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Page 1
SSCP analysis: a blind sensitivity trial.
Jordanova A, Kalaydjieva L, Savov A, Claustres M, Schwarz M, Estivill X, Angelicheva D, Haworth A, Casals T, Kremensky I. Jordanova A, et al. Hum Mutat. 1997;10(1):65-70. doi: 10.1002/(SICI)1098-1004(1997)10:1<65::AID-HUMU9>3.0.CO;2-L. Hum Mutat. 1997. PMID: 9222762
Deletion analysis of Bulgarian SMA families.
Jordanova A, Stoyanova V, Uzunova M, Litvinenko I, Kremensky I. Jordanova A, et al. Hum Mutat. 1998;12(1):33-8. doi: 10.1002/(SICI)1098-1004(1998)12:1<33::AID-HUMU5>3.0.CO;2-Y. Hum Mutat. 1998. PMID: 9633817
Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary.
Jordanova A, Kargaci V, Kremensky I, Litvinenko I, Uzunova M, Turnev I, Ishpekova B, Herzegfalvi A, Simeonova I, Kalaydjieva L. Jordanova A, et al. Neuromuscul Disord. 2002 May;12(4):378-85. doi: 10.1016/s0960-8966(01)00283-8. Neuromuscul Disord. 2002. PMID: 12062256
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: jordanova a. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 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: jordanova a. Hum Mutat. 2003 Aug;22(2):129-35. doi: 10.1002/humu.10240. Hum Mutat. 2003. PMID: 12872253
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.
Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V. Jordanova A, et al. Am J Hum Genet. 2003 Dec;73(6):1423-30. doi: 10.1086/379792. Epub 2003 Nov 6. Am J Hum Genet. 2003. PMID: 14606043 Free PMC article.
140 results