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1

Generalized Epilepsy With Febrile Seizures plus: Novel SCN1A Mutation

Petia S. Dimova, Iglika Yordanova, Veneta Bojinova, Albena Jordanova, Ivo Kremenski

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 933 KB

english, 2010

2

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.

Journal:

Year:

2010

Language:

english

File:

PDF, 329 KB

english, 2010

3

Association Between IL-6 and MMP3 Common Genetic Polymorphisms and Idiopathic Scoliosis in Bulgarian Patients

Nikolova, Svetla Todorova, Yablanski, Vasil Tsankov, Vlaev, Evgeni Nedev, Stokov, Luben Dimitrov, Savov, Alexey Slavkov, Kremensky, Ivo Marinov, Loukanov, Alexandre Roumenov

Journal:

Year:

2016

Language:

english

File:

PDF, 1.05 MB

english, 2016

4

Mutation analysis in Duchenne and Becker muscular dystrophy patients from Bulgaria shows a peculiar distribution of breakpoints by intron

Todorova, Albena, Bronzova, Juliana, Miorin, Marta, Rosa, Maurizio, Kremensky, Ivo, Danieli, Gian Antonio

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 334 KB

english, 1996

5

SSCP analysis: A blind sensitivity trial

Albena Jordanova, Luba Kalaydjieva, Alexey Savov, Mireille Claustres, Martin Schwarz, Xavier Estivill, Dora Angelicheva, Andrea Haworth, Teresa Casals, Ivo Kremensky

Journal:

Year:

1997

Language:

english

File:

PDF, 118 KB

english, 1997

6

Deletion analysis of Bulgarian SMA families

Albena Jordanova, Violeta Stoyanova, Maria Uzunova, Ivan Litvinenko, Ivo Kremensky

Journal:

Year:

1998

Language:

english

File:

PDF, 176 KB

english, 1998

7

C283Y mutation and other C-terminal nucleotide changes in the γ-sarcoglycan gene in the Bulgarian gypsy population

Albena Todorova, Angel Ashikov, Olga Beltcheva, Ivailo Tournev, Ivo Kremensky

Journal:

Year:

1999

Language:

english

File:

PDF, 311 KB

english, 1999

8

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

Albena Todorova, Angel Ashikov, Olga Beltcheva, Ivailo Tournev, Ivo Kremensky

Journal:

Year:

2000

Language:

english

File:

PDF, 60 KB

english, 2000

9

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

Albena Todorova, Dimitrina Constantinova, Ivo Kremensky

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 85 KB

english, 2003

10

550delA mutation in the calpain 3 (CAPN3) gene: DMD/BMD, SMA, or LGMD2A—clinically misdiagnosed cases

Bilyana Georgieva, Albena Todorova, Ivailo Tournev, Vanyo Mitev, Panagiotis Plageras, Ivo Kremensky

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 40 KB

english, 2005

11

Novel β-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts

Zoran S. Gucev, Velibor Tasic, Aleksandra Jancevska, Georgi Zafirovski, Ivo Kremensky, Ivanka Sinigerska, Eiji Nanba, Katsumi Higaki, Filip Gucev, Yoshiyuki Suzuki

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 225 KB

english, 2008

12

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

Michael Hunter, Rafaëlle Bernard, Elizabeth Freitas, Amandine Boyer, Bharti Morar, Ian J. Martins, Ivailo Tournev, Albena Jordanova, Velina Guergelcheva, Boryana Ishpekova, Ivo Kremensky, Garth Nichol

Journal:

Year:

2003

Language:

english

File:

PDF, 199 KB

english, 2003

13

A Screening Approach for Selection of Clones Simultaneously Mutagenized at Multiple Sites

Dimiter Demirov, Alexey Savov, Ivo Kremensky, Varban Ganev

Journal:

Analytical Biochemistry

Year:

1998

Language:

english

File:

PDF, 112 KB

english, 1998

14

Genetic analysis of haemophilia A in Bulgaria

Rumena Petkova, Stoian Chakarov, Ivo Kremensky

Journal:

BMC Blood Disorders

Year:

2004

Language:

english

File:

PDF, 552 KB

english, 2004

15

A case of a bloodstained amniotic fluid sample from a pregnant woman with Down syndrome analyzed by QF-PCR after low-speed centrifugation

Silvia Andonova, Violeta Dimitrova, Iliana Boneva, Ivo Kremensky

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 166 KB

english, 2008

16

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

Silvia Andonova, Radoslava Vazharova, Violeta Dimitrova, Valentina Mazneikova, Draga Toncheva, Ivo Kremensky

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 109 KB

english, 2004

17

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene

B. Dworniczak, L. Kalaydjieva, C. Aulehla-Scholz, K. Ullrich, I. Kremensky, B. Radeva, J. Horst

Journal:

Year:

1991

Language:

english

File:

PDF, 379 KB

english, 1991

18

Enzymes and cytomorphological sperm alterations in some diseases of the male reproductive system

M. Hlebarova, Sv. Ruscova, I. Kremensky, D. Tsvetkov, V. Kamenov

Journal:

International Urology and Nephrology

Year:

1980

Language:

english

File:

PDF, 249 KB

english, 1980

19

Vitamin D and estrogen receptor gene polymorphisms and the risk of colorectal cancer in Bulgaria

Tanya Kadiyska, Toma Yakulov, Radka Kaneva, Dimitar Nedin, Alexandrina Alexandrova, Antonina Gegova, Alexey Savov, Vanio Mitev, Ivo Kremensky

Journal:

International Journal of Colorectal Disease

Year:

2007

Language:

english

File:

PDF, 162 KB

english, 2007

20

Wilson’s disease in two consecutive generations in a Bulgarian Roma family

V. Mihaylova, T. Todorov, H. Jelev, S. Cherninkova, M. Raycheva, A. Savov, I. Kremensky, I. Tournev

Journal:

Journal of Neurology

Year:

2007

Language:

english

File:

PDF, 106 KB

english, 2007

21

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments

Borian T. Buzhov, Richard J. L. F. Lemmers, Ivailo Tournev, Chayka Dikova, Ivo Kremensky, Julia Petrova, Rune R. Frants, Silvère M. van der Maarel

Journal:

Year:

2005

Language:

english

File:

PDF, 270 KB

english, 2005

22

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

Albena Todorova, Bilyana Georgieva, Ivailo Tournev, Tihomir Todorov, Nadja Bogdanova, Vanyo Mitev, Clemens R. Mueller, Ivo Kremensky, Jürgen Horst

Journal:

Year:

2007

Language:

english

File:

PDF, 141 KB

english, 2007

23

Y-chromosomal STR haplotypes in three major population groups in Bulgaria

Boriana Zaharova, Silvia Andonova, Anja Gilissen, Jean-Jacques Cassiman, Ronny Decorte, Ivo Kremensky

Journal:

Forensic Science International

Year:

2001

Language:

english

File:

PDF, 63 KB

english, 2001

24

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

B Georgieva, A Todorova, I Tournev, V Mitev, I Kremensky

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 405 KB

english, 2004

25

Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population

T Todorov, A Savov, H Jelev, E Panteleeva, D Konstantinova, Z Krustev, V Mihaylova, I Tournev, L Tankova, N Tzolova, I Kremensky

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 67 KB

english, 2005

26

Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia

N Ivanova, A Löfgren, I Tournev, R Rousev, A Andreeva, A Jordanova, V Georgieva, T Deconinck, V Timmerman, I Kremensky, P De Jonghe, V Mitev

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 163 KB

english, 2006

27

Molecular screening for hereditary nonpolyposis colorectal cancer in Bulgaria

Tanya K. Kadiyska, Teodora E. Goranova, Ganka K. Dineva, Dimitar G. Nedin, Alexandrina B. Alexandrova, Antonina T. Gegova, Radka P. Kaneva, Damyan N. Damyanov, Ivo M. Kremensky, Vanio Iv. Mitev

Journal:

Central European Journal of Medicine

Year:

2006

Language:

english

File:

PDF, 131 KB

english, 2006

28

Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria

I. Kremensky, S. Jankova, E. Bochukova, M. Uzunova, I. Litvinenko, A. Jordanova

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 54 KB

english, 1999

29

Frequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for Hereditary Nonpolyposis Colorectal Cancer

Tanya K. Kadiyska, Darina V. Konstantinova, Venceslav R. Atanasov, Ivo M. Kremensky, Vanio I. Mitev

Journal:

Cancer Detection and Prevention

Year:

2007

Language:

english

File:

PDF, 81 KB

english, 2007

30

NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24

Michael Hunter, Dora Angelicheva, Ivailo Tournev, Evan Ingley, Dick C. Chan, Gerald F. Watts, Ivo Kremensky, Luba Kalaydjieva

Journal:

Biochemical and Biophysical Research Communications

Year:

2005

Language:

english

File:

PDF, 712 KB

english, 2005

31

One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene

Iglika Yordanova, Tihomir Todorov, Petia Dimova, Dimitrina Hristova, Radka Tincheva, Ivan Litvinenko, Olga Yotovska, Ivo Kremensky, Albena Todorova

Journal:

Neuroscience Letters

Year:

2011

Language:

english

File:

PDF, 371 KB

english, 2011

32

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

Albena Todorova, Tihomir Todorov, Bilyana Georgieva, Michaela Lukova, Velina Guergueltcheva, Ivo Kremensky, Vanyo Mitev

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 212 KB

english, 2008

33

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population

Ivanka Sinigerska, David Chandler, Vijesh Vaghjiani, Irfet Hassanova, Rebecca Gooding, Amelia Morrone, Ivo Kremensky, Luba Kalaydjieva

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 138 KB

english, 2006

34

A simple method for detection of factor V R506Q (Leiden) mutation in dried blood spots

Maria G Russeva, Peter J Janakiev, Stephen A Kirov, Iva D Paskaleva, Ivo M Kremensky, John A Penner, Houria S Hassouna, Varban S Ganev

Journal:

Clinica Chimica Acta

Year:

1999

Language:

english

File:

PDF, 200 KB

english, 1999

35

Evidence for protein splicing in the endoplasmic reticulum-Golgi intermediate compartment

D. Demirov, V. Sarafian, I. Kremensky, V. Ganev

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

1999

Language:

english

File:

PDF, 598 KB

english, 1999

36

Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary

Albena Jordanova, Veronika Kargaci, Ivo Kremensky, Ivan Litvinenko, Maria Uzunova, Ivajlo Turnev, Borjana Ishpekova, Agnes Herzegfalvi, Irina Simeonova, Luba Kalaydjieva

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 114 KB

english, 2002

37

A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)

Luba Kalaydjieva, Anna Perez-Lezaun, Dora Angelicheva, Suna Onengut, Danielle Dye, Nils U. Bosshard, Albena Jordanova, Alexei Savov, Peter Yanakiev, Ivo Kremensky, Brigitta Radeva, Joachim Hallmayer,

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 181 KB

english, 1999

38

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih-Queen Lee-Lin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou, Lefkos T. Middleton, Kumaraswamy

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 687 KB

english, 2003

39

CHEK2 I157T is not associated with an increased risk of endometrial cancer in Bulgarian patients

D. Konstantinova, T. Kadiyska, R. Kaneva, V. Guseva, E. Tosheva, B. Dimitrov, R. Dimitrov, N. Doganov, I. Kremensky, V. Mitev

Journal:

European Journal of Cancer Supplements

Year:

2008

Language:

english

File:

PDF, 85 KB

english, 2008

40

Mutation screening of BRCA1 exon 11 in Bulgarian breast cancer families

A. Mitkova, R. Dodova, A. Vlahova, T. Dikov, T. Sedloev, A. Jonkov, I. Kremensky, S. Christova, R. Kaneva

Journal:

European Journal of Cancer Supplements

Year:

2008

Language:

english

File:

PDF, 85 KB

english, 2008

41

Association analysis of XRCC1 and XRCC3 polymorphisms with normal tissue reactions after pelvic irradiation

E. Encheva, T. Lackov, I. Yordanova, A. Savov, R. Kaneva, Z. Zahariev, B. Sultanov, I. Kremensky, T. Hadjieva

Journal:

European Journal of Cancer Supplements

Year:

2008

Language:

english

File:

PDF, 89 KB

english, 2008

42

109 Implementation of qPCR and sequencing for KRAS and EGFR mutation detection in Bulgarian patients with colorectal and lung cancer

S. Bichev, S. Hristova, Y. Slavova, R. Vajarova, D. Kachakova, R. Kaneva, I. Kremensky

Journal:

European Journal of Cancer Supplements

Year:

2010

Language:

english

File:

PDF, 48 KB

english, 2010

43

748 PROSTATE CANCER RISK ASSOCIATION WITH SNP POLYMORPHIC VARIANTS OF CYP1B1 GENE IN THE BULGARIAN POPULATION

E.P. Popov, D. Kachakova, A. Mitkova, R. Kaneva, A. Vlahova, T. Dikov, C.K. Slavov, V. Mitev, I. Kremensky

Journal:

European Urology Supplements

Year:

2010

File:

PDF, 83 KB

2010

44

Transmission disequilibrium of DISC1 haplotypes in Bulgarian families with affective disorder

Ivanova, Mina Angelova, Kremensky, Ivo M., Christova, Tanya N., Kostov, Christian S., Milanova, Vihra K., Mitev, Vanio I., Kaneva, Radka P.

Journal:

Psychiatry Research

Year:

2013

Language:

english

File:

PDF, 155 KB

english, 2013

45

P1-6 Nouvelle mutation sur le gène de la PSEN1 chez une patiente atteinte de la maladie d’Alzheimer à début précoce

Mehrabian, S., Jordanova, A., Rademakers, R., Raycheva, M., Cruts, M., Kremensky, I., Van Broeckhoven, C., Traykov, L.

Journal:

Revue Neurologique

Year:

2005

Language:

french

File:

PDF, 34 KB

french, 2005

46

Genetic screening for mild cognitive impairment in people with cardiovascular risk factors

Yaneva-Sirakova, Teodora, Tarnovska-Kadreva, Rumiana, Traykov, Latchezar, Naydenov, Kiril, Zveova, Reni, Kaneva, Radka, Mitev, Vanio, Kremenski, Ivo

Journal:

Alzheimer's & Dementia

Year:

2013

Language:

english

File:

PDF, 76 KB

english, 2013

47

Rare Mutations in the PIK3CA Gene Contribute to Aggressive Endometrial Cancer

Konstantinova, Darina, Kaneva, Radka, Dimitrov, Roumen, Savov, Alexey, Ivanov, Stephan, Dyankova, Tzvetanka, Kremensky, Ivo, Mitev, Vanio

Journal:

DNA and Cell Biology

Year:

2010

Language:

english

File:

PDF, 99 KB

english, 2010

48

CHEK2 I157T and Endometrial Cancer

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, I

Journal:

DNA and Cell Biology

Year:

2009

Language:

english

File:

PDF, 76 KB

english, 2009

49

A Novel PCR—Generated DNA Probe used for Identification of the Most Common Molecular Defects Causing Severe Haemophilia A

Petkova, R.D., Chakarov, S.A., Kremensky, I.M.

Journal:

Biotechnology & Biotechnological Equipment

Year:

2008

Language:

english

File:

PDF, 721 KB

english, 2008

50

Screening for phenylketonuria in a totalitarian state.

Kalaydjieva, L, Kremensky, I

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 560 KB

english, 1992