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Page 1
Mutation history of the roma/gypsies.
Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L. Morar B, et al. Among authors: kalaydjieva l. Am J Hum Genet. 2004 Oct;75(4):596-609. doi: 10.1086/424759. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322984 Free PMC 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: kalaydjieva l. 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: kalaydjieva l. 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.
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Azmanov DN, Zhelyazkova S, Dimova PS, Radionova M, Bojinova V, Florez L, Smith SJ, Tournev I, Jablensky A, Mulley J, Scheffer I, Kalaydjieva L, Sander JW. Azmanov DN, et al. Among authors: kalaydjieva l. Epileptic Disord. 2010 Jun;12(2):117-24. doi: 10.1684/epd.2010.0311. Epileptic Disord. 2010. PMID: 20562086 Free 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: kalaydjieva l. 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
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: kalaydjieva 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
Origins, admixture and founder lineages in European Roma.
Martínez-Cruz B, Mendizabal I, Harmant C, de Pablo R, Ioana M, Angelicheva D, Kouvatsi A, Makukh H, Netea MG, Pamjav H, Zalán A, Tournev I, Marushiakova E, Popov V, Bertranpetit J, Kalaydjieva L, Quintana-Murci L, Comas D. Martínez-Cruz B, et al. Among authors: kalaydjieva l. Eur J Hum Genet. 2016 Jun;24(6):937-43. doi: 10.1038/ejhg.2015.201. Epub 2015 Sep 16. Eur J Hum Genet. 2016. PMID: 26374132 Free PMC article.
171 results