Bird AC - 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. 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

2

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Among authors: bird ac. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002

3

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS. Bowne SJ, et al. Hum Mol Genet. 1999 Oct;8(11):2121-8. doi: 10.1093/hmg/8.11.2121. Hum Mol Genet. 1999. PMID: 10484783 Free PMC article.

4

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.

al-Maghtheh M, Inglehearn CF, Keen TJ, Evans K, Moore AT, Jay M, Bird AC, Bhattacharya SS. al-Maghtheh M, et al. Among authors: bird ac. Hum Mol Genet. 1994 Feb;3(2):351-4. doi: 10.1093/hmg/3.2.351. Hum Mol Genet. 1994. PMID: 8004108

5

Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).

Inglehearn CF, Keen TJ, al-Maghtheh M, Gregory CY, Jay MR, Moore AT, Bird AC, Bhattacharya SS. Inglehearn CF, et al. Among authors: bird ac. Am J Hum Genet. 1994 Apr;54(4):675-80. Am J Hum Genet. 1994. PMID: 8128965 Free PMC article.

6

A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

Tarttelin EE, Plant C, Weissenbach J, Bird AC, Bhattacharya SS, Inglehearn CF. Tarttelin EE, et al. Among authors: bird ac. J Med Genet. 1996 Jun;33(6):518-20. doi: 10.1136/jmg.33.6.518. J Med Genet. 1996. PMID: 8782056 Free PMC article.

7

The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16.

Gregory CY, Evans K, Wijesuriya SD, Kermani S, Jay MR, Plant C, Cox N, Bird AC, Bhattacharya SS. Gregory CY, et al. Among authors: bird ac. Hum Mol Genet. 1996 Jul;5(7):1055-9. doi: 10.1093/hmg/5.7.1055. Hum Mol Genet. 1996. PMID: 8817347

8

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: bird ac. Hum Mol Genet. 1998 Jul;7(7):1179-84. doi: 10.1093/hmg/7.7.1179. Hum Mol Genet. 1998. PMID: 9618177

9

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.

10

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

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