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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: angelova l. 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.
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V, Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I. Chamova T, et al. Among authors: angelova l. Neuromuscul Disord. 2015 Sep;25(9):713-8. doi: 10.1016/j.nmd.2015.07.004. Epub 2015 Jul 13. Neuromuscul Disord. 2015. PMID: 26231298
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: angelova l. 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.
16p11.2 Duplication Syndrome - a Case Report.
Levkova M, Stoyanova M, Staneva R, Hachmeriyan M, Angelova L. Levkova M, et al. Among authors: angelova l. Folia Med (Plovdiv). 2021 Feb 28;63(1):138-141. doi: 10.3897/folmed.63.e52763. Folia Med (Plovdiv). 2021. PMID: 33650406
61 results