Bhattacharya SS - Search Results

1

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR. Freund CL, et al. Among authors: bhattacharya ss. Cell. 1997 Nov 14;91(4):543-53. doi: 10.1016/s0092-8674(00)80440-7. Cell. 1997. PMID: 9390563 Free article.

2

A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.

Papaioannou M, Bessant D, Payne A, Bellingham J, Rougas C, Loutradis-Anagnostou A, Gregory-Evans C, Balassopoulou A, Bhattacharya S. Papaioannou M, et al. J Med Genet. 1998 May;35(5):429-31. doi: 10.1136/jmg.35.5.429. J Med Genet. 1998. PMID: 9610810 Free PMC article.

3

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: bhattacharya ss. Hum Genet. 1999 Jan;104(1):77-82. doi: 10.1007/s004390050913. Hum Genet. 1999. PMID: 10071196

4

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS. Vithana EN, et al. Among authors: bhattacharya ss. Mol Cell. 2001 Aug;8(2):375-81. doi: 10.1016/s1097-2765(01)00305-7. Mol Cell. 2001. PMID: 11545739 Free article.

5

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, Bhattacharya SS, Khaliq S, Qasim Mehdi S, Birch DG, Harrison WR, Elder FF, Heckenlively JR, Daiger SP. Sohocki MM, et al. Among authors: bhattacharya ss. Nat Genet. 2000 Jan;24(1):79-83. doi: 10.1038/71732. Nat Genet. 2000. PMID: 10615133 Free PMC article.

6

Assignment of BCL2L11 to human chromosome band 2p13 with somatic cell and radiation hybrids.

Murray S, Halford S, Ebenezer ND, Gregory-Evans CY, Bhattacharya SS. Murray S, et al. Among authors: bhattacharya ss. Cytogenet Cell Genet. 2001;92(3-4):353. doi: 10.1159/000056930. Cytogenet Cell Genet. 2001. PMID: 11435715 No abstract available.

7

An analysis of ABCR mutations in British patients with recessive retinal dystrophies.

Papaioannou M, Ocaka L, Bessant D, Lois N, Bird A, Payne A, Bhattacharya S. Papaioannou M, et al. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):16-9. Invest Ophthalmol Vis Sci. 2000. PMID: 10634594 Free article.

8

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: bhattacharya ss. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002

9

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS. Berry V, et al. Among authors: bhattacharya ss. Eur J Hum Genet. 2013 Dec;21(12):1356-60. doi: 10.1038/ejhg.2013.52. Epub 2013 Mar 27. Eur J Hum Genet. 2013. PMID: 23531866 Free PMC article.

10

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.

Evans K, Fryer A, Inglehearn C, Duvall-Young J, Whittaker JL, Gregory CY, Butler R, Ebenezer N, Hunt DM, Bhattacharya S. Evans K, et al. Nat Genet. 1994 Feb;6(2):210-3. doi: 10.1038/ng0294-210. Nat Genet. 1994. PMID: 8162077

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