Khalid Anwar; Neil D Ebenezer; Tim Jordan; S Qasim Mehdi; Annette M Payne; Shomi S Bhattacharya
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
Investigative ophthalmology & visual science 2000;41(3):629-33.
2000: Melanie M Sohocki; Sara J Bowne; Lori S Sullivan; Seth Blackshaw; Constance L Cepko; Annette M Payne; Shomi S Bhattacharya; Shagufta Khaliq; S Qasim Mehdi; David G Birch; Wilbur R Harrison; Frederick F Elder; John R Heckenlively; Stephen P Daiger
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
Nature genetics 2000;24(1):79-83.
1999: SM Downes; Frederick W Fitzke; Graham Holder; Annette M Payne; David A R Bessant; Shomi S Bhattacharya; Alan C Bird
Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.
Archives of ophthalmology 1999;117(10):1373-83.
1999: Anneke I den Hollander; Jacoline B ten Brink; Yvette J M de Kok; Simone van Soest; L Ingeborgh Van Den Born; MA van Driel; Dorien J R van De Pol; Annette M Payne; S S Bhattacharya; Ulrich Kellner; Carel B Hoyng; A Westerveld; Han G Brunner; EM Bleeker-Wagemakers; August F Deutman; John R Heckenlively; Frans P M Cremers; Arthur A B Bergen
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
Nature genetics 1999;23(2):217-21.
1999: Annette M Payne; SM Downes; David A R Bessant; C Plant; T Moore; Alan C Bird; Shomi S Bhattacharya
Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies.
Journal of medical genetics 1999;36(9):691-3.
1999: Shagufta Khaliq; Abdul Hameed; Muhammad Ismail; S Qasim Mehdi; David A R Bessant; Annette M Payne; Shomi S Bhattacharya
Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.
American journal of human genetics 1999;65(2):571-4.
1999: David A R Bessant; Khalid Anwar; Shagufta Khaliq; Abdul Hameed; Muhammad Ismail; Annette M Payne; S Qasim Mehdi; Shomi S Bhattacharya
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.
The British journal of ophthalmology 1999;83(8):919-22.
1999: David A R Bessant; Annette M Payne; kenneth mitton; Q L Wang; Prabodh K Swain; C Plant; Alan C Bird; Donald J Zack; Anand Swaroop; Shomi S Bhattacharya
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.
Nature genetics 1999;21(4):355-6.
1999: David A R Bessant; Shagufta Khaliq; Abdul Hameed; Khalid Anwar; Annette M Payne; S Qasim Mehdi; Shomi S Bhattacharya
Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online.
Human mutation 1999;13(1):83.
1998: David A R Bessant; Annette M Payne; C Plant; Alan C Bird; Shomi S Bhattacharya
Further refinement of the Usher 2A locus at 1q41.
Journal of medical genetics 1998;35(9):773-4.
1998: Izabela Sokal; Ning Li; Irina Surgucheva; Martin J Warren; Annette M Payne; S S Bhattacharya; Wolfgang Baehr; Krzysztof Palczewski
GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy.
Molecular cell 1998;2(1):129-33.
1998: RE Kelsell; Kevin Gregory-Evans; Annette M Payne; Isabelle Perrault; Josseline Kaplan; RB Yang; David L Garbers; Alan C Bird; Anthony T Moore; David Hunt
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
Human molecular genetics 1998;7(7):1179-84.
1998: David A R Bessant; Shagufta Khaliq; Abdul Hameed; Khalid Anwar; S Qasim Mehdi; Annette M Payne; Shomi S Bhattacharya
A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.
American journal of human genetics 1998;62(5):1113-6.
1998: Annette M Payne; SM Downes; David A R Bessant; R Taylor; Graham Holder; Martin J Warren; Alan C Bird; Shomi S Bhattacharya
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.
Human molecular genetics 1998;7(2):273-7.
1998: Annette M Payne; SM Downes; David A R Bessant; Alan C Bird; Shomi S Bhattacharya
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.
American journal of human genetics 1998;62(1):192-5.