Bhattacharya SS - Search Results

1

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.

Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, Bird AC, Malcolm S, Bitner-Glindzicz M. Blaydon DC, et al. Among authors: bhattacharya ss. Clin Genet. 2003 Apr;63(4):303-7. doi: 10.1034/j.1399-0004.2003.00058.x. Clin Genet. 2003. PMID: 12702164

2

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.

Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. Keen TJ, et al. Among authors: bhattacharya ss. Eur J Hum Genet. 2002 Apr;10(4):245-9. doi: 10.1038/sj.ejhg.5200797. Eur J Hum Genet. 2002. PMID: 12032732

3

Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.

Gregory CY, Wijesuriya S, Evans K, Jay M, Bird AC, Bhattacharya SS. Gregory CY, et al. Among authors: bhattacharya ss. J Med Genet. 1995 Mar;32(3):240-1. doi: 10.1136/jmg.32.3.240. J Med Genet. 1995. PMID: 7783180 Free PMC article.

4

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

Inglehearn CF, Tarttelin EE, Plant C, Peacock RE, al-Maghtheh M, Vithana E, Bird AC, Bhattacharya SS. Inglehearn CF, et al. Among authors: bhattacharya ss. J Med Genet. 1998 Jan;35(1):1-5. doi: 10.1136/jmg.35.1.1. J Med Genet. 1998. PMID: 9475085 Free PMC article.

5

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: bhattacharya ss. 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.

6

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: bhattacharya ss. Hum Genet. 1999 Jul-Aug;105(1-2):57-62. doi: 10.1007/s004399900110. Hum Genet. 1999. PMID: 10480356

7

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: bhattacharya ss. J Med Genet. 1999 Sep;36(9):691-3. J Med Genet. 1999. PMID: 10507726 Free PMC article.

8

Novel frameshift mutations in the RP2 gene and polymorphic variants.

Thiselton DL, Zito I, Plant C, Jay M, Hodgson SV, Bird AC, Bhattacharya SS, Hardcastle AJ. Thiselton DL, et al. Among authors: bhattacharya ss. Hum Mutat. 2000 Jun;15(6):580. doi: 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3. Hum Mutat. 2000. PMID: 10862093

9

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP. Sohocki MM, et al. Among authors: bhattacharya ss. Mol Genet Metab. 2000 Jun;70(2):142-50. doi: 10.1006/mgme.2000.3001. Mol Genet Metab. 2000. PMID: 10873396

10

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: bhattacharya ss. Eur J Hum Genet. 2000 Oct;8(10):783-7. doi: 10.1038/sj.ejhg.5200538. Eur J Hum Genet. 2000. PMID: 11039579

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