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LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
Azmanov DN, Dimitrova S, Florez L, Cherninkova S, Draganov D, Morar B, Saat R, Juan M, Arostegui JI, Ganguly S, Soodyall H, Chakrabarti S, Padh H, López-Nevot MA, Chernodrinska V, Anguelov B, Majumder P, Angelova L, Kaneva R, Mackey DA, Tournev I, Kalaydjieva L. Azmanov DN, et al. Among authors: kaneva r. Eur J Hum Genet. 2011 Mar;19(3):326-33. doi: 10.1038/ejhg.2010.181. Epub 2010 Nov 17. Eur J Hum Genet. 2011. PMID: 21081970 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: kaneva r. Mol Vis. 2006 Aug 11;12:909-14. Mol Vis. 2006. PMID: 16917484 Free article.
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
Angelicheva D, Tournev I, Guergueltcheva V, Mihaylova V, Azmanov DN, Morar B, Radionova M, Smith SJ, Zlatareva D, Stevens JM, Kaneva R, Bojinova V, Carter K, Brown M, Jablensky A, Kalaydjieva L, Sander JW. Angelicheva D, et al. Among authors: kaneva r. Epilepsia. 2009 Jul;50(7):1679-88. doi: 10.1111/j.1528-1167.2009.02066.x. Epub 2009 Mar 23. Epilepsia. 2009. PMID: 19400876 Free article.
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).
Hantke J, Chandler D, King R, Wanders RJ, Angelicheva D, Tournev I, McNamara E, Kwa M, Guergueltcheva V, Kaneva R, Baas F, Kalaydjieva L. Hantke J, et al. Among authors: kaneva r. Eur J Hum Genet. 2009 Dec;17(12):1606-14. doi: 10.1038/ejhg.2009.99. Epub 2009 Jun 17. Eur J Hum Genet. 2009. PMID: 19536174 Free PMC article.
A novel GEFS+ locus on 12p13.33 in a large Roma family.
Morar B, Zhelyazkova S, Azmanov DN, Radionova M, Angelicheva D, Guergueltcheva V, Kaneva R, Scheffer IE, Tournev I, Kalaydjieva L, Sander JW. Morar B, et al. Among authors: kaneva r. Epilepsy Res. 2011 Nov;97(1-2):198-207. doi: 10.1016/j.eplepsyres.2011.08.009. Epub 2011 Sep 13. Epilepsy Res. 2011. PMID: 21917424
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.
Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I, Kalaydjieva L. Guergueltcheva V, et al. Among authors: kaneva r. Am J Hum Genet. 2012 Sep 7;91(3):553-64. doi: 10.1016/j.ajhg.2012.07.019. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901947 Free PMC article.
206 results