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LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient.
Published in:
2018
By:
- Dimova, Ivanka;
- Kremensky, Ivo
Publication type:
Case Study
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
Published in:
Nature Genetics, 2004, v. 36, n. 6, p. 597, doi. 10.1038/ng1328
By:
- Irobi, Joy;
- Van Impe, Katrien;
- Seeman, Pavel;
- Jordanova, Albena;
- Dierick, Ines;
- Verpoorten, Nathalie;
- Michalik, Andrej;
- De Vriendt, Els;
- Jacobs, An;
- Van Gerwen, Veerle;
- Vennekens, Krist'l;
- Mazanec, Radim;
- Tournev, Ivailo;
- Hilton-Jones, David;
- Talbot, Kevin;
- Kremensky, Ivo;
- Van Den Bosch, Ludo;
- Robberecht, Wim;
- Vandekerckhove, Joël;
- Van Broeckhoven, Christine
Publication type:
Article
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Published in:
Nature Genetics, 2003, v. 35, n. 2, p. 185, doi. 10.1038/ng1243
By:
- Varon, Raymonda;
- Gooding, Rebecca;
- Steglich, Christina;
- Marns, Lorna;
- Tang, Hua;
- Angelicheva, Dora;
- Kiau Kiun Yong;
- Ambrugger, Petra;
- Reinhold, Anke;
- Morar, Bharti;
- Baas, Frank;
- Kwa, Marcel;
- Tourney, Ivailo;
- Guerguelcheva, Velina;
- Kremensky, Ivo;
- Lochmüller, Hanns;
- Müllner-Eidenböck, Andrea;
- Merlini, Luciano;
- Neumann, Luitgard;
- Bürger, Joachim
Publication type:
Article
Rare Mutations in the PIK3CA Gene Contribute to Aggressive Endometrial Cancer.
Published in:
DNA & Cell Biology, 2010, v. 29, n. 2, p. 65, doi. 10.1089/dna.2009.0939
By:
- Konstantinova, Darina;
- Kaneva, Radka;
- Dimitrov, Roumen;
- Savov, Alexey;
- Ivanov, Stephan;
- Dyankova, Tzvetanka;
- Kremensky, Ivo;
- Mitev, Vanio
Publication type:
Article
CHEK2 I157T and Endometrial Cancer.
Published in:
DNA & Cell Biology, 2009, v. 28, n. 1, p. 9, doi. 10.1089/dna.2008.0781
By:
- Konstantinova, Darina V.;
- Kadiyska, Tanya K.;
- Kaneva, Radka P.;
- Tosheva, Elena G.;
- Guseva, Violeta T.;
- Dimitrov, Borislav H.;
- Dimitrov, Roumen G.;
- Doganov, Nikolay I.;
- Ivanov, Stephan I.;
- Kremensky, Ivo M.;
- Mitev, Vanio I.
Publication type:
Article
Vitamin D and estrogen receptor gene polymorphisms and the risk of colorectal cancer in Bulgaria.
Published in:
International Journal of Colorectal Disease, 2007, v. 22, n. 4, p. 395, doi. 10.1007/s00384-006-0163-0
By:
- Kadiyska, Tanya;
- Yakulov, Toma;
- Kaneva, Radka;
- Nedin, Dimitar;
- Alexandrova, Alexandrina;
- Gegova, Antonina;
- Savov, Alexey;
- Mitev, Vanio;
- Kremensky, Ivo
Publication type:
Article
Positive association between a polymorphic locus near the LBX1 gene and predisposition of idiopathic scoliosis in Southeastern European population.
Published in:
Journal of Applied Biomedicine, 2019, v. 17, n. 3, p. 184, doi. 10.32725/jab.2019.011
By:
- Nikolova, Svetla;
- Dikova, Milka;
- Dikov, Dobrin;
- Djerov, Assen;
- Savov, Alexey;
- Kremensky, Ivo;
- Loukanov, Alexandre
Publication type:
Article
Positive association between the progression of idiopathic scoliosis and the common variant near the LBX1 gene in Southeast European population.
Published in:
Journal of Applied Biomedicine, 2018, v. 16, n. 4, p. 344, doi. 10.1016/j.jab.2018.07.001
By:
- Nikolova, Svetla;
- Dikova, Milka;
- Dikov, Dobrin;
- Djerov, Assen;
- Savov, Alexey;
- Kremensky, Ivo;
- Loukanov, Alexandre
Publication type:
Article
Erratum to: Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.
Published in:
2017
By:
- Dodova, Rumyana Ivanova;
- Mitkova, Atanaska Velichkova;
- Dacheva, Daniela Rosenova;
- Hadjo, Lina Basam;
- Vlahova, Alexandrina Ivanova;
- Taushanova-Hadjieva, Margarita Stoyanova;
- Valev, Spartak Stoyanov;
- Caulevska, Marija Mitko;
- Popova, Stanislava Dimitrova;
- Popov, Ivan Emilov;
- Dikov, Tihomir Iliichev;
- Sedloev, Theophil Angelov;
- Ionkov, Atanas Stefanov;
- Timcheva, Konstanta Velinova;
- Christova, Svetlana Liubomirova;
- Kremensky, Ivo Marinov;
- Mitev, Vanio Ivanov;
- Kaneva, Radka Petrova
Publication type:
journal article
Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.
Published in:
Human Genetics, 2005, v. 116, n. 4, p. 262, doi. 10.1007/s00439-004-1237-0
By:
- Buzhov, Borian T.;
- Lemmers, Richard J. L. F.;
- Tournev, Ivailo;
- Dikova, Chayka;
- Kremensky, Ivo;
- Petrova, Julia;
- Frants, Rune R.;
- van derMaarel, Silvère M.
Publication type:
Article
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 3, p. 338, doi. 10.1038/ejhg.2012.158
By:
- Kamenarova, Kunka;
- Cherninkova, Sylvia;
- Romero Durán, Margarita;
- Prescott, DeQuincy;
- Valdés Sánchez, Maria Lourdes;
- Mitev, Vanio;
- Kremensky, Ivo;
- Kaneva, Radka;
- Bhattacharya, Shomi S;
- Tournev, Ivailo;
- Chakarova, Christina
Publication type:
Article
Role of the IL-6 Gene in the Etiopathogenesis of Idiopathic Scoliosis.
Published in:
Analytical Cellular Pathology: Cellular Oncology, 2015, v. 2015, p. 1, doi. 10.1155/2015/621893
By:
- Nikolova, Svetla;
- Atanasov, Ventseslav;
- Savov, Alexey;
- Dikova, Milka;
- Dikov, Dobrin;
- Djerov, Assen;
- Dzhebir, Gyulnas;
- Kremensky, Ivo
Publication type:
Article
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 4, p. 1050
By:
- Violeta Mihaylova;
- Janina Hantke;
- Ivanka Sinigerska;
- Silvia Cherninkova;
- Margarita Raicheva;
- Sonja Bouwer;
- Radka Tincheva;
- Djako Khuyomdziev;
- Jaume Bertranpetit;
- David Chandler;
- Dora Angelicheva;
- Ivo Kremensky;
- Pavel Seeman;
- Ivailo Tournev;
- Luba Kalaydjieva
Publication type:
Article
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Published in:
Annals of Neurology, 2004, v. 55, n. 5, p. 713
By:
- Craig L. Bennett;
- Andrew J. Shirk;
- Huy M. Huynh;
- Valerie A. Street;
- Eva Nelis;
- Lionel Van Maldergem;
- Peter De Jonghe;
- Albena Jordanova;
- Velina Guergueltcheva;
- Ivailo Tournev;
- Peter Van den Bergh;
- Pavel Seeman;
- Radim Mazanec;
- Tomas Prochazka;
- Ivo Kremensky;
- Jana Haberlova;
- Michael D. Weiss;
- Vincent Timmerman
Publication type:
Article
Clinical and molecular studies of EXT1/EXT2 in Bulgaria.
Published in:
Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 917, doi. 10.1007/s10545-011-9314-8
By:
- Stancheva-Ivanova, Malina;
- Wuyts, Wim;
- Hul, Els;
- Radeva, Briguita;
- Vazharova, Radoslava;
- Sokolov, Todor;
- Vladimirov, Borislav;
- Apostolova, Margarita;
- Kremensky, Ivo
Publication type:
Article
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Published in:
PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167984
By:
- Seemanova, Eva;
- Varon, Raymonda;
- Vejvalka, Jan;
- Jarolim, Petr;
- Seeman, Pavel;
- Chrzanowska, Krystyna H.;
- Digweed, Martin;
- Resnick, Igor;
- Kremensky, Ivo;
- Saar, Kathrin;
- Hoffmann, Katrin;
- Dutrannoy, Véronique;
- Karbasiyan, Mohsen;
- Ghani, Mehdi;
- Barić, Ivo;
- Tekin, Mustafa;
- Kovacs, Peter;
- Krawczak, Michael;
- Reis, André;
- Sperling, Karl
Publication type:
Article
Investigation of predictive potential of TPH1 common polymorphism in idiopathic scoliosis.
Published in:
Journal of Clinical & Experimental Investigations, 2016, v. 7, n. 3, p. 216, doi. 10.5799/jcei.328607
By:
- Nikolova, Svetla Todorova;
- Yablanski, Vasil Tsankov;
- Vlaev, Evgeni Nedev;
- Savov, Alexey Slavkov;
- Kremensky, Ivo Marinov
Publication type:
Article
Association Study between Idiopathic Scoliosis and Polymorphic Variants of VDR, IGF-1, and AMPD1 Genes.
Published in:
Genetics Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/852196
By:
- Nikolova, Svetla;
- Yablanski, Vasil;
- Vlaev, Evgeni;
- Stokov, Luben;
- Savov, Alexey Slavkov;
- Kremensky, Ivo Marinov
Publication type:
Article
ESTABLISHING A SNP GENOTYPING AND GENE EXPRESSION CORE AT MOLECULAR MEDICINE CENTRE, MEDICAL UNIVERSITY, SOFIA.
Published in:
Advances in Bulgarian Science, 2007, v. 2, p. 22
By:
- Kremensky, Ivo;
- Kaneva, Radka;
- Mitkova, Atanaska;
- Beltcheva, Olga;
- Kamenarska, Zorniza;
- Nikolov, Momchil;
- Saraeva, Radoslava;
- Kamenarova, Kunka;
- Yordanova, Iglika;
- Angelova, Mina;
- Genova, Zivka;
- Dimitrova, Stanislava;
- Yankova, Viliana;
- Jordanova, Albena;
- Mitev, Vanyo;
- Ovcharov, Vladimir
Publication type:
Article
A case of a bloodstained amniotic fluid sample from a pregnant woman with Down syndrome analyzed by QF-PCR after low-speed centrifugation.
Published in:
Prenatal Diagnosis, 2008, v. 28, n. 5, p. 457, doi. 10.1002/pd.1992
By:
- Andonova, Silvia;
- Dimitrova, Violeta;
- Boneva, Iliana;
- Kremensky, Ivo
Publication type:
Article
Introduction of the QF-PCR analysis for the purposes of prenatal diagnosis in Bulgaria-estimation of applicability of 6 STR markers on chromosomes 21 and 18.
Published in:
Prenatal Diagnosis, 2004, v. 24, n. 3, p. 202, doi. 10.1002/pd.820
By:
- Andonova, Silvia;
- Vazharova, Radoslava;
- Dimitrova, Violeta;
- Mazneikova, Valentina;
- Toncheva, Draga;
- Kremensky, Ivo
Publication type:
Article
Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population.
Published in:
Analytical Cellular Pathology: Cellular Oncology, 2018, p. 1, doi. 10.1155/2018/6836092
By:
- Nikolova, Svetla;
- Dikova, Milka;
- Dikov, Dobrin;
- Djerov, Assen;
- Savov, Alexey;
- Kremensky, Ivo;
- Loukanov, Alexandre
Publication type:
Article
Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.
Published in:
BMC Cancer, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12885-015-1516-2
By:
- Dodova, Rumyana Ivanova;
- Mitkova, Atanaska Velichkova;
- Dacheva, Daniela Rosenova;
- Hadjo, Lina Basam;
- Vlahova, Alexandrina Ivanova;
- Taushanova-Hadjieva, Margarita Stoyanova;
- Valev, Spartak Stoyanov;
- Caulevska, Marija Mitko;
- Popova, Stanislava Dimitrova;
- Popov, Ivan Emilov;
- Dikov, Tihomir Iliichev;
- Sedloev, Theophil Angelov;
- Ionkov, Atanas Stefanov;
- Timcheva, Konstanta Velinova;
- Christova, Svetlana Liubomirova;
- Kremensky, Ivo Marinov;
- Mitev, Vanio Ivanov;
- Kaneva, Radka Petrova
Publication type:
Article
Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.
Published in:
BMC Cancer, 2015, v. 15, n. 1, p. 523, doi. 10.1186/s12885-015-1516-2
By:
- Dodova, Rumyana Ivanova;
- Mitkova, Atanaska Velichkova;
- Dacheva, Daniela Rosenova;
- Hadjo, Lina Basam;
- Vlahova, Alexandrina Ivanova;
- Taushanova - Hadjieva, Margarita Stoyanova;
- Valev, Spartak Stoyanov;
- CaulevskaCaulevska, Marija Mitko;
- Popova, Stanislava Dimitrova;
- Popov, Ivan Emilov;
- Dikov, Tihomir Iliichev;
- Sedloev, Theophil Angelov;
- Ionkov, Atanas Stefanov;
- Timcheva, Konstanta Velinova;
- Christova, Svetlana Liubomirova;
- Kremensky, Ivo Marinov;
- Mitev, Vanio Ivanov;
- Kaneva, Radka Petrova
Publication type:
Article
Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.
Published in:
2015
By:
- Dodova, Rumyana Ivanova;
- Mitkova, Atanaska Velichkova;
- Dacheva, Daniela Rosenova;
- Hadjo, Lina Basam;
- Vlahova, Alexandrina Ivanova;
- -Hadjieva, Margarita Stoyanova Taushanova;
- Valev, Spartak Stoyanov;
- Caulevska, Marija Mitko;
- Popova, Stanislava Dimitrova;
- Popov, Ivan Emilov;
- Dikov, Tihomir Iliichev;
- Sedloev, Theophil Angelov;
- Ionkov, Atanas Stefanov;
- Timcheva, Konstanta Velinova;
- Christova, Svetlana Liubomirova;
- Kremensky, Ivo Marinov;
- Mitev, Vanio Ivanov;
- Kaneva, Radka Petrova
Publication type:
journal article
A large deletion and novel point mutations in the calpain 3 gene ( CAPN3) in Bulgarian LGMD2A patients.
Published in:
Neurogenetics, 2007, v. 8, n. 3, p. 225, doi. 10.1007/s10048-007-0083-3
By:
- Todorova, Albena;
- Georgieva, Bilyana;
- Tournev, Ivailo;
- Todorov, Tihomir;
- Bogdanova, Nadja;
- Mitev, Vanyo;
- Mueller, Clemens;
- Kremensky, Ivo;
- Horst, Jürgen
Publication type:
Article
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).
Published in:
Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
By:
- Michael Hunter;
- Rafaëlle Bernard;
- Elizabeth Freitas;
- Amandine Boyer;
- Bharti Morar;
- Ian J. Martins;
- Ivailo Tournev;
- Albena Jordanova;
- Velina Guergelcheva;
- Boryana Ishpekova;
- Ivo Kremensky;
- Garth Nicholson;
- Beate Schlotter;
- Hanns Lochmüller;
- Thomas Voit;
- Jaume Colomer;
- P.K. Thomas;
- Nicolas Levy;
- Luba Kalaydjieva
Publication type:
Article
Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.
Published in:
Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
By:
- Michael Hunter;
- Rafaëlle Bernard;
- Elizabeth Freitas;
- Amandine Boyer;
- Bharti Morar;
- Ian J. Martins;
- Ivailo Tournev;
- Albena Jordanova;
- Velina Guergelcheva;
- Boryana Ishpekova;
- Ivo Kremensky;
- Garth Nicholson;
- Beate Schlotter;
- Hanns Lochmüller;
- Thomas Voit;
- Jaume Colomer;
- P.K. Thomas;
- Nicolas Levy;
- Luba Kalaydjieva
Publication type:
Article
C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian Gypsy population.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 479, doi. 10.1002/(SICI)1098-1004(200005)15:5<479::AID-HUMU10>3.0.CO;2-#
By:
- Todorova, Albena;
- Ashikov, Angel;
- Beltcheva, Olga;
- Tournev, Ivailo;
- Kremensky, Ivo
Publication type:
Article
C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian gypsy population.
Published in:
Human Mutation, 1999, v. 14, n. 1, p. 40, doi. 10.1002/(SICI)1098-1004(1999)14:1<40::AID-HUMU5>3.0.CO;2-R
By:
- Todorova, Albena;
- Ashikov, Angel;
- Beltcheva, Olga;
- Tournev, Ivailo;
- Kremensky, Ivo
Publication type:
Article
Deletion analysis of Bulgarian SMA families.
Published in:
Human Mutation, 1998, v. 12, n. 1, p. 33, doi. 10.1002/(SICI)1098-1004(1998)12:1<33::AID-HUMU5>3.0.CO;2-Y
By:
- Jordanova, Albena;
- Stoyanova, Violeta;
- Uzunova, Maria;
- Litvinenko, Ivan;
- Kremensky, Ivo
Publication type:
Article
SSCP analysis: A blind sensitivity trial.
Published in:
Human Mutation, 1997, v. 10, n. 1, p. 65, doi. 10.1002/(SICI)1098-1004(1997)10:1<65::AID-HUMU9>3.0.CO;2-L
By:
- Jordanova, Albena;
- Kalaydjieva, Luba;
- Savov, Alexey;
- Claustres, Mireille;
- Schwarz, Martin;
- Estivill, Xavier;
- Angelicheva, Dora;
- Haworth, Andrea;
- Casals, Teresa;
- Kremensky, Ivo
Publication type:
Article
2176insC: A Novel Mutation in Exon 13 of the Cystic Fibrosis Gene.
Published in:
Human Heredity, 1996, v. 46, n. 3, p. 166, doi. 10.1159/000154346
By:
- Savov, Alexey;
- Angelicheva, Dora;
- Jordanova, Albena;
- Kremensky, Ivo;
- Kalaydjieva, Luba
Publication type:
Article
Genetic analysis of haemophilia A in Bulgaria.
Published in:
BMC Blood Disorders, 2004, v. 4, p. 2
By:
- Petkova, Rumena;
- Chakarov, Stoian;
- Kremensky, Ivo
Publication type:
Article

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