Bird AC - Search Results

1

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

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 gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.

Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Wu H, et al. Among authors: bird ac. Am J Hum Genet. 2006 Sep;79(3):574-9. doi: 10.1086/507568. Epub 2006 Jul 24. Am J Hum Genet. 2006. PMID: 16909397 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

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.

Kelsell RE, Godley BF, Evans K, Tiffin PA, Gregory CY, Plant C, Moore AT, Bird AC, Hunt DM. Kelsell RE, et al. Among authors: bird ac. Hum Mol Genet. 1995 Sep;4(9):1653-6. doi: 10.1093/hmg/4.9.1653. Hum Mol Genet. 1995. PMID: 8541856

6

Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.

Kelsell RE, Evans K, Gregory CY, Moore AT, Bird AC, Hunt DM. Kelsell RE, et al. Among authors: bird ac. Hum Mol Genet. 1997 Apr;6(4):597-600. doi: 10.1093/hmg/6.4.597. Hum Mol Genet. 1997. PMID: 9097965

7

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

8

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

9

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.

10

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.

Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT. Gregory-Evans K, et al. Among authors: bird ac. Ophthalmology. 2000 Jan;107(1):55-61. doi: 10.1016/s0161-6420(99)00038-x. Ophthalmology. 2000. PMID: 10647719

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