Payne AM - Search Results

1

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

Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, Bhattacharya SS. Payne AM, et al. Hum Mol Genet. 1998 Feb;7(2):273-7. doi: 10.1093/hmg/7.2.273. Hum Mol Genet. 1998. PMID: 9425234

2

A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.

Bessant DA, Khaliq S, Hameed A, Anwar K, Mehdi SQ, Payne AM, Bhattacharya SS. Bessant DA, et al. Among authors: payne am. Am J Hum Genet. 1998 May;62(5):1113-6. doi: 10.1086/301843. Am J Hum Genet. 1998. PMID: 9545413 Free PMC article.

3

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

Kelsell RE, Gregory-Evans K, Payne AM, Perrault I, Kaplan J, Yang RB, Garbers DL, Bird AC, Moore AT, Hunt DM. Kelsell RE, et al. Among authors: payne am. Hum Mol Genet. 1998 Jul;7(7):1179-84. doi: 10.1093/hmg/7.7.1179. Hum Mol Genet. 1998. PMID: 9618177

4

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

Sokal I, Li N, Surgucheva I, Warren MJ, Payne AM, Bhattacharya SS, Baehr W, Palczewski K. Sokal I, et al. Among authors: payne am. Mol Cell. 1998 Jul;2(1):129-33. doi: 10.1016/s1097-2765(00)80121-5. Mol Cell. 1998. PMID: 9702199 Free article.

5

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

Bessant DA, Payne AM, Plant C, Bird AC, Bhattacharya SS. Bessant DA, et al. Among authors: payne am. J Med Genet. 1998 Sep;35(9):773-4. doi: 10.1136/jmg.35.9.773. J Med Genet. 1998. PMID: 9733039 Free PMC article.

6

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online.

Bessant DA, Khaliq S, Hameed A, Anwar K, Payne AM, Mehdi SQ, Bhattacharya SS. Bessant DA, et al. Among authors: payne am. Hum Mutat. 1999;13(1):83. doi: 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU12>3.0.CO;2-5. Hum Mutat. 1999. PMID: 10189219

7

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

Payne AM, Downes SM, Bessant DA, Plant C, Moore T, Bird AC, Bhattacharya SS. Payne AM, et al. J Med Genet. 1999 Sep;36(9):691-3. J Med Genet. 1999. PMID: 10507726 Free PMC article.

8

NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.

Bessant DA, Payne AM, Plant C, Bird AC, Swaroop A, Bhattacharya SS. Bessant DA, et al. Among authors: payne am. Eur J Hum Genet. 2000 Oct;8(10):783-7. doi: 10.1038/sj.ejhg.5200538. Eur J Hum Genet. 2000. PMID: 11039579

9

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

Downes SM, Holder GE, Fitzke FW, Payne AM, Warren MJ, Bhattacharya SS, Bird AC. Downes SM, et al. Among authors: payne am. Arch Ophthalmol. 2001 Jan;119(1):96-105. Arch Ophthalmol. 2001. PMID: 11146732

10

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

Downes SM, Payne AM, Kelsell RE, Fitzke FW, Holder GE, Hunt DM, Moore AT, Bird AC. Downes SM, et al. Among authors: payne am. Arch Ophthalmol. 2001 Nov;119(11):1667-73. doi: 10.1001/archopht.119.11.1667. Arch Ophthalmol. 2001. PMID: 11709018

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