| 2013 | Albena Todorova, Ivan Litvinenko, Tihomir Todorov, Radka Tincheva, Daniela Avdjieva, Savina Tincheva, Vanyo Mitev
: A family with fragile X syndrome, Duchenne
muscular dystrophy and ichthyosis transmitted
by an asymptomatic carrier. In: Clinical Genetics, doi: 10.1111/cge.12148, 2013, |
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| 2012 | Albena Todorova, Tihomir Todorov, Cristina Motoescu, Petya Dimova, Daniela Iancu, Dana Craiu, Daniela Stoian, Ligia Barbarii, Veneta Bojinova, Vanyo Mitev: Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis. In: Mutation research, 2012, 69-72 |
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| 2010 | Tihomir Todorov, Albena Todorova, Biliyana Georgieva, Vanyo Mitev
: 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. . In: Molecular Biotechnology , 2010, 150-154 |
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| 2010 | Tihomir Todorov, Albena Todorova, Daniela Avdjieva, Petya Dimova, Lyudmila Angelova, Radka Tincheva, Vanyo Mitev
: Clinical/molecular data of mental retardation in Bulgaria. In: Balkan Journal of Medical Genetics , 2010, 11-25 |
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| 2010 | Tihomir Todorov, Albena Todorova, Daniela Avdjieva, Petya Dimova, Lyudmila Angelova, Radka Tincheva, Vanyo Mitev
: Molecular Basis of mental retardation in a sample from Bulgaria. In: Genetic Counseling , 2010, 257-262 |
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| 2009 | T. Todorov, Albena Todorova, A. Kirov, B. Dimitrov, R. Carvalho, AOH Nygren, I. Boneva, V. Mitev Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA.
. In: BMJ Case Report
(doi:10.1136/bcr.06.2008.0139), 2009, |
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| 2009 | Albena Todorova, Velina Guergueltcheva, Jivka Genova, Violeta Mihaylova,Tihomir Todorov, Teodora Tchamova, Biliyana Georgieva, Ivo Kremensky, Ivailo Tournev, Vanyo Mitev Molecular diagnostics if Duchenne/Becker muscular dystrophy patients by multiplex ligation-dependent probe amplification analysis and direct sequencing. In: Balkan Journal of Medical Genetics, 2009, 3-9 |
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| 2008 | Albena Todorova, T. Todorov, B. Georgieva, M. Lukova, V. Guergueltcheva, I. Kremensky, V. Mitev: (2008) MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.
. In: Neuromusc Disorders
, 2008, 667-670 |
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| 2007 | Albena Todorova, B. Georgieva, I. Tournev, T. Todorov, N. Bogdanova, V. Mitev, CR Mueller, I. Kremensky, J. Horst А large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.. In: Neurogenetics, 2007, 225-229 |
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| 2007 | N. Bogdanova, J. Horst, M. Chlystun, P.J. Croucher, A. Nebel, A. Bohring, Albena Todorova, S. Schreiber V. Gerke, M. Krawczak, A. Markoff A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss. . In: Hum Mol Genet., 2007, 573-578 |
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| 2007 | Bogdanova N, Markoff A, Eisert R, Wermes C, Pollmann H, Todorova A, Chlystun M, Nowak-Gottl U, Horst J.: Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.
(2007)
Hum Mutat. 28(1):54-60.
. In: Human Mutation, 2007, 54-60 |
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| 2006 | Todorova Albena, Halliger-Keller B, Kress W, Tournev I, Dabauvalle MC, Kremensky I, Mueller CR The mutation spectrum of the lamin A/C gene (LMNA): A single gene-multiple diseases. . In: Marlene A. Horry
, Progress in Medical Genetics . Nova Science Publishers, Inc., 2006. 229-257 |
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| 2005 | B. Georgieva, Albena Todorova, I. Tournev, V. Mitev, P. Plageras, I. Kremensky: 550delA mutation in the calpain 3(CAPN3) gene: DMD/BMD, SMA or LGMD2A-clinically misdiagnosed cases. In: Am J Med Genet A, 2005, 399-400 |
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| 2005 | Albena Todorova, Wolfram Kress, Clemens R. Müller: Novel mutations in the calpain 3 gene in Germany. In: Clin Genet , 2005, 356-358 |
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| 2005 | N. Bogdanova, A. Markoff, H. Pollmann, U. Nova-Gottl, R. Eisert, C. Wermes, Albena Todorova, A. Eigel, B. Dworniczak, J. Horst: Spectrum of mulecular defects and mutation detection rate in patients with severe hemophilia A. In: Hum Mutat, 2005, 249-254 |
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| 2003 | Albena Todorova, Birgit Halliger-Keller, Maggie C. Walter, Marie-Christine Dabauvalle, Hanns Lochmuller, Clemens R. Muller: A synonymous codon change in the LMNA gene alters mRNA splicing and couses Limb Girdle Muscular Dystrophy type 1B. In: J Med Genet, 2003, e115 |
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| 2002 | Albena Todorova, I. Tournev, N. Ninova, V. Georgieva, I. Kremensky: Sceening for C283Y gamma-sarcoglycan mutation in high risk group of Bulgarian Gypsies: Evidence for geographical localization and non-random distribution among Gypsy subgroups. In: Community Genetics, 2002, 217-221 |
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