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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.
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
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.
Hardcastle AJ, Thiselton DL, Van Maldergem L, Saha BK, Jay M, Plant C, Taylor R, Bird AC, Bhattacharya S. Hardcastle AJ, et al. Among authors: bird ac. Am J Hum Genet. 1999 Apr;64(4):1210-5. doi: 10.1086/302325. Am J Hum Genet. 1999. PMID: 10090907 Free PMC article. No abstract available.
Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q.
Kelsell RE, Gregory-Evans K, Gregory-Evans CY, Holder GE, Jay MR, Weber BH, Moore AT, Bird AC, Hunt DM. Kelsell RE, et al. Among authors: bird ac. Am J Hum Genet. 1998 Jul;63(1):274-9. doi: 10.1086/301905. Am J Hum Genet. 1998. PMID: 9634506 Free PMC article. No abstract available.
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.
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
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
Inglehearn CF, Carter SA, Keen TJ, Lindsey J, Stephenson AM, Bashir R, al-Maghtheh M, Moore AT, Jay M, Bird AC, et al. Inglehearn CF, et al. Among authors: bird ac. Nat Genet. 1993 May;4(1):51-3. doi: 10.1038/ng0593-51. Nat Genet. 1993. PMID: 8513323
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.
Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.
Lester DH, Inglehearn CF, Bashir R, Ackford H, Esakowitz L, Jay M, Bird AC, Wright AF, Papiha SS, Bhattacharya SS. Lester DH, et al. Among authors: bird ac. Am J Hum Genet. 1990 Sep;47(3):536-41. Am J Hum Genet. 1990. PMID: 2393026 Free PMC article.
Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ. Zito I, et al. Among authors: bird ac. Hum Genet. 1999 Jul-Aug;105(1-2):57-62. doi: 10.1007/s004399900110. Hum Genet. 1999. PMID: 10480356
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