Todorova A - Search Results

1

A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss.

Bogdanova N, Horst J, Chlystun M, Croucher PJ, Nebel A, Bohring A, Todorova A, Schreiber S, Gerke V, Krawczak M, Markoff A. Bogdanova N, et al. Among authors: todorova a. Hum Mol Genet. 2007 Mar 1;16(5):573-8. doi: 10.1093/hmg/ddm017. Epub 2007 Mar 5. Hum Mol Genet. 2007. PMID: 17339269

2

Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.

Bogdanova N, Markoff A, Eisert R, Wermes C, Pollmann H, Todorova A, Chlystun M, Nowak-Göttl U, Horst J. Bogdanova N, et al. Among authors: todorova a. Hum Mutat. 2007 Jan;28(1):54-60. doi: 10.1002/humu.20403. Hum Mutat. 2007. PMID: 16972227

3

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.

Bogdanova N, Markoff A, Pollmann H, Nowak-Göttl U, Eisert R, Wermes C, Todorova A, Eigel A, Dworniczak B, Horst J. Bogdanova N, et al. Among authors: todorova a. Hum Mutat. 2005 Sep;26(3):249-54. doi: 10.1002/humu.20208. Hum Mutat. 2005. PMID: 16086318

4

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.

Todorova A, Georgieva B, Tournev I, Todorov T, Bogdanova N, Mitev V, Mueller CR, Kremensky I, Horst J. Todorova A, et al. Neurogenetics. 2007 Aug;8(3):225-9. doi: 10.1007/s10048-007-0083-3. Epub 2007 Feb 23. Neurogenetics. 2007. PMID: 17318636

5

C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population.

Todorova A, Ashikov A, Beltcheva O, Tournev I, Kremensky I. Todorova A, et al. Hum Mutat. 1999;14(1):40-4. doi: 10.1002/(SICI)1098-1004(1999)14:1<40::AID-HUMU5>3.0.CO;2-R. Hum Mutat. 1999. PMID: 10447257

6

Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis.

Todorova A, Danieli GA. Todorova A, et al. Hum Mutat. 1997;9(6):537-47. doi: 10.1002/(SICI)1098-1004(1997)9:6<537::AID-HUMU7>3.0.CO;2-Z. Hum Mutat. 1997. PMID: 9195228

7

MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.

Todorova A, Todorov T, Georgieva B, Lukova M, Guergueltcheva V, Kremensky I, Mitev V. Todorova A, et al. Neuromuscul Disord. 2008 Aug;18(8):667-70. doi: 10.1016/j.nmd.2008.06.369. Epub 2008 Jul 23. Neuromuscul Disord. 2008. PMID: 18653336

8

C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community.

Georgieva B, Todorova A, Tournev I, Mitev V, Kremensky I. Georgieva B, et al. Among authors: todorova a. Clin Genet. 2004 Nov;66(5):467-72. doi: 10.1111/j.1399-0004.2004.00335.x. Clin Genet. 2004. PMID: 15479193

9

Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the Dystrophin gene: the possible role of repeated motifs in mutation generation.

Todorova A, Constantinova D, Kremensky I. Todorova A, et al. Am J Med Genet A. 2003 Jul 1;120A(1):5-7. doi: 10.1002/ajmg.a.10264. Am J Med Genet A. 2003. PMID: 12794683

10

Screening for C283Y gamma-sarcoglycan mutation in a high-risk group of Bulgarian Gypsies: evidence for a geographical localization and a non-random distribution among Gypsy subgroups.

Todorova A, Tournev I, Ninova N, Georgieva V, Kremensky I. Todorova A, et al. Community Genet. 2002;5(4):217-21. doi: 10.1159/000066687. Community Genet. 2002. PMID: 14960875

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