Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene
Suls, A, Velizarova, R, Yordanova, I, Deprez, L, Van Dyck, T, Wauters, J, Guergueltcheva, V, Claes, L R F, Kremensky, I, Jordanova, A, De Jonghe, P
Published in Neurology (06.07.2010)
Published in Neurology (06.07.2010)
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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease
Jordanova, A., De Jonghe, P., Boerkoel, C. F., Takashima, H., De Vriendt, E., Ceuterick, C., Martin, J.‐J., Butler, I. J., Mancias, P., Papasozomenos, S. Ch, Terespolsky, D., Potocki, L., Brown, C. W., Shy, M., Rita, D. A., Tournev, I., Kremensky, I., Lupski, J. R., Timmerman, V.
Published in Brain (London, England : 1878) (01.03.2003)
Published in Brain (London, England : 1878) (01.03.2003)
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Microsatellite instability and promoter hypermethylation of MLH1 and MSH2 in patients with sporadic colorectal cancer
Vlaykova, T, Mitkova, A, Stancheva, G, Kadiyska, T, Gulubova, M, Yovchev, Y, Cirovski, G, Chilingirov, P, Damyanov, D, Kremensky, I, Mitev, V, Kaneva, R
Published in Journal of B.U. ON. (01.04.2011)
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Published in Journal of B.U. ON. (01.04.2011)
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Wilson's disease in two consecutive generations in a Bulgarian Roma family
Mihaylova, V, Todorov, T, Jelev, H, Cherninkova, S, Raycheva, M, Savov, A, Kremensky, I, Tournev, I
Published in Journal of neurology (01.10.2007)
Published in Journal of neurology (01.10.2007)
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Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population
Todorov, T, Savov, A, Jelev, H, Panteleeva, E, Konstantinova, D, Krustev, Z, Mihaylova, V, Tournev, I, Tankova, L, Tzolova, N, Kremensky, I
Published in Clinical genetics (01.11.2005)
Published in Clinical genetics (01.11.2005)
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109 Implementation of qPCR and sequencing for KRAS and EGFR mutation detection in Bulgarian patients with colorectal and lung cancer
Bichev, S, Hristova, S, Slavova, Y, Vajarova, R, Kachakova, D, Kaneva, R, Kremensky, I
Published in European journal of cancer supplements (2010)
Published in European journal of cancer supplements (2010)
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Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia
Ivanova, N, Löfgren, A, Tournev, I, Rousev, R, Andreeva, A, Jordanova, A, Georgieva, V, Deconinck, T, Timmerman, V, Kremensky, I, De Jonghe, P, Mitev, V
Published in Clinical genetics (01.12.2006)
Published in Clinical genetics (01.12.2006)
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CHEK2 I157T and colorectal cancer in Bulgaria
Konstantinova, D, Kadiyska, T, Sokolova, V, Kaneva, R, Mirchev, M, Savov, A, Aleksandrova, A, Nedin, D, Kostadinov, E, Damyanov, D, Kremensky, I, Mitev, V
Published in Journal of B.U. ON. (01.04.2010)
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Published in Journal of B.U. ON. (01.04.2010)
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Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing
Todorova, A, Guergueltcheva, V, Genova, J, Mihaylova, V, Todorov, T, Tchamova, T, Georgieva, B, Kremensky, I, Tournev, I, Mitev, V
Published in Balkan journal of medical genetics (01.01.2009)
Published in Balkan journal of medical genetics (01.01.2009)
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Mutation screening of BRCA1 exon 11 in Bulgarian breast cancer families
Mitkova, A, Dodova, R, Vlahova, A, Dikov, T, Sedloev, T, Jonkov, A, Kremensky, I, Christova, S, Kaneva, R
Published in European journal of cancer supplements (2008)
Published in European journal of cancer supplements (2008)
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CHEK2 I157T is not associated with an increased risk of endometrial cancer in Bulgarian patients
Konstantinova, D, Kadiyska, T, Kaneva, R, Guseva, V, Tosheva, E, Dimitrov, B, Dimitrov, R, Doganov, N, Kremensky, I, Mitev, V
Published in European journal of cancer supplements (2008)
Published in European journal of cancer supplements (2008)
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Association analysis of XRCC1 and XRCC3 polymorphisms with normal tissue reactions after pelvic irradiation
Encheva, E, Lackov, T, Yordanova, I, Savov, A, Kaneva, R, Zahariev, Z, Sultanov, B, Kremensky, I, Hadjieva, T
Published in European journal of cancer supplements (2008)
Published in European journal of cancer supplements (2008)
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Ethnic specific background of mutations in Bulgarian patients with Wilson disease
Todorov, T, Savov, A, Mihaylova, V, Buettner, J, Koseva, O, Krustev, Z, Jelev, H, Tournev, I, Penkov, V, Konstantinova, D, Tankova, L, Tzolova, N, Kremensky, I, Schmidt, H
Published in Genetic counseling (01.01.2007)
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Published in Genetic counseling (01.01.2007)
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Evidence for protein splicing in the endoplasmic reticulum-Golgi intermediate compartment
Demirov, D., Sarafian, V., Kremensky, I., Ganev, V.
Published in Biochimica et biophysica acta (11.01.1999)
Published in Biochimica et biophysica acta (11.01.1999)
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Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation
Mihaylova, V., Hantke, J., Sinigerska, I., Cherninkova, S., Raicheva, M., Bouwer, S., Tincheva, R., Khuyomdziev, D., Bertranpetit, J., Chandler, D., Angelicheva, D., Kremensky, I., Seeman, P., Tournev, I., Kalaydjieva, L.
Published in Brain (London, England : 1878) (21.11.2006)
Published in Brain (London, England : 1878) (21.11.2006)
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Microsatellite instability in Bulgarian patients with endometrial cancer
Konstantinova, D V, Kadiyska, T K, Kaneva, R P, Ivanov, S I, Dimitrov, R G, Dyankova, T V, Meinhardt, K P, Gulubova, M V, Vlaykova, T I, Doganov, N I, Mitev, V I, Kremensky, I M
Published in Journal of B.U. ON. (01.01.2007)
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Published in Journal of B.U. ON. (01.01.2007)
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