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Page 1
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C. Humbert C, et al. Among authors: kalaydjieva l. Am J Hum Genet. 2014 Feb 6;94(2):288-94. doi: 10.1016/j.ajhg.2013.12.017. Epub 2014 Jan 16. Am J Hum Genet. 2014. PMID: 24439109 Free PMC article.
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: kalaydjieva 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.
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: kalaydjieva 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.
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Azmanov DN, Siira SJ, Chamova T, Kaprelyan A, Guergueltcheva V, Shearwood AJ, Liu G, Morar B, Rackham O, Bynevelt M, Grudkova M, Kamenov Z, Svechtarov V, Tournev I, Kalaydjieva L, Filipovska A. Azmanov DN, et al. Among authors: kalaydjieva l. Hum Mol Genet. 2016 Oct 1;25(19):4302-4314. doi: 10.1093/hmg/ddw263. Epub 2016 Aug 9. Hum Mol Genet. 2016. PMID: 27506977
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.
Vlax Roma history: what do coalescent-based methods tell us?
Chaix R, Austerlitz F, Morar B, Kalaydjieva L, Heyer E. Chaix R, et al. Among authors: kalaydjieva l. Eur J Hum Genet. 2004 Apr;12(4):285-92. doi: 10.1038/sj.ejhg.5201126. Eur J Hum Genet. 2004. PMID: 14760363
Deleterious GRM1 mutations in schizophrenia.
Ayoub MA, Angelicheva D, Vile D, Chandler D, Morar B, Cavanaugh JA, Visscher PM, Jablensky A, Pfleger KD, Kalaydjieva L. Ayoub MA, et al. Among authors: kalaydjieva l. PLoS One. 2012;7(3):e32849. doi: 10.1371/journal.pone.0032849. Epub 2012 Mar 20. PLoS One. 2012. PMID: 22448230 Free PMC article.
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmüller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L. Hunter M, et al. Among authors: kalaydjieva l. Hum Mutat. 2003 Aug;22(2):129-35. doi: 10.1002/humu.10240. Hum Mutat. 2003. PMID: 12872253
Origins and divergence of the Roma (gypsies).
Gresham D, Morar B, Underhill PA, Passarino G, Lin AA, Wise C, Angelicheva D, Calafell F, Oefner PJ, Shen P, Tournev I, de Pablo R, Kuĉinskas V, Perez-Lezaun A, Marushiakova E, Popov V, Kalaydjieva L. Gresham D, et al. Among authors: kalaydjieva l. Am J Hum Genet. 2001 Dec;69(6):1314-31. doi: 10.1086/324681. Epub 2001 Nov 9. Am J Hum Genet. 2001. PMID: 11704928 Free PMC article.
171 results