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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: bhattacharya ss. 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.
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. 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.
Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients.
Kucinskas V, Payne AM, Ambrasiene D, Jurgelevicius V, Steponaviciƫte D, Arciuliene JV, Daktaraviciene E, Bhattacharya S. Kucinskas V, et al. Hum Hered. 1999 Mar;49(2):71-4. doi: 10.1159/000022847. Hum Hered. 1999. PMID: 10077725
Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes.
Bardien S, Ramesar R, Bhattacharya S, Greenberg J. Bardien S, et al. Hum Genet. 1997 Nov;101(1):13-7. doi: 10.1007/s004390050577. Hum Genet. 1997. PMID: 9385361
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al. Wells J, et al. Nat Genet. 1993 Mar;3(3):213-8. doi: 10.1038/ng0393-213. Nat Genet. 1993. PMID: 8485576
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. Shiels A, et al. Am J Hum Genet. 1998 Mar;62(3):526-32. doi: 10.1086/301762. Am J Hum Genet. 1998. PMID: 9497259 Free PMC article.
A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.
Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A. Mackay D, et al. Am J Hum Genet. 1997 Jun;60(6):1474-8. doi: 10.1086/515468. Am J Hum Genet. 1997. PMID: 9199569 Free PMC article.
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: bhattacharya ss. Arch Ophthalmol. 1995 Apr;113(4):451-5. doi: 10.1001/archopht.1995.01100040067029. Arch Ophthalmol. 1995. PMID: 7710395
Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees.
Votruba M, Moore AT, Bhattacharya SS. Votruba M, et al. Among authors: bhattacharya ss. Hum Genet. 1998 Jan;102(1):79-86. doi: 10.1007/s004390050657. Hum Genet. 1998. PMID: 9490303
A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
Thiselton DL, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, Bhattacharya SS, Votruba M. Thiselton DL, et al. Among authors: bhattacharya ss. Hum Genet. 2001 Nov;109(5):498-502. doi: 10.1007/s004390100600. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735024
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