Bird AC - Search Results

1

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

Payne AM, Downes SM, Bessant DA, Bird AC, Bhattacharya SS. Payne AM, et al. Among authors: bird ac. Am J Hum Genet. 1998 Jan;62(1):192-5. doi: 10.1086/301679. Am J Hum Genet. 1998. PMID: 9443872 Free PMC article. No abstract available.

2

Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.

Keen TJ, Inglehearn CF, Kim R, Bird AC, Bhattacharya S. Keen TJ, et al. Among authors: bird ac. Hum Mol Genet. 1994 Feb;3(2):367-8. doi: 10.1093/hmg/3.2.367. Hum Mol Genet. 1994. PMID: 8004111 No abstract available.

3

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. Among authors: bird ac. Hum Mol Genet. 1998 Feb;7(2):273-7. doi: 10.1093/hmg/7.2.273. Hum Mol Genet. 1998. PMID: 9425234

4

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

Downes SM, Fitzke FW, Holder GE, Payne AM, Bessant DA, Bhattacharya SS, Bird AC. Downes SM, et al. Among authors: bird ac. Arch Ophthalmol. 1999 Oct;117(10):1373-83. doi: 10.1001/archopht.117.10.1373. Arch Ophthalmol. 1999. PMID: 10532447

5

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: bird ac. Eur J Hum Genet. 2000 Oct;8(10):783-7. doi: 10.1038/sj.ejhg.5200538. Eur J Hum Genet. 2000. PMID: 11039579

6

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.

Kim RY, Dollfus H, Keen TJ, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC. Kim RY, et al. Among authors: bird ac. Arch Ophthalmol. 1995 Apr;113(4):451-5. doi: 10.1001/archopht.1995.01100040067029. Arch Ophthalmol. 1995. PMID: 7710395

7

Segregation of a PRKCG mutation in two RP11 families.

Al-Maghtheh M, Vithana EN, Inglehearn CF, Moore T, Bird AC, Bhattacharya SS. Al-Maghtheh M, et al. Among authors: bird ac. Am J Hum Genet. 1998 May;62(5):1248-52. doi: 10.1086/301819. Am J Hum Genet. 1998. PMID: 9545390 Free PMC article. No abstract available.

8

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: bird ac. 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.

9

Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD).

Kermani S, Gregory-Evans K, Tarttelin EE, Bellingham J, Plant C, Bird AC, Fox M, Bhattacharya SS, Gregory-Evans CY. Kermani S, et al. Among authors: bird ac. Hum Genet. 1999 Jan;104(1):77-82. doi: 10.1007/s004390050913. Hum Genet. 1999. PMID: 10071196

10

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. Among authors: bird ac. J Med Genet. 1999 Sep;36(9):691-3. J Med Genet. 1999. PMID: 10507726 Free PMC article.

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