Публикации

Публикации

 

 

  1. Todorova A, Georgieva B, Tournev I, Todorov T, Bogdanova N, Mitev V,Mueller CR, Kremensky I, Horst J. (2007) А large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. Neurogenetics 8:225-229.
  2. Todorova A, Todorov T, Georgieva B, Lukova M, Guergueltcheva V, Kremensky I, Mitev V. (2008) MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients. Neuromusc Disorders 18(8):667-670.
  3. Todorov T, Todorova A (the first two authors contributed equally), Kirov A, Dimitrov B, Carvalho R, Nygren AOH, Boneva I, Mitev V. (2009) Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA. BMJ Case Report (doi:10.1136/bcr.06.2008.0139).
  4. Todorova A, Guergueltcheva V, Genova J, Mihaylova V, Todorov T, Tchamova T, Georgieva B, Kremensky I, Tournev I, Mitev V. (2009) Molecular diagnostics if Duchenne/Becker muscular dystrophy patients by multiplex ligation-dependent probe amplification analysis and direct sequencing. Bolcan Joural of Medical Genetics 12(2):3-9.
  5. Todorov T, Todorova A (the first two authors contributed equally), Georgieva B, Mitev V. (2010) A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in Huntington Chorea and CGG repeats in Fragile X Syndrome. Molecular Biotechnology 45:150-154. 
  6. Todorov T, Todorova A (the first two authors contributed equally), Avdjieva D, Dimova P, Angelova L, Tincheva R, Mitev V. (2010) Molecular Basis of mental retardation in a sample from Bulgaria. Genetic Counseling 21(2):257-262.
  7. Todorov T, Todorova A (the first two authors contributed equally), Avdjieva D, Dimova P, Angelova L, Tincheva R and Mitev V. (2010) Clinical/molecular data of mental retardation in Bulgaria. Balkan Journal of Medical Genetics 13(2):11-25.                                                       
  8. Dimova P, Kirov A, Todorova A, Todorov T, Mitev V. (2012) A novel PCDH19 mutation inherited from unaffected mother – case report. Pediatric Neurology (In press).
 
Books:
 
1.    Chamova T, Tournev I, Todorova A. (2012) Approaches in diagnostic & care of Duchenne/Becker muscular dystrophy. Genotype-phenotype correlations in Duchenne/Becker muscular dystrophy patients. LAP, Lambert Academic Publishing. ISBN: 978-3-8473-1737-1.


 

 



обратно