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439 results

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Page 1
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.
Kamenarova K, Cherninkova S, Romero Durán M, Prescott D, Valdés Sánchez ML, Mitev V, Kremensky I, Kaneva R, Bhattacharya SS, Tournev I, Chakarova C. Kamenarova K, et al. Among authors: bhattacharya ss. Eur J Hum Genet. 2013 Mar;21(3):338-42. doi: 10.1038/ejhg.2012.158. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929024 Free PMC article.
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.
Kamenarova K, Corton M, García-Sandoval B, Fernández-San Jose P, Panchev V, Avila-Fernández A, López-Molina MI, Chakarova C, Ayuso C, Bhattacharya SS. Kamenarova K, et al. Among authors: bhattacharya ss. Biomed Res Int. 2013;2013:517570. doi: 10.1155/2013/517570. Epub 2013 Aug 14. Biomed Res Int. 2013. PMID: 24024198 Free PMC article.
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Coussa RG, Chakarova C, Ajlan R, Taha M, Kavalec C, Gomolin J, Khan A, Lopez I, Ren H, Waseem N, Kamenarova K, Bhattacharya SS, Koenekoop RK. Coussa RG, et al. Among authors: bhattacharya ss. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8297-305. doi: 10.1167/iovs.15-17104. Invest Ophthalmol Vis Sci. 2015. PMID: 26720483 Free PMC article.
Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
Chakarova CF, Cherninkova S, Tournev I, Waseem N, Kaneva R, Jordanova A, Veraitch BK, Gill B, Colclough T, Nakova A, Oscar A, Mihaylova V, Nikolova-Hill A, Wright AF, Black GC, Ramsden S, Kremensky I, Bhattacharya SS. Chakarova CF, et al. Among authors: bhattacharya ss. Mol Vis. 2006 Aug 11;12:909-14. Mol Vis. 2006. PMID: 16917484 Free article.
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS. Chakarova CF, et al. Among authors: bhattacharya ss. Am J Hum Genet. 2007 Nov;81(5):1098-103. doi: 10.1086/521953. Epub 2007 Sep 26. Am J Hum Genet. 2007. PMID: 17924349 Free PMC article.
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
439 results