Bhattacharya SS - Search Results

1

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy.

Votruba M, Fitzke FW, Holder GE, Carter A, Bhattacharya SS, Moore AT. Votruba M, et al. Among authors: bhattacharya ss. Arch Ophthalmol. 1998 Mar;116(3):351-8. doi: 10.1001/archopht.116.3.351. Arch Ophthalmol. 1998. PMID: 9514489

2

Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.

Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC. Bessant DA, et al. Among authors: bhattacharya ss. Arch Ophthalmol. 2003 Jun;121(6):793-802. doi: 10.1001/archopht.121.6.793. Arch Ophthalmol. 2003. PMID: 12796249

3

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

4

Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype.

Evans K, Duvall-Young J, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC. Evans K, et al. Among authors: bhattacharya ss. Arch Ophthalmol. 1995 Feb;113(2):195-201. doi: 10.1001/archopht.1995.01100020079033. Arch Ophthalmol. 1995. PMID: 7864751

5

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.

Kim RY, Fitzke FW, Moore AT, Jay M, Inglehearn C, Arden GB, Bhattacharya SS, Bird AC. Kim RY, et al. Among authors: bhattacharya ss. Br J Ophthalmol. 1995 Jan;79(1):23-7. doi: 10.1136/bjo.79.1.23. Br J Ophthalmol. 1995. PMID: 7880785 Free PMC article.

6

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.

Moore AT, Fitzke F, Jay M, Arden GB, Inglehearn CF, Keen TJ, Bhattacharya SS, Bird AC. Moore AT, et al. Among authors: bhattacharya ss. Br J Ophthalmol. 1993 Aug;77(8):473-9. doi: 10.1136/bjo.77.8.473. Br J Ophthalmol. 1993. PMID: 8025041 Free PMC article.

7

Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.

Kim RY, al-Maghtheh M, Fitzke FW, Arden GB, Jay M, Bhattacharya SS, Bird AC. Kim RY, et al. Among authors: bhattacharya ss. Arch Ophthalmol. 1993 Nov;111(11):1518-24. doi: 10.1001/archopht.1993.01090110084030. Arch Ophthalmol. 1993. PMID: 8240108

8

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.

Votruba M, Moore AT, Bhattacharya SS. Votruba M, et al. Among authors: bhattacharya ss. J Med Genet. 1997 Feb;34(2):117-21. doi: 10.1136/jmg.34.2.117. J Med Genet. 1997. PMID: 9039986 Free PMC article.

9

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

10

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY.

Votruba M, Payne A, Moore AT, Bhattacharya SS. Votruba M, et al. Among authors: bhattacharya ss. Mamm Genome. 1998 Oct;9(10):784-7. doi: 10.1007/s003359900867. Mamm Genome. 1998. PMID: 9745030

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