vol 9
Number 3&4, 2006
9/20/2006
Front cover page: Golden mask, Trebenista, Republic of Macedonia, 6-5 century B.C.

Back cover page: St George killing the dragon, silver alloy, 19th century A.D., Skopje, Republic of Macedonia
Cover design:
PP102. THE ANALYSIS OF CYTOKINE GENES POLYMORPHISM IN ASTHMA PATIENTS AND HEALTHY DONORS FROM VOLGA-URAL REGION OF RUSSIA
A. IZMAYLOVA1, A. Karunas2, A. Khuzina2, S. Zagidullin1, E. Khusnutdinova2 1. Bashkir Medical State University, Russia, 2. Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Russia e-mail: carunas@list.ru
page: 93
PP109. ASSOCIATION ANALYSIS OF THE INTERFERON-GAMMA GENE POLYMORPHISM WITH ALLERGIC RHINITIS IN VOLGA-URAL REGION OF RUSSIA
A. KHUZINA1, A. Karunas1, A. Biktasheva2, A. Yuldasheva3, E. Etkina2, E. Khusnutdinova1 1. Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Russia, 2. Bashkir Medical State University, Russia 3. Pediatric polyclinic N1, Ufa, Russia e-mail: Hiame@mail.ru
page: 97
PP108. POLYMORPHISMS OF THE INTERLEUKIN-1 RECEPTOR ANTAGONIST GENE AND THE INTERLEUKIN-1Β GENE IN PATIENTS WITH CHRONIC RHINOSINUSITIS FROM BASHKORTOSTAN
E. SHARIPOVA1,2, L. Aznabaeva1, N. Arefyeva1, A. Zainullina2, E. Khusnutdinova2 1. Department of otorhinolaringology, Bashkir State Medical University 2. Department of Human Genomics, Institute of Biochemistry and Genetics, Ufa Scientific Center of Russian Academy of Sciences e-mail: peppy14@rambler.ru
page: 96
PP107. MOLECULAR ANALYSIS OF MTRNR1 AND MTTS1 GENES IN PATIENTS WITH SUDDENLY DEAFNESS FROM RUSSIA
TAZETDINOV ANDREY MAULETZYANOVICH, Dzhemileva Lilya Useinovna, Ponidelko Sergey Nikolaevich, Khusnutdinova Elza Kamilevna Institute of Biochemistry and Genetics, Ufa Scientific Center Russian academy of science; Military-medical academy, Sankt-Petersburg e-mail: tazetdin_andrey@mail.ru
page: 96
PP106. ASSOCIATION OF CYTOKINE GENES POLYMORPHISMS WITH ESSENTIAL HYPERTENSION IN TATARS FROM RUSSIA
Y.R. TIMASHEVA1, T.R. Nasibullin1, A.N. Zakirova2, O.E. Mustafina1 1. Institute of Biochemistry and Genetics of Ufa Scientific Centre of Russian Academy of Science 2. Bashkir State Medical University e-mail: ianina_t@yahoo.com
page: 95
PP105. MATRIX METALLOPROTEINASE POLYMORPHISMS IN PATIENTS WITH COPD
M. STANKOVIC1, Lj. Rakicevic1, M. Mitic-Milikic2, Lj. Nagorni-Obradovic2, N. Petrovic-Stanojevic3, M. Andjelic3, V. Dopudja-Pantic3, M. Surlan3, I. Vujicic3, D. Ponomarov3, D. Radojkovic1 1. Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro 2. Institute for Tuberculosis and Lung Disease, University Clinical Center of Serbia, Belgrade, Serbia and Montenegro 3. Department of Pulmonology, University Clinical Center Zvezdara, Belgrade, Serbia and Montenegro e-mail: marijamst@yahoo.com
page: 95
PP98. MITOCHONDRIAL TARGETING SEQUENCE POLYMORPHISM OF MANGANESE SUPEROXIDE DISMUTASE (SOD2) IN PATIENTS WITH MIGRAINE
IBRAHIM TEKEDERELI1 Atilla Ilhan2 Huseyin Yuce1 Bunyamin Isik3 Hasan Alacam4 Halit Elyas1 Omer Akyol4 1. Firat University Medical Faculty, Department of Medical Biology and Genetics, Elazig, TURKEY 2. Fatih University Medical Faculty, Departments of Neurology, Ankara, TURKEY 3. Fatih University Medical Faculty, Departments of Family Medicine, Ankara, TURKEY 4. Hacettepe University Medical Faculty, Department of Biochemistry, Ankara, TURKEY e-mail: itekedereli@yahoo.com
page: 91
PP103. IDENTIFICATION OF COMPLEX ALLELES IN TWO CYSTIC FIBROSIS PATIENTS FROM SERBIA AND MONTENEGRO
D. RADIVOJEVIC1, M. Djurisic1, T. Lalic1, M. Guc-Scekic1, P. Minic1, A. Sovtic1, M. Tzetis2, E. Kanavakis2 1. Mother and Child Health Institute of Serbia Dr Vukan Cupic, Belgrade, Serbia and Montenegro 2. Department of Medical Genetics, University of Athens, Athens, Greece e-mail: badane@beotel.yu
page: 94
PP101. GENETIC POLYMORPHISM OF GLUTATHIONE-S-TRANSFERASE T1 AND M1 IN THE NEWBORNS WITH INFANT RESPIRATORY DISTRESS SYNDROME (IRDS) IN UKRAINIAN POPULATION
N. G. Gorovenko, Z.I. Rossokha, S.V.Podolskaya Department of Medical Genetics, National Medical Academy for Postgraduate Education named after P.L. Shupyk e-mail: rossokhazoya@mail.ru
page: 93
PP100. RELATIONSHIP BETWEEN BODY DYSMORPHIC DISORDER AND GENETIC POLYMORPHISM OF CATALASE: A PRELIMINARY STUDY
MURAT KARA1, Ibrahim Tekedereli1, Bilge Kara2, Murad Atmaca2, Halit Elyas1 1. Department of Medical Biology and Genetics, College of Medicine, Firat University, Elazig, Turkey 2. Department of Psychiatry, College of Medicine, Firat University, Elazig, Turkey e-mail: dr_muratkara@yahoo.com
page: 92
PP99. NOVEL ETHNIC SPECIFIC MUTATIONS IN BULGARIAN PATIENTS WITH WILSON DISEASE
THEODOR TODOROV1, Aleksey Savov1, Violeta Mihaylova2, Zaharii Krustev3, Hristo Jelev4, Ivailo Tournev2, Veselin Penkov5, Dimitrina Konstantinova6, Ljudmila Tankova7, Nadejda Tzolova7 and Ivo Kremensky1. 1. Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynecology, Medical University, Sofia; 2. Department of Neurology, University Hospital "Alexandrovska", Sofia 3. Department of Gastroenterology, University Hospital "St. Ivan Rilski", Sofia 4. Department of Cell Biology Histology and Embryology, University "St. Kliment Ohridski", Sofia 5. Department of Pediatrics, Medical University, Sofia; 6. Department of Pediatrics and Medical Genetics, Medical University, Varna 7. Department of Gastroenterology, University Hospital "Queen Joanne", Sofia e-mail: theodor_todorov@hotmail.com
page: 91
PP110. INVESTIGATION ON THE EXPRESSION OF PROTEIN P53 IN THE DEVELOPMENT OF LEFT VENTRICULAR HYPERTROPHY IN RATS
V STOYANOVA1, E Ghenev1, N Zhelev2 1. Department of Pediatrics and Medical Genetics, Medical University, Plovdiv, Bulgaria; 2. School of Contemporary Sciences, University of Abertay Dundee, Dundee, Scotland e-mail: vi1sto@yahoo.com
page: 97
PP120. COMPOUND HETEROZYGOSITY FOR HEMOGLOBIN KNOSSOS AND IVS-I-6 MUTATION IN A MACEDONIAN BOY
STANOJEVIC E.1, Glamocanin S.2, Plaseska-Karanfilska D.1, Efremov G.D.1 1Macedonian Academy of Science and Arts, Research Center for Genetic Engineering and Biotehnology Skopje, Republic of Macedonia; 2 Pediatric Clinic, Faculty of Medicine, Skopje, Republic of Macedonia
page: 102
PP104. POSSIBLE FAMILIAL ANTIPHOSPHOLIPID SYNDROME - CASE STUDY
D. POPOVIC-KUZMANOVIC1, I. Novakovic2, D. Mikovic3, N. Maksimovic2, Lj. Stojanovic1, D. Mirkovic4, Lj. Lukovic2, I. Aksentijevic5 and M. Krajinovic2 1. Bezanijska Kosa, University Medical Center; 2. Institute of Biology and Human Genetics, School of Medicine; 3. Blood Transfusion Institute; 4. Institute of Biochemistry, KCS, Belgrade, Serbia; 5. National Institutes of Health, Arthritis and Rheumatism Branch, Bethesda, USA E-mail: kuzmandz@verat.net
page: 94
PP111. POLYMORPHISM OF CANDIDATES CARDIOVASCULAR DISEASES GENES IN TATARS WITH AGE GRADATION
V.V. DANILOVA, I.A. Tuktarova , A.Kh. Asilguzhina, O.E. Mustafina Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, Russia, danivera@mail.ru e-mail: danivera@mail.ru
page: 98
PP113. THE IL6 -572G/C AND IL12B -1159C/A POLYMORPHISMS AND TYPE 1 DIABETES MELLITUS IN TATARS OF BASHKORTOSTAN
BALHIYAROVA Z., Morugova T., Avzaletdinova D., Mustafina O. Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences Bashkir State Medical University, Endocrinology Department e-mail: JaNe125@yandex.ru
page: 99
PP115. MTHFR GENE POLYMORPHISMS IN RENAL TRANSPLANTED PATIENTS
NELA MAKSIMOVIC1, S. Jovicic2, D. Mirkovic3, I. Novakovic1, S. Simic-Ogrizovic2 1. Institute of Biology and Human Genetics, School of Medicine, 2. Institute of Nephrology, CCS, 3. Institute of Medical Biochemistry, CCS, Belgrade, Serbia e-mail: novivana@eunet.yu
page: 100
PP116. MTHFR C677T MUTATION AND MALE INFERTILITY IN SERBIA
A. NESTOROVIC1, V. Djordjevic1, M. Ljujic1, M. Ristanovic2, C. Tulic3, N. Radunovic4, M. Vasiljevic5, A. Nikolic1 1. Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro; 2. Institute of Human Genetics, Medical Faculty, University of Belgrade, Belgrade, Serbia and Montenegro; 3. Institute of Urology, Clinical Center of Serbia, Medical Faculty, University of Belgrade, Belgrade, Serbia and Montenegro; 4. Institute of Gynecology and Obstetrics, Clinical Center of Serbia, Medical Faculty, University of Belgrade, Belgrade, Serbia and Montenegro; 5. Institute of Gynecology and Obstetrics "Narodni front", Medical Faculty, University of Belgrade, Belgrade, Serbia and Montenegro e-mail: qwert@eunet.yu
page: 100
PP117. ANALYSIS OF MTHFR, ENOS AND TPA GENES POLYMORPHISMS IN WOMEN WITH PREECLAMPSIA FROM RUSSIA
I. ZAINULLIN1,2, V. Kulavsky2, A. Zainullina1, E. Khusnutdinova1 1. Institute of Biochemistry and Genetics, Ufa Scientific Center of Russian Academy of Sciences 2. Bashkir State Medical University e-mail: club_hf@mail.ru
page: 101
PP97. ROLE OF MATRIX METALLOPROTEINASE-3 IN BIPOLAR AFFECTIVE DISORDER
EMINE BILGE, Ismail Cem Kucukali, Elif Ozkok, Makbule Aydin, Duygun Tekin, Zeynep Ozbek, Ihsan Kara Department of Neuroscience, Institute of Experimental Medicine Research, Istanbul University, Istanbul, Turkey. Erenkoy Psychiatric and Neurological Disorders Hospital, Erenkoy, Istanbul, Turkey. Eyup State Hospital, Istanbul, Turkey. e-mail: eminebilge@hotmail.com
page: 90
PP119. A RARE WORLDWIDE MUTATION WAS ADDED TO THE MUTATIONAL SPECTRUM OF ß GLOBIN GENE IN THE ROMANIAN POPULATION
Laudy Cherry1, LETITIA DAN1, Rodica Talmaci1, Daniel Coriu2, Cimponeriu Danut1, Pompilia Apostol1, Dana Usurelu1, Lucian Gavrila1 1 Human Genetics Department, Genetics Institute of Bucharest University 2 Hematology Department, Fundeni Clinical Institute, Bucharest, ROMANIA e-mail: letitia@botanic.unibuc.ro
page: 102
PP88. SPECTRUM OF MUTATIONS IN THE LMNA GENE, CAUSING MUSCULAR DYSTROPHY WITH CONDUCTION SYSTEM DISEASE (EDMD-AD OR LGMD1B)
TIHOMIR TODOROV 1, A. Todorova 1, 2, B. Halliger-Keller 2, W. Kress 2, I. Tournev 3, M-C. Dabauvalle 4, I. Kremensky 1, C.R. Mueller 2 1. National Genetic Laboratory, Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynecology, Sofia Medical University, Sofia, Bulgaria 2. Department of Human Genetics, Biozentrum, University of Wuerzburg, Wuerzburg, Germany 3. Clinic of Neurology, Alexandrovska Hospital, Sofia Medical University, Sofia, Bulgaria 4. Department of Cell and Developmental Biology, Biozentrum, University of Wuerzburg, Wuerzburg, Germany e-mail: todorova@medfac.acad.bg
page: 87
PP121. HAPLOTYPE DIVERSITY OF BETA-GLOBIN GENES IN SERBIA
S. PAVLOVIC, B. Petrucev, N. Tosic, M. Stojiljkovic, T. Karan-Djurasevic, T. Kostic Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro e-mail: sonya@sezampro.yu
page: 102
PP122. THE CYP1A2 AND NQO1 GENOTYPES ARE POSSIBLE FACTORS CAUSING CHEMICAL INDUCED ABNORMAL LIVER FUNCTION
O.V. KOCHETOVA Institute of Biochemistry and Genetics, Ufa, Russian Federation e-mail: Olga_makarova78@mail.ru
page: 103
PP123. DETECTION OF CYP21 MUTATIONS IN CONGENITAL ADRENAL HYPERPLASIA
V. ANASTASOVSKA, S. Koceva and M. Kocova Cytogenetic Laboratory, Department for Endocrinology and genetics, Pediatric Clinic, Medical faculty, Skopje, Republic of Macedonia e-mail: violetaanastasovska@yahoo.com
page: 103
PP124. A NEW FAMILIAL MUTATION IN THE SRY GENE (Arg133Gly)
D. PLASESKA-KARANFILSKA1, P. Novevski1, K. Kuzevska2, N. Basevska3, M. Kocova4, G.D. Efremov1 1 Macedonian Academy of Sciences & Arts, RCGEB, Skopje, R. Macedonia; 2 Clinic of Gynecology and Obstetrics, Faculty of Medicine, Skopje, R. Macedonia; 3 Institute of Oncology, Faculty of Medicine, Skopje, R. Macedonia; 4 Pediatric Clinic, Faculty of Medicine, Skopje, R. Macedonia e-mail: dijana@manu.edu.mk
page: 104
PP125. FIVE NOVEL MUTATIONS IN CYSTINURIA GENES SLC3A1 AND SLC7A9
K. POPOVSKA-JANKOVIC1, V. Tasic2, R. Bogdanovic3, P. Miljkovic4, E. Baskin5, G. D. Efremov1, D. Plaseska-Karanfilska1 1 Macedonian Academy of Science and Arts, Research Center for Genetic Engineering and Biotechnology Skopje, Republic of Macedonia; 2 Pediatric Clinic, Faculty of Medicine, Skopje, Republic of Macedonia; 3 Institute for Mother and Child, Belgrade, Serbia; 4 Pediatric Clinic, Nis, Serbia; 5 Baskent University, Faculty of Medicine, Ankara, Turkey e-mail: katerina_popovska@yahoo.com
page: 104
PP118. THE IMPACT OF INHERITED THROMBOPHILIA ON THE DEVELOPMENT OF SOME PREGNANCY COMPLICATIONS
ALEXEY SAVOV 1, R. Koleva 2, V. Dimitrova 2, D. Nikolova 2, T. Chernev 2 and I. Kremensky 1 1. National Genetics Laboratory, Laboratory of Molecular Pathology, Medical University Sofia 2. University Hospital of Obstetrics, Medical University Sofia e-mail: asavov@medfac.acad.bg
page: 101
PP83. MOLECULAR BIOLOGY ANALYSES ON MUSCULAR DYSTROPHIES
CRISTINA BORDEA (Matanie), Gisela Gaina, Aura Mihalcea, Marieta Costache, Elena Ionica University of Bucharest, Molecular Biology Centre, Romania e-mail: cribo_ro@yahoo.com, elena.i@unibuc.ro
page: 84
PP69. A CASE OF KINDLER SYNDROME WITH PRIMARY INFERTILITY
BURAK DURMAZ1, Ozgur Cogulu1, Tugrul Dereli2, Cihangir Ozkinay3, Ferda Ozkinay1 1. Department of Pediatrics, Subdivision of Genetics and Teratology, Ege University, Faculty of Medicine, Izmir, Turkey 2. Department of Dermatology, Ege University, Faculty of Medicine, Izmir, Turkey 3. Department of Medical Genetics, Ege University, Faculty of Medicine, Izmir, Turkey e-mail: burakdurmaz@hotmail.com
page: 78
PP70. PFEIFFER SYNDROM: SPECIFICITY OF CLINICAL FEATURES – POSSIBILITY OF PRENATAL DIAGNOSIS
S.GRKOVIC University Children’s Hospital of Belgrade, Serbia e-mail: udkbg@rcub.bg.ac.yu
page: 79
PP71. BECKWITH-WIEDEMANN SYNDROME PRESENTING WITH PRIMARY AMENORRHEA
Kivanc Cefle1, Sukru Ozturk1, GÜLÇİN TUTKAN1, Erkut Atar2, Sukru Palanduz1 1. Istanbul University, Istanbul Medical Faculty, Dept. of Internal Medicine, Division of Medical Genetics 2. Istanbul University, Istanbul Medical Faculty, Dept. Of Gynecology and Obstetrics e-mail: sozturk@istanbul.edu.tr
page: 79
PP72. A NONMOSAIC TRISOMY 18 CASE WITH LONG TERM SURVIVE
CINAR A1, Kuskucu M2, Yilmaz S1, Deviren A1, Yüksel A1, Hacıhanefioğlu S1 1. Istanbul University Cerrahpasa School of Medicine Department of Medical Biology 2. Istanbul University Cerrahpasa School of Medicine Department of Microbiology and Clinical Microbiology, Genomed LTD e-mail: draysegul_cinar@yahoo.co.uk
page: 80
PP73. STICKLER SYNDROME: FIRST CASE FROM TÜRKIYE
DAVUT PEHLIVAN1, Sukru Ozturk2, Kivanc Cefle2, Nilgun Duman3, Sukru Palanduz2 1. Istanbul University Istanbul Medical Faculty, Department of Medical Genetics 2. Istanbul University Istanbul Medical Faculty, Department of Internal Medicine Division of Medical Genetics 3: Institute of Health Science, Department of Genetics e-mail: davutpehlivan@yahoo.com
page: 80
PP74. HYPERDONTIA: ISOLATED OR ASSOCIATED WITH GENETIC SYNDROMES
EMILIA SEVERIN, Crenguta Albu, Dinu Florin Albu "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania e-mail: severin@cis.ro
page: 80
PP75. DETECTION OF MICRODELETIONS IN PATIENTS AFFECTED WITH CONGENITAL HEART ABNORMALITIES
VAZHAROVA R1., I. Dimova1, B. Zaharieva1, R. Tincheva2, G. Hristov3, D. Toncheva1 1. Department of Medical Genetics, Medical University Sofia, Bulgaria 2. Department of Clinical Genetics, University Hospital of Pediatrics, Sofia, Bulgaria 3. Department of Pediatric Cardiology, National Hospital of Cardiology, Sofia, Bulgaria e-mail: dragatoncheva@yahoo.com
page: 81
PP76. DOWN SYNDROME - THE INCIDENCE AND RISKS
ZISOVSKA ELIZABETA, Lazovska Bratica Obstetric and Gynecology Clinic, Faculty of Medicine, Skopje, Republic of Macedonia e-mail: zisovska@yahoo.com
page: 81
PP77. DYSMORPHIA - THE MAIN SUSPICION FOR CHROMOSOMAL ABNORMALITY
ZISOVSKA ELIZABETA, Lazovska Bratica Obstetric and Gynecology Clinic, Faculty of Medicine, Skopje, Republic of Macedonia email: zisovska@yahoo.com
page: 81
PP78. THE IMPORTANCE OF FLUORESCENT IN SITU HUBRIDIZATION (FISH) IN DETECTING MICRODELETION SYNDROMES

page: 82
PP79. REPORT FROM MACEDONIA ON NEW ENTITY-DENT 2 DISEASE
TASIC V Department of Pediatric Nephrology, University Children's Hospital, Skopje, Macedonia e-mail: vtasic@freemail.com.mk
page: 82
PP80. RENAL STATUS IN CHILDREN WITH VACTERL ASSOCIATION
TASIC V, Jancevska A, Sofijanova A, Trajkovski Z, Misevska L, Ristoska Bojkovska N, Gucev Z University Children's Hospital, Department of Radiology, Department of Pediatric Surgery e-mail: vtasic@freemail.com.mk
page: 83
PP90. THE ASSOCIATION BETWEEN UNCOUPLING PROTEIN 2 (UCP2) GENE EXON 8 DELETION
EBRU ETEM1, Said Berilgen2, Caner Demir2, Halit Elyas1,Bulent Mungen2. Firat University Faculty of Medicine, Medical Biology and Genetics 2, Department of Neurology 1, Elazig , Turkey. e-mail: ebruetem@gmail.com
page: 88
PP82. TWO SIBLINGS WITH MULTIPLE EXOSTOSES
Ayse Cefle1, Kivanc Cefle2, DAVUT PEHLIVAN3 1Kocaeli University Medical Faculty, Department of Internal Medicine, Division of Rheumatology, Kocaeli, Turkey 2Istanbul University, Istanbul Medical Faculty, Department of Internal Medicine, Division of Medical Genetics, Istanbul, Turkey 3Istanbul University, Istanbul Medical Faculty, Department of Medical Genetics, Istanbul, Turkey
page: 84
PP96. ASSOCIATION STUDY OF X CHROMOSOME LOCATED GENES OF SEROTONERGIC SYSTEM WITH SUICIDAL BEHAVIOR
D. GAYSINA, A. Zainullina, E. Khusnutdinova Institute of Biochemistry and Genetics, Ufa, Russian Federation e-mail: dgaisina@mail.ru
page: 90
PP84. MLPA ANALYSIS FOR DELETIONS/DUPLICATIONS DETECTION IN BULGARIAN DMD/BMD PATIENTS
ALBENA TODOROVA 1, N. Bogdanova 2, I. Kremensky 1, J. Horst 2 and B. Dworniczak 2 1. National Genetics Laboratory, Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynecology, Sofia Medical University, Sofia, Bulgaria 2. Institute of Human Genetics, University of Muenster, Muenster, Germany e-mail: todorova@medfac.acad.bg
page: 85
PP85. DELETIONS AND DUPLICATIONS IN THE DYSTROPHIN GENE: RETROSPECTIVE MLPA ANALYSES SHOW COMPLEX REARRANGEMENTS AND PREVIOUSLY UNDETECTED DELETIONS
T. LALIC1, R.H.A.M. Vossen2, J. Coffa3, J.P. Schouten3, M.Guc-Scekic1, D.Radivojevic1, M.Djurisic1, M.H.Breuning2, S.J.White2, J.T. den Dunnen2 1 Mother and Child Health Institute, Belgrade, Serbia and Montenegro, 2Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands, 3MRC-Holland, Amsterdam, The Netherlands. e-mail: lalic@beotel.yu
page: 85
PP86. LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A (LGMD2A, CALPAINOPATHY) IN BULGARIA
GEORGIEVA Bilyana1,2, Todorova Albena2, Todorov Tihomir2, Tournev Ivailo3, Kremensky Ivo2, Mitev Vanyo1. 1. Department of Chemistry and Biochemistry, Medical Faculty, Sofia Medical University; 2. Laboratory of Molecular Pathology, Hospital of Obstetrics and Gynecology, Sofia Medical University; 3. Department of Neurology, Alexandrovska Hospital, Sofia Medical University. e-mail: gueorguievab@yahoo.com
page: 86
PP87. DUPLICATION FREQUENCY ANALYSIS OF PMP22 GENE IN HEREDITARY MOTOR AND SENSORY NEUROPATHY PATIENTS FROM BASHKORTOSTAN
E. LATYPOVA1, N. Krupina2, R. Magzhanov2, E. Khusnutdinova1, I Khidiyatova1 1 Department of Genomics, Institute of Biochemistry and Genetics, RAS, Ufa, Russia; 2 Bashkir State Medical University e-mail: elvira_latypova@mail.ru
page: 86
PP135. DELINEATION OF THE NOVEL RESPONSE REGION THAT MEDIATES A STIMULATORY EFFECT OF RETINOIC ACID ON SOX3 GENE EXPRESSION
T. SAVIĆ; G. Nikčević, M. Stevanović Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia e-mail: tijanasavic@sezampro.yu
page: 108
PP89. THE MOLECULAR ANALYSIS OF MUTATIONS IN SMN, NAIP AND TGFB GENES IN ROMANIAN SMA PATIENTS
P APOSTOL1, D Cimponeriu1, N Butoianu2, M Stavarachi1, M Toma1, Sanda Magureanu2, Lucian Gavrila1 1. Institute of Genetics, University of Bucharest, Romania 2. Departament of Pediatrics Neurology I, "Alexandru Obregia" Hospital, Bucharest, Romania e-mail: apostol_pompilia@yahoo.com
page: 87
PP126. COMPOUND HETEROZYGOSITY FOR NOVEL AND KNOWN MUTATIONS IN SLC26A4 CAUSE LARGE VESTIBULAR AQUEDUCT
UZUMCU A.1, Uyguner O.1, Ulubil-Emiroglu M.2, Hafiz G.2, Baserer N.2, Eris H.1, Basaran S.1, Wollnik B.3,4 1. Department of Medical Genetics; 2. Burcin-Engin Inan Diagnosis and Training Center for Hearing Impaired Children, Department of Ear-Nose-Throat, Istanbul Medical Faculty, Istanbul University, TURKEY; 3. Institute of Human Genetics; 4. Center for Molecular Medicine (CMMC), University of Cologne, GERMANY e-mail: a.uzumcu@gmail.com
page: 105
PP91. ANALYSIS OF PREMUTATIONS IN THE FMR1 GENE IN PARKINSON'S DISEASE
D. ISLAMGULOV, A. Karunas, E. Khusnutdinova Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences e-mail: islamgulov@gmail.com
page: 88
PP92. APOLIPOPROTEIN E AND ALZHEIMER DISEASE IN BULGARIAN PATIENTS
I. YORDANOVA1,2, S. Mehrbian3, J. Genova 4, M. Raycheva3, I. Kremensky1,2, L. Traykov3, A. Jordanova 1,2 1. National Genetics Laboratory, Laboratory of Molecular Pathology; 2. Molecular Medicine Center; 3. Department of Neurology; 4. Department of Chemistry and Biochemistry, Medical University - Sofia, Bulgaria e-mail: igli4eto@yahoo.com
page: 88
PP93. NO ASSOCIATION BETWEEN CATALASE GENE POLYMORPHISM, −262C→T, AND BIPOLAR MOOD DISORDER
Enver D. Yilmaz1, Erhan Kurt1, SULEYMAN OKTAR2, Ibrahim Tekedereli3, Gulhazar Gumus1, Vedat Bilgic1, N. A. Gazi Alatas1, Huseyin Yuce3 1. Bakirkoy Mental Health Training and Research Hospital, Istanbul, Turkey 2. Department of and Pharmacology, College of Medicine, Firat University, Elazig,Turkey 3. Department of Medical Biology and Genetics, College of Medicine, Firat University, Elazig,Turkey e-mail: suleymanoktar@yahoo.com
page: 89
PP94. THE SEROTONIN TRANSPORTER GENE: ANALYSIS OF HAPLOTYPES IN SUBSTANCE ABUSE
G. FASKHUTDINOVA, E. Juriev, D. Gaysina, A. Zainullina, E. Khusnutdinova Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa, Russian Federation e-mail: faskhutdinova83@mail.ru
page: 89
PP95. HAPLOTYPE ANALYSIS OF THE SEROTONIN TRANSPORTER GENE WITH MAJOR DEPRESSIVE DISORDER IN BASHKORTOSTAN
T. NOSKOVA, D. Gaysina, A. Zainullina, E. Khusnutdinova Department of Human Genomics, Institute of Biochemistry and Genetics, Ufa Scientific Center of Russian Academy of Sciences, Ufa, Russia e-mail: tatiana248@inbox.ru
page: 89
PP81. RENAL DYSPLASIA IN BARDET-BIEDL SYNDROME
ZEYNEL S, Gucev Z, Laban Guceva N, Jancevska A, Korneti P, Ristoska Bojkovska N, Tasic V Medical School, University St.Cyrilus and Methodius Skopje, Department of Biochemistry; Clinic for Children's Disease and Department of Endocrinology, Clinical Center, Skopje, Macedonia e-mail: sead_mmsa@yahoo.com
page: 83
PP171. DIAGNOSIS OF INHERITED METABOLIC DISEASES IN BULGARIA
IVANOVA M., Sinigerska I. and Kremensky I. National Genetic Laboratory, Laboratory Of Molecular Pathology, Medical University - Sofia, Bulgaria e-mail: ivanovam@yahoo.com
page: 124
PP133. MAPPING OF THE POSITIVE CONTROL ELEMENTS WITHIN HUMAN SOX14 PROMOTER
J. DJUROVIC, I. Petrovic, M. Seovic, M. Stevanovic Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro e-mail: jdjurov@eunet.yu
page: 107
PP158. PHENOTYPIC EXPRESSION OF APO(a) IN MACEDONIAN CHILDREN
TOSHESKA-TRAJKOVSKA K, Labudovic D, Alabakovska S, Todorova B Department of medical and experimental biochemistry, Medical faculty, Skopje, R. Macedonia e-mail: tosheskatrajkovska@yahoo.com
page: 119
PP159. FETAL SEX DETERMINATION USING REAL-TIME PCR ANALYSIS OF MATERNAL PLASMA
DAVALIEVA K, Efremov GD and Plasevska-Karanfilska D Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences & Arts, Skopje, Republic of Macedonia e-mail: katarina@manu.edu.mk
page: 119
PP160. RAPID PRENATAL DIAGNOSIS OF MOST COMMON NUMERIC CHROMOSOMAL ABNORMALITIES ON UNCULTURED AMNIOTIC FLUID USING FLUORESCENT in situ HYBRIDIZATION (FISH)
M. BOCIĆ1, D. Drakulić1, M. Seović1, Z. Sretenović2, M. Stevanović1 1. Institute of Molecular Genetics and Genetic Engineering – Belgrade, Serbia and Montenegro; 2. Obstetrics and gynaecological ordination ״Sretenović״, - Belgrade, Serbia and Montenegro e-mail: hmgbox@eunet.yu
page: 120
PP161. PRENATAL KARYOTYPES OF FETUSES CONCEIVED BY ASSISTED REPRODUCTIVE TREATMENT
A.-M. STEFANOVSKA, A. Anevska, M. Popovic, M. Ivanovski, S. Adamoska-Klisaroska, M. Vasilevska, S. Lazarevski Special hospital for obstetrics and gynecology - “Mala Bogorodica-Sistina”, Skopje, Republic of Macedonia e-mail: kliment@mt.net.mk
page: 120
PP162. QF-PCR ANALYSIS AND INDICATIONS FOR INVASIVE PRENATAL PROCEDURES
RADOSTINA RAYNOVA, Ivo Kremensky, Silvia Andonova National Genetics Laboratory, Laboratory of Molecular Pathology, Medical University - Sofia, Bulgaria e-mail: sandonova@netscape.net
page: 120
PP163. GENETIC COUNSELING AND PRENATAL DIAGNOSIS IN MACEDONIAN DMD/BMD FAMILIES
S. A. KOCHEVA 1,2, D. Plaseska-Karanfilska1, S. Vlaski-Jekic3, M. Kuturec2, G.D.Efremov1 1. Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts; 2. University Children's Hospital, Medical faculty, Skopje, Republic of Macedonia; 3. Department of Neurology, Medical faculty, Skopje, Republic of Macedonia e-mail: skocheva@fastmail.fm
page: 121
PP164. COMPLETE TRISOMY 15 IN FETAL TISSUE
DERYA DEVECI, Huseyin Yuce Firat University, Firat Medical Center, Department of Medical Biology and Genetic, 23119, Elazig, Turkey e-mail: ebruetem@gmail.com
page: 121
PP165. PRENATAL DIAGNOSIS OF HOMOZYGOSITY FOR PERICENTRIC INVERSIONS OF CHROMOSOME 9 WITH ONE CASE
DERYA DEVECI, Huseyin Yuce, Ebru Etem Firat University, Firat Medical Center, Department of Medical Biology and Genetic, 23119, Elazig, Turkey e-mail: ebruetem@gmail.com
page: 121
PP166. CASE REPORT: ENLARGED ACROCENTRIC P-ARM OF CHROMOSOME 22: CRYPTIC TRANSLOCATION OR NORMAL POLYMORPHISM IN FETAL KARYOTYPE?
M. MISKOVIC, S. Cirkovic, A. Krstic, M. Guc-Scekic Laboratory for Medical Genetics, Mother and Child Health Care Institute "Dr Vukan Cupic", Belgrade, Serbia and Montenegro e-mail: masa1010yu@yahoo.com
page: 122
PP167. PRENATAL DIAGNOSIS OF A FETUS WITH LIP-JAW-PALATAL CLEFT CRENGUTA ALBU, D.F.Albu, E.Severin
Human Genetics Department, "Carol Davila" University of Medicine and Pharmacy, Bucharest - ROMANIA e-mail: stevealbu@yahoo.com
page: 122
PP168. SCREENING FOR CHROMOSOMAL DEFECTS WITH ULTRASOUND MARKERS
P. DIMCEV, Z. Petanovski, J. Stojkovski, J. Efremovski “REMEDIKA” - Private General Hospital, Skopje, Republic of Macedonia e-mail: pdimcev@unet.com.mk
page: 122
PP156. HETEROGENEOUS STRUCTURE OF BULGARIAN POPULATION REVEALED BY DNA ANALYSIS OF 17 HIGHLY POLYMORPHIC LOCI
Boriana ZAHAROVA, Ivo Kremensky National Genetics Laboratory, Laboratory of Molecular Pathology, Medical University, 2 Zdrave St, 1431 Sofia, Bulgaria e-mail: zaharova@medfac.acad.bg
page: 118
PP170. ENZYMATIC DIAGNOSIS OF LYSOSMAL STORAGE DISEASES IN BULGARIA
SINIGERSKA I., Hassanova I., Vladimirova K., Kremensky I. National Genetic Laboratory .Laboratory of Molecular Patghology. University Hospital of Obstetrics and Gynecology Maichin domSofia, Bulgaria e-mail: sinigerska@mail.bg
page: 123
PP155. KILLER IG-LIKE RECEPTOR (KIR) GENE POLYMORPHISM IN THE MACEDONIAN POPULATION
ELI SPIROSKA, Slavica Hristomanova, Dejan Trajkov, Todor Arsov, Aleksandar Petlichkovski, Ana Strezova, Olivija Efinska-Mladenovska, Mirko Spiroski Institute of Immunobiology and Human Genetics, Faculty of Medicine, University St. Kiril and Metodij, Skopje, Republic of Macedonia e-mail: elispiroska@yahoo.com
page: 117
PP172. NEONATAL THYROID SCREENING IN THE REPUBLIC OF MACEDONIA
M. KOCOVA, V. Anastasovska, E. Sukarova-Angelovska, B. Gjurkova Department for Endocrinology and genetics, Pediatric Clinic, Medical Faculty, Skopje, Republic of Macedonia e-mail: ozonunit@unet.com.mk
page: 124
PP173. ETHICAL ISSUESS OF INTERPRETATION A FINAL REPORT IN DNA IDENTIFICATION - CASE STUDY
KOVACEVIC LEJLA Bakal Narcisa Marjanovic Damir Laboratory for forensic genetic, Institute for Genatic Engineering and Biotechnology, University of Sarajevo, Bosnia and Herzegovina e-mail: lejla.kovacevic@ingeb.ba; narcisa.bakal@ingeb.ba; damir.marjanovic@ingeb.ba
page: 173
PP174. THE EFFICIENCY OF SUBSTITUTIVE HORMONAL THERAPY OF FEMOSTON BY DYSGENESIS OF GONADS
MALIKOVA RANO MUMINOVNA Samarkand State Med. Inst., the Department of obstetrics and gynecology of the pediatric faculty, Uzbekistan e-mail: niholm@rambler.ru
page: 125
PP175. CYP2C9 AND CYP2C19 POLYMORPHISMS IN PATIENTS UNDER PHENYTOINTHERAPY
A.E. ÖZKAYNAKÇI1, D. Sevinç2 ,Ç. Özkara3, M. Uzan4, A. Koçer5, R. Aker1, K. Ulucan6, M.Z. Gören1, E. Küçükibrahimoğlu1, R. Bircan7, H.B. Özyurt8, A.İ. Güney9, F. Onat1 1 Marmara University Faculty of Medicine Department of Pharmacology and Clinical Pharmacology, Istanbul, Turkey, 2 Maltepe University, Faculty of Medicine Department of Medical Biology and Genetics, Istanbul, Turkey, 3 Istanbul University , Cerrahpaşa Faculty of Medicine, Department of Neurology, Istanbul, Turkey, 4 Istanbul University, Cerrahpaşa Faculty of Medicine, Department of Neurosurgery, Istanbul, Turkey, 5 Abant Izzet Baysal University, Düzce Faculty of Medicine Department of Neurology, Düzce, Turkey, 6 Marmara University Faculty of Dentistry, Basic Sciences, Medical Biology and Genetics, İstanbul, Turkey, 7 Marmara University Faculty of Medicine Department of Medical Biology, Istanbul, Turkey, 8 Kartal State Hospital, Department of Radiation Oncology, Istanbul, Turkey, 9 Marmara University Faculty of Medicine Department of Medical Genetics, Istanbul, Turkey. e-mail: aydanozkaynakci@yahoo.com
page: 126
PP176. PHARMACOGENETICS OF ACENOCOUMAROL - CYP2C9, CYP2C19, CYP1A2, CYP3A4/5 AND MDR1 GENE POLYMORPHISMS AND DOSE REQUIREMENTS
RADOSLAVA SARAEVA 1,3, I. Paskaleva 2, C. Eap 3, V. Ganev 1 1. Departement of Chemistry and Biochemistry, Medical University of Sofia – Bulgaria 2. National Heart Hospital, Sofia – Bulgaria; 3. Unite de Biochimie et Psycho-pharmacologie Clinique, Departement Universitaire de Psychiatrie Adulte, Prilly-Lausanne - Switzerland. e-mail: r_saraeva@yahoo.com
page: 126
PP177. APOPTOTIC PATHWAYS INDUCED BY IMATINIB IN SENSITIVE AND IMATINIB-RESISTANT K562 CELLS
YUSUF BARAN1,3, Ufuk Gündüz1, Ali Uğur Ural2, Besim Öğretmen3. 1. Middle East Technical University, Department of Biology, TURKEY. 2. Gülhane Military Medical Academy, Department of Hematology, TURKEY. 3. Medical University of South Carolina, Department of Biochemistry and Molecular Biology, USA. e-mail: ybaran@metu.edu.tr
page: 127
PP178. CIRCUMVENTING MULTI-DRUG RESISTANCE BY A COMBINATION THERAPY OF IMATINIB AND GCS INHIBITOR IN IMATINIB-RESISTANT HUMAN CHRONIC MYELOID LEUKEMIA CELLS
YUSUF BARAN1,2, Ufuk Gündüz1, Jacek Bielawski2, Besim Öğretmen2. 1. Middle East Technical University, Department of Biology, TURKEY. 2. Medical University of South Carolina, Department of Biochemistry and Molecular Biology, USA. e-mail: ybaran@metu.edu.tr
page: 127
PP179. THE SEQUENCE ANALYSES OF IMATINIB MESYLATE BINDING SITE OF ABL KINASE DOMAIN IN SENSITIVE AND IMATINIB-RESISTANT HUMAN CML CELLS
YUSUF BARAN1,2, Ufuk Gündüz1, Besim Öğretmen2. 1. Middle East Technical University, Department of Biology, TURKEY; 2. Medical University of South Carolina, Department of Biochemistry and Molecular Biology, USA. e-mail: ybaran@metu.edu.tr
page: 128
PP180. A MICROVARIANT ALLELE FGA*22.2 IN ONE CASE IN REPUBLIC OF MACEDONIA
1RENATA JANKOVA-AJANOVSKA, 1Zlatko Jakovski 1 Biljana Janeska, 1Aleksej Duma 1Institute of Forensic Medicine and Criminology, Medical Faculty, Skopje, Republic of Macedonia
page: 128
PP181. ALLELE FREQUENCIES FOR THE AmpFlSTR Identifiler IN AN ALBANIAN POPULATION SAMPLE
GRIGOR ZORAQI1, Ela Hysa1, Daniele Podini2 1. Center of Mol. Diagn. and Gen. Research, University Hospital of Obstetrics and Gynecology of Tirana, Albania; 2. Genoma Lab, Via Po 102, 00198 Roma, Italy Email: gzoraqi@hotmail.com.
page: 128
PP182. DETERMINATION OF BETA-GLOBIN ALLELES IN ALBANIAN THALASSEMIC PATIENTS OF THE PEDIATRIC HOSPITAL OF TIRANA
GRIGOR ZORAQI1*, Lila Shundi2, Eleni Anastasi3, Etleva Refatllari4 and Halim Kosova1. 1. Center of Mol. Diagn. and Gen. Research, University Hospital of Obstetrics and Gynecology of Tirana, Albania; 2. Institute of Public Health, Tirana, Albania; 3. Center of Thalassemia, Pediatric Hospital of Tirana, Albania; 4. Laboratory of Biochemistry, Pediatric Hospital of Tirana, Albania E-mail: gzoraqi@hotmail.com.
page: 129
PP183. CISTIC FIBROSIS MUTATION TESTING IN ALBANIA
GRIGOR ZORAQI1 , Lila Shundi2, Evda Vevecka3, Halim Kosova1 1. Center of Mol. Diagn. and Gen. Research, University Hospital of Obstetrics and Gynecology of Tirana, Albania; 2. Institute of Public Health, Tirana, Albania; 3. Center of Cystic E-mail: gzoraqi@hotmail.com.
page: 130
PP169. FETAL THANATOPHORIC DYSPLASIA - SECOND TRIMESTER ULTRASOUND EXAMINATION
DINU FLORIN ALBU, E. Severin, C. Albu, A. Toma Carol Davila University of Medicine and Pharmacy, Bucharest, Romania e-mail: emilia@cis.ro
page: 123
PP142. ARE ANGIOTENSIN-CONVERTING ENZYME GENE VARIATIONS RISK FACTOR FOR DEVELOPMENT OF SCHIZOPHRENIA?
N. ORHAN, C. I. Kucukali, A. Zengin, M. Aydin, E. Ozkok, I. Kara Department of Neuroscience, Istanbul University Institute for Experimental Medicine, Istanbul, Turkey. Erenkoy Psychiatric and Neurological Disorders Hospital, Istanbul, Turkey. e-mail: norhan@istanbul.edu.tr
page: 111
PP128. THE INVESTIGATION OF TLR2 GENE POLYMOPHISM IN ACNE PATIENTS
EBRU ETEM1, Ibrahim Kökcam2, Sevinay Oguz2, Halit Elyas1, Arzu Etem3. 1Firat University, Medical Faculty, Department of Medical Biology and Genetic, Elazıg, TURKEY; 2Firat University, Medical Faculty, Department of Dermatology, Elazıg, TURKEY;3 Okmeydani Training Hospital, Department of Biochemistry, Istanbul, TURKEY.
page: 105
PP129. HYPER-IgD SYNDROME
S. Peova, K. STAVRIC, L. Kareva, K. Mironska University Children’s hospital, Department of immunology, Clinical Centre Skopje, Macedonia; e-mail: kstavric@hotmail.com
page: 106
PP130. MUTATION ANALYSIS OF THE BTK GENE IN PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA IN MACEDONIA
S. PEOVA, K. Mironska, L. Kareva, K. Stavric University Children’s hospital, Department of immunology, Clinical Centre Skopje, Macedonia; e-mail: peova2002@yahoo.com
page: 106
PP131. INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN-3, IT'S PROTEOLYTIC FRAGMENTS AND THEIR SIGNIFICANCE
Z. GUCEV¹, Yves Le Bouc², Francois Godeau², G. Jovanov³, A. Jancevska¹ ¹ Pediatric Clinic, Medical faculty Skopje ² Inserm U-142, Paris, France ³ Health Center Skopje e-mail: gucevz@gmail.com
page: 107
PP132. MINING GENE EXPRESSION DATA FROM MULTIPLE MICROARRAY STUDIES USING GENE ONTOLOGY ANNOTATION: APPLICATION TO NEURODEGENERATIVE DISORDERS
ANDREJ KASTRIN, Borut Peterlin Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre, SI-1000 Ljubljana, Slovenia e-mail: andrej.kastrin@guest.arnes.si
page: 107
PP68. MOEBIUS SYNDROME WITH UNILATERAL CEREBELLAR HYPOPLASIA
CANDAN ޹, Tatlı B², Kara B², Kayserili H¹ ¹ Department of Medical Genetics; ² Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, TURKEY e-mail: sukrucandan34@mynet.com.tr
page: 78
PP134. THE ZINC FINGER TRANSCRIPTION FACTOR ZBP-89 IS A REPRESSOR OF THE HUMAN SOX3 GENE
N. KOVAČEVIĆ GRUJIČIĆ, M. Mojsin, M. Stevanović Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444a, PO BOX 23, 11010 Belgarde, Serbia and Montenegro e-mail: grooy@eunet.yu
page: 108
PP112. GENE POLYMORPHISMS IN THE INTERLEYKIN-1 LOCUS AND THE RISK OF MYOCARDIAL INFARCTION
G. TULYAKOVA ¹, T. Nasibullin ¹, A. Zakirova ², E. Khusnutdinova ¹, O. Mustafina ¹, A. Salmanov ³ ¹Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, Russia ²Cardiology Department, Bashkir State Medical University, Ufa, Russia ³ Bureau of Judicial Medical Examination of Bashkortostan, Ufa, Russia e-mail: gulnarat@mail.ru
page: 98
PP136. INVOLVEMENT OF NF-Y IN TRANSCRIPTIONAL REGULATION OF THE HUMAN SOX3 GENE
ALEKSANDAR KRSTIC, Milena Stevanovic Laboratory for human molecular genetics, Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444a, 11010 Belgrade, Serbia e-mail: smallcross@eunet.yu
page: 109
PP137. HUMAN SOX3 GENE: MAPPING OF THE ELEMENTS INVOLVED IN RETINOIC ACID INDUCED TRANSCRIPTIONAL ACTIVATION
G. NIKČEVIĆ; M. Mojsin; N. Kovačević Grujičić; A. Krstić; T. Savić, M. Stevanović Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia e-mail: gordnik@eunet.yu
page: 109
PP138. LACK OF ASSOCIACIATION BETWEEN FACTOR V LEIDEN MUTATION AND 20210 G/A MUTATION OF THE PROTHROMBIN GENE AND MYOCARDIAL INFARCTION IN BULGARIAN POPULATION
NOSSIKOFF A., Vikentieva E., Savov A., Dimitrov S., Kremensky I., Baleva M., Denchev S. Department of Cardiology, University Hospital Alexandrovska Laboratory of Clinical Immunology, University Hospital Alexandrovska Laboratory of Molecular Pathology, Medical University – Sofia e-mail: alexanderbul@yahoo.com
page: 109
PP139. eNOS AND MMP-9 GENE POLYMORPHISMS ASSOCIATION WITH CORONARY ARTERY DISEASE IN TURKISH POPULATION
E. SEVDA MENEVSE 1, Ebru Alp1, Murat Tulmac2, Derya Kan3, Atiye Cengel2, Rıdvan Yalcın2 1. Gazi University, Faculty of Medicine, Department of Medical Biology and Genetics, 06510, Besevler, Ankara; 2. Gazi University, Faculty of Medicine, Department of Cardiology, 06510, Besevler, Ankara; 3. Gazi University, Faculty of Medicine, Department of Medical Genetics, 06510, Besevler, Ankara e-mail: ebrualmaz@gazi.edu.tr
page: 110
PP157. THE PARENTAL AND MEIOTIC ORIGIN OF EXTRA CHROMOSOME 21 IN DOWN SYNDROME PATIENTS
S. TALAGANOVA1, S. Trivodalieva1, S. Arsovska1, M. Kaeva2, G.D. Efremov1, D. Plaseska-Karanfilska1 1 Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology; 2 National Institute of Mental Health, 1000 Skopje; Republic of Macedonia e-mail: dijana@manu.edu.mk
page: 118
PP141. THE ANGİOTENSIN CONVERTING ENZYME I/D GENE POLYMORPHISM IN ELITE TURKISH ATHLETES
Mehmet Gunay1, MELAHAT KURTULUS ULKUER2, Uner Ulkuer3, Kadir Gokdemir1, Meral Yirmibeş Karaoguz4, Ebru Çetin1, Ebru Alp5, Tahsin Kesici6 1. School of Physical Education and Sports, Gazi University Ankara, Turkey; 2. Department of Pharmaceutical Microbiology, Faculty of Pharmacy, Gazi University, Ankara, Turkey; 3. Criminal Police Laboratory, General Directory of Security, Ankara, Turkey; 4. Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey; 5. Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey; 6. TOBB Economics and Technology University, Ankara, Turkey e-mail: mulkuer@gazi.edu.tr
page: 111
PP127. LACK OF ASSOCIATION BETWEEN PSEUDOEXFOLIATION SYNDROME AND MANGANESE SUPEROXIDE DISMUTASE POLYMORPHISM
HUSEYIN YUCE1, I. Fevzi Hepsen2, Ibrahim Tekedereli1, Ugur Can Keskin2, Halit Elyas1, Omer Akyol3 1. Firat University Medical Faculty, Department of Medical Biology and Genetics, Elazig, Turkey 2. Fatih University Medical Faculty, Department of Ophthalmology, Ankara, Turkey 3. Hacettepe University Medical Faculty, Department of Biochemistry, Ankara, Turkey email: hyuce@firat.edu.tr
page: 105
PP143. INSERTION/DELETION POLYMORPHISM OF THE ANGIOTENSIN CONVERTING ENZYME GENE IN PATIENTS OF MIGRAINE WITH AURA AND MIGRAINE WITHOUT AURA
ULKU OZBEY, Ebru Etem, Huseyin Yuce Firat University, Firat Medical Center, Medical Biology and Genetic Department,23119,Elazig, TURKEY e-mail: uozbey76@hotmail.com
page: 111
PP144. POLYMORPHISM OF ERYTHROCYTE GLYOXALASE (GLO-I E.C.4.4.1.5) IN THE BULGARIAN POPULATION FROM SOUTH-CENTRAL AND SOUTH-EASTERN REGION IN BULGARIA
S. BALTOVA & I. Popova Dept. of Anatomy and Physiology, Biological Faculty, University of Plovdiv, Bulgaria e-mail: bsofi@abv.bg
page: 112
PP145. HYPOLACTASIA-ASSOCIATED POLYMORPHISM IN LACTASE GENE LCT C/T-13910 IN POPULATIONS OF RUSSIA AND NEIGHBORING COUNTRIES
SOKOLOVA M.V. 1,2, Rebrikov D.V. 3, Borodina T.A.4, Kozlov A.I.1, Borinskaya S.A.1, Yankovsky N.K1 1. Institute of General Genetics RAS, Gubkin str. 3, 119991 Moscow, Russia. 2. Moscow State University, Biological faculty, Dept. of Genetics, 119992 Moscow, Russia 3. "DNA-Technology" research-and production corporation Moscow, Russia 4. Max Planck Institut fur Molekulare Genetik, 14195 Berlin-Dahlem, Germany e-mail: sokmaria@yahoo.com
page: 112
PP146. RECURRENT MISCARRIAGES AND MATERNAL THROMBOPHILIA IN SERBIAN POPULATION
V. DJORDJEVIC1, LJ. Rakicevic1, B. Tomic1, P. Miljic2, D. Mikovic3, M. Kovac3, N. Antonijevic4, D. Radojkovic1 1. Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro 2. Institute of Hematology, University Clinical Center of Serbia, Belgrade, Serbia and Montenegro 3. Hemostasis Department and Hemophilia Center, National Blood Transfusion Institute, Belgrade, Serbia and Montenegro 4 Institute of Cardiovascular Diseases, University Clinical Center of Serbia, Belgrade, Serbia and Montenegro e-mail: qwert@eunet.yu
page: 113
PP147. GENETIC TESTING IN INFERTILE MEN IN SERBIA
M. RISTANOVIC1, A. Nikolic2, D. Radojkovic2 1. Institute of Human Genetics, Medical Faculty, University of Belgrade, Belgrade, Serbia and Montenegro 2. Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro e-mail: qwert@eunet.yu
page: 113
PP148. ASSOCIATIATION BETWEEN POLYMORPHISM OF THE MITOCHONDRIAL DNA POLYMERASE GAMMA GENE (POLG) AND MALE INFERTILITY AMONG MACEDONIAN POPULATION
P. NOVEVSKI1, T. Plaseski2, B. Kocevska2, C. Dimitrovski2, G.D. Efremov1, D. Plaseska-Karanfilska1 1 Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Republic of Macedonia; 2 Clinic of Endocrinology and Metabolic Disorders, Faculty of Medicine, Skopje, Republic of Macedonia e-mail: dijana@manu.edu.mk
page: 114
PP149. FREQUENCY OF THE 35delG AND del120E MUTATIONS IN THE GJB2 GENE IN TURKISH FAMILIES WITH NON-SYNDROMIC HEARING LOSS
ADNAN MENEVSE 1, Elif Baysal 2, Akin Yilmaz1, Yildirim A. Bayazit 2, Senay Altinyay 3, Bulent Gunduz 3, Nebil Goksu 2, Sevda Menevse 1. 1. Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey 2. Department of Otolaryngology, Faculty of Medicine, Gazi University, Ankara, Turkey 3. Department of Audiology, Faculty of Medicine, Gazi University Ankara, Turkey email: amenevse@gazi.edu.tr
page: 114
PP150. CONNEXIN 26 MUTATIONS IN NONSYNDROMIC DEAFNESS IN REPUBLIC OF MACEDONIA
MOMIROVSKA A.1,3, Sukarova Stefanovska E2., Efremov G.2 1 Adrialab, Polyclinic for Laboratory Medicine, Skopje, Republic of Macedonia; 2 Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia; 3 Association of Deaf and Hard of hearing, Skopje, Republic of Macedonia e-mail: emilija@manu.edu.mk
page: 115
PP151. POLYMORPHISMS IN SEROTONINE AND DOPAMINE RELATED GENES AND THEIR RELATIONSHIP TO PERSONALITY TRAITS IN BULGARIAN SUBJECTS
MINA IVANOVA 1, Vesselin Chorbov 1, Christian Kostov 2, Vihra Milanova 2, Ivo Kremensky 1, Radka Kaneva 1 1. National Genetics Laboratory, Laboratory of Molecular Pathology, Medical University - Sofia, Sofia, Bulgaria; 2. First Psychiatric Clinic, Department of Psychiatry, Medical University - Sofia, Sofia, Bulgaria e-mail: minangelova@gmail.com
page: 115
PP152. POPULATION-BASED ESTIMATION OF X-LINKED MENTAL RETARDATION FREQUENCY IN RUSSIA
VOINOVA-ULAS V.Y., Iourov I.Y., Novikov P.V., Vorsanova S.G. Institute of Pediatrics and Children Surgery, Roszdrav, Moscow and National Research Center of Mental Health, RAMS, Moscow, Russia e-mail: y_yurov@yahoo.com
page: 116
PP153. CYTOKINE GENE POLYMORPHISM IN MACEDONIAN PATIENTS WITH TUBERCULOSIS
TRAJKOV DEJAN1, Strezova A1, Petlichkovski A1, Arsov T1, Efinska-Mladenovska O1, Trajchevska M2, Spiroski M1 1. Institute of Immunobiology and Human Genetics, Institutes, Faculty of Medicine, Skopje, Macedonia; 2. Institute for Pulmonary Diseases and Tuberculosis, Skopje, Macedonia e-mail: dejantmk@yahoo.com
page: 116
PP154. ASSOCIATION OF CYTOKINE GENE POLYMORPHISM WITH PERIODONTITIS IN THE MACEDONIAN POPULATION
ANETA ATANASOVSKA-STOJANOVSKA1, Mirjana Popovska1, Liljana Angelovska1, Dejan Trajkov2, Todor Arsov2, Aleksandar Petlichkovski2, Ana Strezova2, Olivija Efinska-Mladenovska2, Mirko Spiroski2 1. Dental Clinical Center, Department of Oral Pathology and Periodontology, Faculty of Stomatology, University “Ss. Kiril and Metodij”, Skopje, Republic of Macedonia; 2. Institute of Immunobiology and Human Genetics, Faculty of Medicine, University “Ss. Kiril and Metodij”, Skopje, Republic of Macedonia
page: 116
PP140. 4G/5G POLYMORPHISM IN THE PROMOTER REGION OF THE PAI-1 GENE IN PATIENTS WITH MYOCARDIAL INFARCTION IN BULGARIA - A PILOT CASE-CONTROL STUDY
NOSSIKOFF A., Vikentieva E., Savov A., Dimitrov S., Bjanov K., Kremensky I., Baleva M., Denchev S. Medical University - Sofia Department of Cardiology Laboratory of Immunology, Centre of Allergy and Asthma Laboratory of Molecular Pathology e-mail: alexanderbul@yahoo.com
page: 110
OP16. CYTOGENETIC AND MOLECULAR - CYTOGENETIC STUDIES OF SPONTANEOUS ABORTIONS
VAZHAROVA R1., T. Milashich2, V. Petrova3, D. Azmanov1, A. Yosifova1, E. Becheva1, R. Kamenova1, V. Dimitrova4, Y. Hranov4, G. Koleva5, R. Velev6, V. Damjanova7, D. Toncheva1 1. Department of Medical Genetics, Medical University, Sofia, Bulgaria 2. Centre for Reproductive Health, Sofia, Bulgaria 3. Department of Medical Genetics, Tracian University, Medical Faculty, Stara Zagora, Bulgaria 4. University Hospital of Obstetrics and Gynaecology "Maichin dom", Sofia, Bulgaria 5. Hospital of Obstetrics and Gynaecology "St. Sofia", Sofia, Bulgaria 6. Hospital of Obstetrics and Gynaecology "Sheinovo", Sofia, Bulgaria 7. Department of Biology, Medical University, Sofia, Bulgaria email: dragatoncheva@yahoo.com
page: 42
PP08. FREQUENCY OF CHROMOSOMAL ABNORMALITIES AMONG FAMILIES WITH REPRODUCTIVE FAILURE
1MILASHICH T, 2R. Vazharova, 2A. Yosifova, 2V. Dimova, 3T. Chernev, 3V. Dimitrova, 3U. Hranov, 3K. Krustev, 2D. Toncheva 1. Center of Reproductive Health, 2. Department of Medical Genetics, Medical University Sofia, 3. University Hospital of Obstetrics and Gynecology e-mail: dragatoncheva@yahoo.com
page: 51
OP03. GENOMIC PROFILING OF OVARIAN CANCER FOR CHROMOSOME 17 BY ARRAY CGH ANALYSIS
DIMOVA I1, Orsetti B2, Rouge C2, Ursule L2, Lasorsa L2, Dimitrov R3, Doganov N3, Toncheva D1, Theillet Ch2 1 Department of Medical Genetics, Medical University - Sofia, Bulgaria 2 Genotype et Phenotype Tumoraux, EMI229 INSERM/Universite Montpellier I, CRLC Val D'Aurelle - Paul Lamarque, Montpellier, France 3 Clinics of Operative Gynecology, University Hospital of Obstetrics and Gynecology - Sofia, Bulgaria email: dragatoncheva@yahoo.com
page: 36
OP04. RELATIONS BETWEEN EGFR, PTEN, PDGFR-α, MGMT EXPRESSION PATTERNS AND TP53 AND P53 PATHWAY (MDM-2 AND P14ARF) GENE ABERRATİONS IN LOW GRADE GLIOMAS
EREN P.1, Bozkurt S.2, Kılıç T.3, Turan K.4, Erdağ B.5, Sav A2., Pamir M.N 3., Çırakoğlu B1. 1. Marmara University Faculty of Medicine Department of Medical Biology and Genetics 2. Marmara University Institute of Neurological Sciences Department of Pathology, 3. Marmara University Faculty of Medicine Department of Neurosurgery, 4. Marmara University Faculty of Pharmacology Department of Pharmaceutical Biotechnology, 5. Scientific and Technical Research Council of Turkey, Marmara Research Center email: pinaren@yahoo.com; pinaren@gmail.com
page: 36
OP05. P53 AND APC GENE MUTATION ANALYSES IN CASES WITH COLON CANCER
ONRAT T.S1, Ellidokuz E2, Küpelioğlu A3, Durhan E1., 1. Department of Biology , Molecular Biology, Afyon Kocatepe University Science Faculty, Afyon, Turkey. 2. Department of Internal Medicine and Gastroenterology, School of Medicine, Celal Bayar University , Manisa, Turkey. 3. Güneş Patology Laboratuary, Alsancak, İzmir, Turkey. email: tutgunonrat@yahoo.com
page: 37
OP06. MOLECULAR GENETICS OF INHERITED PERIPHERAL NEUROPATHIES IN BULGARIA
A. JORDANOVA 1,4, Ivajlo Tournev 2,4, Velina Guergueltcheva 2,4, Ivan Litvinenko 3,4, Boriana Ishpekova 2,4, Veneta Bozinova 2,4 and Ivo Kremensky 1,4 1-Laboratory of Molecular Pathology, 2-Department of Neurology, 3-Department of Pediatrics, 4-Inherited Peripheral Neuropathies Research Group, Molecular Medicine Center, Medical University-Sofia, Bulgaria email: ajordanova@excite.com
page: 37
OP07. PHENYLKETONURIA IN SERBIA AND MONTENEGRO
A. STEVANOVIC 1, M. Stojiljkovic 1, B. Petrucev 1, N. Tosic 1, T. Karan Djurasevic 1, T. Kostic 1, M. Djordjevic 2, Lj. Stojanov 2, S. Pavlovic 1 1. Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro 2. Mother and Child Healthcare Institute "Dr Vukan Cupic", Belgrade, Serbia and Montenegro email: zmzg@sezampro.yu
page: 38
OP08. FINE MAPPING ANALYSIS OF BIPOLAR AFFECTIVE DISORDER IN ROMA FAMILIES
R KANEVA1, D Angelicheva2, V Milanova3, J Hallmayer4, S Macgregor5, S Alexiev3, M Ivanova1, R Vladimirova3, V Stoyanova3, T Milenska6, I Kremensky1, A Jablensky7, L Kalaydjieva2 1. National Genetics Laboratory, Laboratory of Molecular Pathology & Molecular Medicine Center, Medical University of Sofia, 2 Zdrave St., Sofia 1431, Bulgaria 2. Western Australian Institute for Medical Research, University of Western Australia, Perth, WA 3. Department of Psychiatry, Medical University of Sofia, Sofia, Bulgaria 4. Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA, USA 5. Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia 6. Regional Mental Health Services, Kjustendil, Bulgaria 7. School of Psychiatry and Clinical Neurosciences, University of Western Australia, Perth, WA email: kaneva64@yahoo.com
page: 38
OP09. GENETIC AND PHENOTYPE ANALYSIS OF FAT AUSSIE - A MOUSE MODEL OF ALSTRÖM SYDROME
TODOR ARSOV1,2, Geoff Farrell2, Moira O'Bryan3, Amanda Sainsbury-Salis4, Chris Goodnow1 1. Division of Immunology and Genetics, The John Curtin School of Medical Research, Australian National University, 2. The Canberra Hospital and ANU Medical School, Canberra, 3. ARC Centre of Reproduction and Development, Monash University, Melbourne, 4. Garvan Institute of Medical Research, Sydney, AUSTRALIA email: todor.arsov@anu.edu.au
page: 39
OP10. ASSOCIATION BETWEEN UTERINE LEIOMYOMA AND ESTROGEN METABOLISM AND ESTROGEN RECEPTOR GENES POLYMORPHISMS IN RUSSIAN POPULATION (BASHKORTOSTAN)
EGOROVA O.V.1, Bermisheva M.A.1, Khusnutdinova E.K.1, Glebova N.N.2, Dodonov A.N.2 1 Institute of Biochemistry and Genetics, Ufa Scientific Center of Russian Academy of Sciences, Ufa, Russia; 2 Bashkortostan State Medical University, Ufa, Russia email: olga_423@web.de
page: 39
OP11. MUTATION ANALYSIS OF RHO GENE AND NOVEL MUTATION ARG252PRO (755G→C) IN PATIENTS WITH NONSYNDROMIC RETINITIS PIGMENTOSA FROM BASHKORTOSTAN
E. R. GRINBERG , L. U. Dzhemileva, E. K. Khusnutdinova Institute of biochemistry and genetics, Ufa, Russian Federation. email: grinberg_ela@mail.ru
page: 40
OP12. PARTIAL AZFc DELETIONS IN MACEDONIAN INFERTILE MEN
DIJANA PLASESKA-KARANFILSKA1, T. Plaseski2, P. Noveski1, C. Dimitrovski2, B. Kocevska2,G.D. Efremov1 1. Macedonian Academy of Sceinces and Arts, Research Cener for Genetic Engineering and Biotechnology, Skopje, R. Macedonia 2.Clinic of Endocrinology and Metabolic Disorders, Faculty of Medicine, Skopje, R. Macedonia e-mail: dijana@manu.edu.mk
page: 40
OP13. MOLECULAR SCREENING OF DEAFNESS IN POPULATIONS AND PATIENTS WITH NONSYNDROMIC CONGENITAL DEAFNESS IN VOLGA-URAL REGION
DZHEMILEVA LILYA USEINOVNA, Tazetdinov Andrew Mauletzyanovich, Baimiev Andrew Hanifovich, Khabibulin Ramil Midhatovich, Khusnutdinova Elza Kamilevna Institute of Biochemistry and Genetics; Ufa Scientific Center Russian Academy of Science, Bashkortostan Children's Hospital email: Dzhemilev@anrb.ru
page: 41
OP01. MOLECULAR GENETIC SCREENING OF MICROSATELLITE INSTABLE COLORECTAL CANCER AND LYNCH SYNDROME
M. RAVNIK-GLAVAČ1,2, G. Berginc2, U. Potočnik2, R. Golouh3, D. Glavač2 1 University of Ljubljana, Faculty of Medicine, Institute of Biochemistry, Vrazov trg 2, SI-1000 Ljubljana, Slovenia 2 University of Ljubljana, Faculty of Medicine, Institute of Pathology, Department of Molecular Genetics, Zaloška 4, SI-1000 Ljubljana, Slovenia 3 Institute of Oncology, Zaloška cesta 2, SI - 1000 Ljubljana, Slovenia email: metka.ravnik-glavac@mf.uni-lj.si
page: 35
OP15. MOLECULAR KARYOTYPING - NOVEL POWERFUL TOOL FOR GENE IDENTIFICATION
BALIKOVA I. 1,3, Dimitrov B. 3, Devriendt K. 3,de Ravel T 3 ,Ganev V. 2, Kalev I 1, Vermeesch R.J. 3, Simeonov E. 1 and Fryns J.P. 3 1. Department of Pediatrics, Medical University of Sofia, Bulgaria 2. Department of Chemistry and Biochemistry Medical University of Sofia, Bulgaria 3. Center of Human Genetics, University Hospital Gasthuisberg, KU Leuven, Belgium email: Irina.Balikova@uz.kuleuven.be
page: 42
PS29. GENETICS OF CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFICIENCY
MIRJANA KOCOVA Department for Endocrinology and genetics, Pediatric Clinic, Medical Faculty, Vodnjanska bb, 1000 Skopje, Republic of Macedonia e-mail: ozonunit@unet.com.mk
page: 31
OP17. RAPID DETECTION OF SELECTED ANEUPLOIDIES WITH MOLECULAR METHODS - ADVANTAGES AND DISADVANTAGES
SILVIA ANDONOVA, Radostina Raynova, Ivo Kremensky National Genetics Laboratory, Laboratory of Molecular Pathology, Medical University - Sofia, Bulgaria email: sandonova@netscape.net
page: 43
OP18. GENETICS OF TRIGONOCEPHALY
BOYAN DIMITROV1, Joris Robert Vermeesch 1, Femke Hannes 1, Irina Balikova 1,2, Thomy Jl De Ravel 1, Philippe Debeer 1, Koen Devriendt 1, Jean-Pierre Fryns 1 1. Centre for Human Genetics, University Hospital Gasthuisberg, KU Lueven, Belgium 2. Department of Pediatrics, Medical University of Sofia, Bulgaria email: Boyan.Dimitrov@med.kuleuven.be
page: 43
OP19. RETROSPECTIVE STUDY REGARDING THE TREATMENT IN A SERIES OF 4311 PATIENTS WITH GENETIC DISORDERS
C. JURCA, M. Bembea, O. Florea, D. Bembea Faculty of Medicine and Pharmacy ORADEA Clinical Children Hospital ORADEA - ROMANIA email: cbenchea@yahoo.com
page: 43
OP20. THE INVOLVEMENT OF CERAMIDES IN IMATINIB INDUCED APOPTOSIS AND DRUG RESISTANCE
YUSUF BARAN1,2, Ufuk Gündüz1, Can E. Senkal2, Jacek Bielawski2, Besim Öğretmen2. 1. Middle East Technical University, Department of Biology, TURKEY. 2. Medical University of South Carolina, Department of Biochemistry and Molecular Biology, USA. e-mail: ybaran@metu.edu.tr
page: 44
OP21. STRUCTURAL AND FUNCTIONAL CHARACTERIZATION OF THE HUMAN SOX3 PROMOTER
M, MOJSIN, N, Kovačević-Grujičić, A, Krstić and M, Stevanović Institute for Molecular Genetics and Genetic Engineering, Vojvode Stepe 444a, P.O. Box 23, 11010 Belgrade, Serbia and Montenegro e-mail: mojsin@eunet.yu
page: 44
OP22. TRANSCRIPTIONAL REGULATION OF HUMAN SOX18 GENE - THE ROLE OF SP1 TRANSCRIPTION FACTOR
I, PETROVIC, M, Stevanovic Institute of Molecular Genetics and Genetic Engineering e-mail: hmgbox@eunet.yu
page: 45
PP01. CYTOGENETICS IN MALE INFERTILITY
Huseyin Yuce, Ibrahim Tekedereli, GULAY GULEC CEYLAN, Halit Elyas Department of Medical Biology and Genetics, College of Medicine, Firat University, Elazig, Turkey e-mail: nil_cey@yahoo.com
page: 49
PP02. SCREENING OF Yq POLYMORPHISMS IN TURKISH MALES
Hüseyin Yüce, GÜLAY GÜLEÇ CEYLAN, Ebru Etem, Deniz Erol, Ülkü Özbey, Derya Deveci, Murat Kara, Halit Elyas Firat University Firat Medicine Center, Department of Medical Biology and Genetics, 23119 Elazig TURKEY e-mail: nil_cey@yahoo.com
page: 49
PP03. GENETIC DIAGNOSIS IN INFERTILE MEN WITH NUMERICAL AND CONSTITUTIONAL SPERM ABNORMALITIES
ÇINAR Ç.1, Yazici C.2, Ergünsu Ş.1, Beyazyürek Ç.3, Javadova D.1, Sağlam Y.3, Tarcan T.2, Güney İ.1 1. Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey. 2. Department of Urology, School of Medicine, Marmara University, Istanbul, Turkey. 3. Memorial Hospital, IVF Center, Istanbul, Turkey. e-mail: cigdemcinar78@hotmail.com
page: 49
PP04. CYTOGENETIC AND CLINICAL EVALUATION OF KLINEFELTER'S SYNDROME CASES DETERMINED BY MEDICAL BIOLOGY AND GENETIC DEPARTMENT OF MEDICAL FACULTY IN FIRAT UNIVERSITY IN TERM OF 2000-2006.
Huseyin Yuce, Ulku Ozbey, Ebru Etem, Deniz Erol, Gulay Guleç Ceylan, Sukriye Derya Deveci, MURAT KARA, Halit Elyas Firat University, Firat Medical Center, Medical Biology and Genetic Department, 23119, Elazig, TURKEY e-mail: drmuratkara@hotmail.com
page: 50
PP05. AN AZOOSPERMİC MALE WITH 46,X,+marY KARYOTYPE
DENIZ EROL, Gulay Gulec Ceylan, Huseyin Yuce Firat University Medical Faculty, Department of Medical Genetics, ELAZIG, TURKEY e-mail: denizerol@gmail.com
page: 50
PP06. A CASE WİTH 46,X, +mar (Y), inv(Y) (p11.2 →p11.2) KARYOTYPE
Huseyin Yuce, ULKU OZBEY Firat University, Firat Medical Center, Medical Biology and Genetic Department,23119, Elazig, TURKEY e-mail: uozbey76@hotmail.com
page: 51
PP07. BALANCED TRANLOCATION 14q21q IN A PATIENT WITH KLINEFELTER SYNDROME
A. BABAMETO-LAKU, V. Mokin, M. Cikuli, A. Mitre Medical Genetic Service, University Hospital Center “Mother Teresa”, Faculty of Medicine, Tirana, Albania e-mail: laku62@yahoo.com
page: 51
OP14. AMBIGUOUS ALLELE COMBINATIONS IN HLA CLASS II SEQUENCE-BASED TYPING IN MACEDONIAN POPULATION
A. PETLICHKOVSKI, O. Efinska-Mladenovska, A. Strezova, D. Trajkov, T. Arsov, M. Spiroski Institute for Immunobiology and Human Genetics, Institutes, Faculty of Medicine Skopje, 1109, PO Box 60, Republic of Macedonia email: petlichkovski@yahoo.com
page: 41
PS15. STEM CELL TRANSPLANTATION IN HEMOGLOBINOPATHIES
M. AKIF YESILIPEK Akdeniz University School of Medicine Department of Pediatric Hematology-Oncology Antalya-Turkey; e-mail: yesilipek@akdeniz.edu.tr
page: 23
PS01. The molecular and biochemical basis of chromosomal instability syndromes
Thilo Dörk, Hannover Medical School, Hannover, Germany e-mail: doerk.thilo@mh-hannover.de
page: 15
PS02. X-chromosome inactivation and evolution: A statistical study of skewed X-chromosome inactivation in autoimmune diseases
TAYFUN ÖZÇELİK Bilkent University, Department of Molecular Biology and Genetics, Bilkent – Ankara 06800, Turkeye e-mail: tozcelik@fen.bilkent.edu.tr
page: 15
PS03. FLUORESCENT IN SITU HYBRIDIZATION (FISH): OUR EXPERIENCE
MILENA STEVANOVIĆ Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444a, PO BOX 23, 11010 Belgrade, Serbia and Montenegro e-mail: stevanov@eunet.yu
page: 16
PS04. GENETIC PROFILE OF MALES TREATED AT INFERTILITY CLINIC IN BELGRADE
MIROSLAVA MICIC e-mail: savamira@EUnet.yu
page: 17
PS05. MOLECULAR PROFILING OF TUMORS: FROM BENCHSIDE TO BEDSIDE
KREŠIMIR PAVELIĆ Division of Molecular Medicine, Ruđer Bošković Institute, Zagreb, Croatia e-mail: pavelic@irb.hr
page: 17
PS06. MOLECULAR AND CELLULAR PATHOGENESIS OF CHRONIC LYMPHOCYTIC LEUKEMIA
DIMITAR EFREMOV ICGEB Hematology Group - Monterotondo Outstation, CNR Campus "A. Buzzati-Traverso", Rome, Italy e-mail: efremov@icgeb.org
page: 17
PS07. MOLECULAR ASPECTS OF COLORECTAL CANCER MANAGEMENT ALEKSANDAR J. DIMOVSKI1, T. Josifovski2, N. Petrusevska3
1) Faculty of Pharmacy, University "Sts.Cyril and Methodius", Skopje, R.Macedonia; 2) Clinic for Abdominal Surgery, Clinical Centre, Faculty of Medicine, University "Sts.Cyril and Methodius", Skopje, R.Macedonia; 3) Institute of Radiotherapy and Oncology, Clinical Centre , Faculty of Medicine, University "Sts.Cyril and Methodius", Skopje, R.Macedonia e-mail: adimovski@ff.ukim.edu.mk
page: 18
PP114. THE MTHFR C677T POLYMORPHISM INCREASES THE RISK FOR ESRD IN ROMANIAN DIABETIC AND NONDIABETIC PATIENTS
D CIMPONERIU1, FD Ungureanu2 , C Moldovan2 , P Apostol1, C Serafinceanu3, AM Craciun3, I Radu1, M Stavarachi1, T Mihai1, D Usurelu1, L Dan1 , L. Cherry1, L Dumitrescu1, L Gavrila1, D Cheta3 1. Institute of Genetics, University of Bucharest, Romania 2. "Titu Maiorescu" University, Bucharest, Romania 3. Institute of Diabetes, Nutrition and Metabolic Diseases "Nicolae Paulescu", Romania e-mail: dancimponeriu@yahoo.com
page: 99
PS09. MOLECULAR GENETICS IN THE REPUBLIC OF MACEDONIA
GEORGI D. EFREMOV Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia e-mail: gde@manu.edu.mk
page: 19
PP67.SINGULAR AND SYNDROMATIC ANO-RECTAL MALFORMATIONS
M. BEMBEA, C. Jurca, C. Todor, C. Skrypnyk, R. Spineanu, O. Iuhas Faculty of Medicine and Pharmacie ORADEA Clinical Children Hospital ORADEA - ROMANIA e-mail: bembea@yahoo.com
page: 77
PS11. APPROACHES IN MOLECULAR DIAGNOSTICS OF CANCER AND MUSCULAR DYSTROPHY IN ROMANIA
MARIETA COSTACHE Molecular Biology Centre, Department of Biochemistry, University of Bucharest, 91-95 Spl Independentei, Bucharest 5, 050095, phone/fax 0040213181575 e-mail: marietacostache@yahoo.com; costache@bio.bio.unibuc.ro
page: 20
PS12. MUSCULAR DYSTROPHIES - DIAGNOSTIC APPROACHES IN HUNGARY
VERONIKA KARCAGI1, Henriett Piko1, Judit Balog1, Agnes Herczegfalvi2, Beatrix Palmafy2, Maggie C. Walter3, Rita Horvath3, Hanns Lochmüller3 1) Fodor Jozsef National Center for Public Health, Dept. of Molecular Genetics and Diagnostics, Budapest, Hungary; 2) Bethesda Children's Hospital, Dept. of Neurology, Budapest, Hungary; 3) Friedrich-Baur-Institute and Dept. of Neurology, LMU Munich, Germany e-mail: karcagiv@okk.antsz.hu
page: 21
OP02. OPTIMIZATION OF THERAPY FOR THIOPURINE S-METHYL-TRANSFERASE DEFICIENT CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA PATIENTS
S. AVEIC 1, B. Petrucev 1, L. Dokmanovic 2, M. Radmilovic 1, N. Tosic 1, M. Stojiljkovic 1, T. Karan-Djurasevic 1, T. Kostic 1, D. Janic 2, S. Pavlovic 1 1 Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro 2 University Children's Hospital, Belgrade, Serbia and Montenegro email: zmzg@sezampro.yu
page: 35
PS14. PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES IN TURKEY; PRELUDE TO PREIMPLANTATION DIAGNOSIS FOR SICKLE CELL ANEMIA
MEHMET AKIF ÇÜRÜK Dept.of Biochemistry, Medical Faculty, University of Cukurova, Adana-TURKEY e-mail: akif@cu.edu.tr
page: 22
PS10. PREVENTION OF INHERITED DISORDERS AND CONGENITAL ANOMALIES IN BULGARIA
IVO KREMENSKY Laboratory of Molecular Pathology, Molecular Medicine Center, Medical University-Sofia, Bulgaria email: kremensk@medfac.acad.bg
page: 20
PS16. HUMAN ARTIFICIAL CHROMOSOMES AS VECTORS IN GENE THERAPY
GRIGOR ZORAQI Center of Molecular Diagnosis and Genetic Research, University Hospital of Obstetrics and Gyneacology “Mbreteresha Geraldine”, Bulevardi “Zogu I” 13, Tirana, Albania; e-mail: gzoraqi@hotmail.com
page: 24
PS17. GENETIC ASPECTS OF AGING AND GENETIC PASS
VLADISLAV S BARANOV, Helena Baranova* Ott’s Institute of Obstetrics & Gynecology; Russian Academy for Medical Sciences, St Petersburg, Russia; *European Expert Genetics, Biotechnology and Life Sciences for Health, France e-mail: baranov@VB2475.spb.edu
page: 24
PS18. EPIDEMIOLOGIC SURVEILLANCE OF CONGENITAL ANOMALIES IN EUROPE
INGEBORG BARISIC 1, H. Dolk 2, and Eurocat Working Group 3 1) Children's University Hospital Zagreb; 2) Central Registry, University of Ulster, Northern Ireland; 3) http://www.eurocat.ulster.ac.uk/ email: ingeborg.barisic@kdb.hr
page: 25
PS19. PHYLOGEOGRAPHY OF Y-CHROMOSOMAL AND MITOCHONDRIAL LINEAGES AND LANGUAGE AFFINITIES OF EURASIAN POPULATIONS
ELZA KHUSNUTDINOVA1, M.Bermisheva1, I.Kutuyev1, R.Khusainova, B.Malyarchuk2, V.Stepanov3, T.Kivisild4, R.Villems4. 1. Institute of Biochemistry and Genetics of Ufa Science Center of RAS, Ufa, Russia,2. Institute of Biology of the North, Magadan, Russia, 3. Institute of Medical Genetics, Tomsk, Russia, 4. Tartu University and Estonian Biocenter, Tartu, Estonia. e-mail: elzakh@rambler.ru
page: 25
PS20. SIGNIFICANCE OF MOLECULAR EPIDEMIOLOGY IN A SMALL ISLAND POPULATION
ALEX.E. FELICE Laboratory of Molecular Genetics, Department of BioMedical Science, University of Malta, and Division of Pathology, St. Luke’s Hospital, Malta e-mail: alex.felice@um.edu.mt
page: 26
PS21. HISTORICAL OVERVIEW OF HUMAN POPULATION-GENETIC STUDIES IN BOSNIA AND HERZEGOVINA DURING THE LAST THREE CENTURIES
DAMIR MARJANOVIĆ Institute for Genetic Engineering and Biotechnology, Kemalbegova 10, 71.000 Sarajevo, Bosnia and Herzegovina e-mail: damir.marjanovic@ingeb.ba
page: 27
PS22. POPULATION STRUCTURE OF Y CHROMOSOME STR HAPLOTYPES, AND SNP HAPLOGROUPS IN MACEDONIAN POPULATION
MIRKO SPIROSKI1, Todor Arsov1, Lutz Roewer2, Sascha Willuweit2, Cíntia Alves3, Leonor Gusmão3 1Institute of Immunobiology and Human Genetics, Faculty of Medicine, University "Ss Kiril and Metodij", 50 Divizija No.6, 1109 Skopje, Republic of Macedonia; 2Institute of Legal Medicine, Faculty of Medicine (Charité), Hannoversche Sir. 6, D-10115 Berlin, Germany; 3IPATIMUP, Instituto de Patologia e Imunologia Molecular da Universidade do Porto, R. Dr. Roberto Frias s/n, 4200-465 Porto, Portugal
page: 27
PS23. GENETIC COUNSELLING, GENETIC EDUCATION AND BIOETHICS
HELENA KÄÄRIÄINEN University of Turku, Turku, Finland e-mail: hkaaria@utu.fi
page: 28
PS24. ECOGENETICS AND PHARMACOGENETICS OF CORONARY ATHEROSCLEROSIS
PIER FRANCO PIGNATTI Section of Biology and Genetics, Department of Mother and Child, Biology and Genetics University of Verona, Italy e e-mail: Pierfranco.pignatti@univr.it
page: 29
PS25. GENOMIC BIOMARKERS FOR NEURODEGENERATIVE DISORDERS
BORUT PETERLIN, Kastrin A, Lovrecic L Division of Medical Genetics, Department of Obsterics and Gynecology, UMC Ljubljana, Slajmerjeva 3, 1000 Ljubljana, Slovenia, e-mail: borut.peterlin@guest.arnes.si
page: 29
PS26. A HETEROGENEOUS GROUP OF DISORDERS: SPINOCEREBELLAR ATAXIAS GENETIC BASES AND MOLECULAR DIAGNOSES
Nazan Saner, A. NAZLI BAŞAK Boğaziçi University, Molecular Biology and Genetics Department; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory e-mail: basak@boun.edu.tr
page: 29
PS27. ALPHA HEMOGLOBIN STABILIZING PROTEIN AND HEMOGLOBIN DISORDERS
HENRY WAJCMAN*, V. Baudin-Creuza**, C. Vasseur-Godbillon**, M. Marden** * INSERM U654, Hopital Henri Mondor,94010 Creteil, France; ** INSERM U473,Hopital de Bicetre, Le Kremlin-Bicetre, France e-mail: Henri.Wajcman@im3.inserm.fr
page: 30
PS28. MOLECULAR BASIS OF ALPORT SYNDROME AND BENIGN FAMILIAL HEMATURIA
DAMJAN GLAVAC Department of Molecular Genetics, Institute of Pathology, Medical faculty Ljubljana, Slovenia e-mail: Damjan.glavac@mf.uni-lj.si
page: 30
PS13. PREIMPLANTATION GENETIC DIAGNOSIS AS AN ALTERNATIVE FOR PRENATAL DIAGNOSIS
JOEP P.M. GERAEDTS Universiteit Maastricht, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands, Tel: +31 43 3875840 e-mail: joep.geraedts@gen.unimaas.nl
page: 22
PP55. ANALYSIS OF SEPARATE AND COMBINATORIAL ABERRATIONS OF EGFR, C-MYC, ZNF217 AND CCND1 GENES IN LARYNX CANCER
D. KOYNOVA1, V. Tsenova2, K. Kunev3 and D. Toncheva1 1. Department of Medical Genetics, Medical University, Sofia, Bulgaria 2. Department of Pathology, University Hospital "Queen Joanna", Sofia, Bulgaria 3. Department of Head and Neck, University Hospital "Queen Joanna", Sofia, Bulgaria e-mail: dragatoncheva@yahoo.com
page: 72
PP39. MOLECULAR ANALYSIS OF MUTATIONS FOR THE APC GENE IN ROMANIAN PATIENTS WITH COLORECTAL CANCER
M. TOMA1, L. Belusica3, D. Cimponeriu2, Pompilia Apostol2, Monica Stavarachi2, Ioana Dumitrescu3, Anne Marie Craciun3, Usurelu Dana2, Irina Radu2, L. Gavrila2 1. Clinical Emergency Military Central Hospital, Bucharest, 2. Institute of Genetics, Bucharest , 3. Clinical Hospital Dr. Cantacuzino, Bucharest. e-mail: iahim_t@yahoo.com
page: 64
PP40. MOLECULAR MARKERS SIGNIFICANCE IN COLORECTAL CANCER
AURA MIHALCEA, Valeria Tica, C.D. Tesio, Anca Dinischiotu, Marieta Costache, Elena Ionica University of Bucharest, Molecular Biology Center e-mail: aura_it2002@yahoo.com; elena.i@unibuc.ro
page: 65
PP41. APC GENE MUTATION ANALYSES IN CASES WITH COLON CANCER
ONRAT T.S1, Ellidokuz E2.,Küpelioğlu A3., Durhan E1., 1. Department of Biology , Molecular Biology, Afyon Kocatepe University Science Faculty, Afyon, Turkey. 2. Department of Internal Medicine and Gastroenterology, School of Medicine, Celal Bayar University , Manisa, Turkey. 3. Güneş Patology Laboratuary, Alsancak, İzmir, Turkey. e-mail: tutgunonrat@yahoo.com
page: 65
PP42. P53 Intronic variant G13964C analyses in cases with colon cancer
Onrat T.S1, Ellidokuz E2.,Küpelioğlu A3., Durhan E1., 1. Department of Biology , Molecular Biology, Afyon Kocatepe University Science Faculty, Afyon, Turkey. 2. Department of Internal Medicine and Gastroenterology, School of Medicine, Celal Bayar University , Manisa, Turkey. 3. Güneş Patology Laboratuary, Alsancak, İzmir, Turkey. e-mail: tutgunonrat@yahoo.com
page: 65
PP43. GENE MUTATION ANALYSES OF P53 Arg72Pro IN CASES WITH COLON CANCER
ONRAT T.S1, Ellidokuz E2.,Küpelioğlu A3., Durhan E1., 1. Department of Biology , Molecular Biology, Afyon Kocatepe University Science Faculty, Afyon, Turkey. 2. Department of Internal Medicine and Gastroenterology, School of Medicine, Celal Bayar University , Manisa, Turkey. 3. Güneş Patology Laboratuary, Alsancak, İzmir, Turkey. e-mail: tutgunonrat@yahoo.com
page: 66
PP44. LOW PENETRANCE ALLELS PREDISPOSING TO COLORECTAL CANCER IN MACEDONIAN PATIENTS
Z. STERJEV1, Z. Serafimovska1, A. Kapedanovska1, M. Hiljadnikova-Bajro1, T. Josifovski2, M. Panovski2, L. Suturkova1, A. J. Dimovski1 1. Faculty of Pharmacy, University "Sts.Cyril and Methodius", Skopje, R. Macedonia 2. Clinic for Abdominal Surgery, Faculty of Medicine, University "Sts.Cyril and Methodius", Skopje, R. Macedonia e-mail: adimovski@ff.ukim.edu.mk
page: 67
PP46. FAMILIAL COLORECTAL CANCER IN MACEDONIA
T. JOSIFOVSKI1, M. Hiljadnikova-Bajro2, Z. Sterjev2, A. Kapedanovska2, Z. Serafimovska2, M. Panovski1, L. Suturkova2, A. J. Dimovski2 1. Clinic for Abdominal Surgery, Faculty of Medicine, University Sts.Cyril and Methodius", Skopje, R. Macedonia 2. Faculty of Pharmacy, University "Sts.Cyril and Methodius", Skopje, R. Macedonia e-mail: adimovski@ff.ukim.edu.mk
page: 68
PP48. PROGNOSTIC SIGNIFICANCE OF THE HPV STATUS IN EARLY STAGE CERVICAL CARCINOMA
K. KUBELKA-SABIT, I. Prodanova, G. Yashar, G. Zografski, N. Basheska Department of Histopathology and Clinical Cytology, Institute of Radiotherapy and Oncology, Clinical Center, Skopje, Macedonia e-mail: catkubelka@yahoo.co.uk
page: 69
PP49. ANALYSIS OF MTHFR C677T MUTATION IN PATIENTS WITH PANCREATIC CANCER
I. NISEVIC1, J. Dinic1, S. Lukic2, M. Ugljesic2, A. Nikolic1 1. Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro 2. Department of Gastroenterology, Clinical Center of Serbia, Belgrade, Serbia and Montenegro e-mail: qwert@eunet.yu
page: 69
PP50. INVESTIGATION THE ASSOCIATION BETWEEN HUMAN HERPESVIRUS (HSV) 1, 2, 6 , 7 POSITIVE AND TLR9 GENE POLYMORPHISM IN THE PROSTATE CANCER
EBRU ETEM1, Yasemin Bulut2, Nusret Akpolat3, Ebru Korkmaz2, Hüseyin Yüce1, Mehmet Yapar4. 1. Firat University, Medical Faculty, Department of Medical Biology and Genetic, ELAZIG. 2. Firat University, Medical Faculty, Department of Microbiology and Clinical Microbiology, ELAZIG. 3. Firat University, Medical Faculty, Department of Pathology, ELAZIG. 4. Gulhane Military Medical Academy, Deparment of Virology, ANKARA. e-mail: ebruetem@gmail.com
page: 70
PP51. ASSOCIATION OF p53 CODON 72 POLYMORPHISM WITH THYROID CANCER IN TURKISH PATIENTS
Cenk Aral1, Sinan Çağlayan2, ŞİRİN MASSOUMILARY1, Özgur Sönmez1, Hüseyin Baloğlu3, Gökhan Özışık2, Mustafa Akkiprik1, Metin Özata2, Ayşe Özer1 1. Marmara University, School of Medicine, Department of Medical Biology, Tibbiye C., No.49, Haydarpasa, Istanbul, Turkey Gulhane Military School of Medicine, 2. Department of Endocrinology; 3. Pathology, Haydarpasa, Istanbul, Turkey e-mail: sirin.masumi@gmail.com
page: 70
PP52. ABERRATIONS IN TP53 AND P53 PATHWAY (MDM-2 AND P14ARF) GENES IN LOW GRADE GLIOMAS AND THEIR CLINICAL EFFECTS
EREN P.1, Uyar S.2, Topuzoğlu A.3, Kılıç T.4, Aker F.5, Erdağ B.6, Sav A.2, Pamir M.N.4, Çırakoğlu B1. 1. Marmara University Department of Medical Biology and Genetics; 2. Marmara University Institute of Neurological Sciences Department of Pathology, 3. Marmara University Department of Public Health, 4. Marmara University Department of Neurosurgery, 5. Haydarpasa Numune Research and Education Hospital Pathology Laboratuary; 6. Scientific and Technical Research Council of Turkey, Marmara Research Center e-mail: pinaren@yahoo.com; pinaren@gmail.com
page: 71
PP38. GENOTYPING IN TUMOR AND ADJACENT NORMAL TISSUES OF 3435 C>T AND 2677 G>T MDR1 POLYMORPHISMS IN BULGARIAN PATIENTS WITH COLORECTAL CANCER AND CONTROLS
D. T. PETROVA1, P. Nedeva2, S. Maslyankov3, S. Toshev4, N. Yaramov4, S. Atanasova5, D. Toncheva1, M. Oellerich5, N. von Ahsen51Department of Medical Genetics, Medical University-Sofia, Sofia, Bulgaria, 2Department of Pathology, Regional Oncology Dispensary with Inpatient sector, Veliko Tarnovo, Bulgaria, 3Department of Surgery, Regional Oncology Dispensary with Inpatient sector, Veliko Tarnovo, Bulgaria, 4Department of Surgery, University Hospital "Aleksandrovska", Sofia, Bulgaria, 5Department of Clinical Chemistry, Georg-August-University, Goettingen, Germany. e-mail: darinka_petrova@abv.bg
page: 63
PP54. INCREASED C-MYC COPY NUMBERS ON THE BACKGROUND OF CDKN2A LOSS IS ASSOCIATED WITH IMPROVED SURVIVAL IN NODULAR MELANOMA
D. KOYNOVA1, E. Jordanova2, N. Kukutsch3, P. van der Velden3, D. Toncheva1 and N. Gruis3 1. Department of Medical Genetics, Medical University, Sofia, Bulgaria; 2. Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands; 3. Department of Dermatology, Leiden University Medical Center, Leiden, the Netherlands e-mail: dragatoncheva@yahoo.com
page: 72
PP45. GENOMIC INSTABILITY PATTERNS IN PATIENTS WITH COLORECTAL CANCER FROM MACEDONA
T. JOSIFOVSKI1, M. Hiljadnikova-Bajro2, Z. Sterjev2, A. Kapedanovska2, Z. Serafimovska2, M. Panovski1, L. Suturkova2, A. J. Dimovski2 1. Clinic for Abdominal Surgery, Faculty of Medicine, University Sts.Cyril and Methodius", Skopje, R. Macedonia 2. Faculty of Pharmacy, University "Sts.Cyril and Methodius", Skopje, R. Macedonia e-mail: adimovski@ff.ukim.edu.mk
page: 67
PP56. BCR/ABL FUSION IN A CHILD WITH CHRONIC MYELOIC LEUCAEMIA
Z. GUCEV1, S. Koceva1, O. Muratovska1, S. Glamocanin1, Gj. Jovanov2, V. Vankovska1, L. Tasevska1, B Taseva1, A. Jancevska1 1. Pediatric Clinic, Medical faculty, Skopje, 2. Health Station Skopje, R. Macedonia e-mail: gucevz@gmail.com
page: 73
PP57. COMPLEX CHROMOSOMAL ABNORMALITIES IDENTIFIED IN CHRONIC MYELOID LEUKEMIA AT DIAGNOSIS
A. LUNGEANU1, A. Arghir1, N. Berbec1,2, S. Chirieac1, G. Mocanu3, S. Angelescu2 1. Victor Babes National Institute, Bucharest, Romania 2. Carol Davila University of Medicine and Pharmacy, Bucharest, Romania 3. Coltea Clinical Hospital, Bucharest, Romania e-mail: agripina_lungeanu@yahoo.com
page: 73
PP58. ABERRANT BASOPHILIA IN CHRONIC MYELOID LEUKEMIA AND ADDITIONAL CHROMOSOMAL CHANGES
N. BERBEC1,2, S. Chirieac1, A. Arghir1, S. Angelescu2, A. Lungeanu1 1. Victor Babes National Institute, Bucharest, Romania 2. Carol Davila University of Medicine and Pharmacy, Bucharest, Romania e-mail: albinuta@vbabes.ro
page: 73
PP59. NON SPECIFIC CHROMOSOME DELETION IN M3 NON-LYMPHOCYTIC LEUKEMIA
G. ILIEVA1, L. Cevreska2 and M. Kocova1 1. Pediatric Clinic, Medical Faculty, Skopje, Republic of Macedonia 2. Clinic for Hematological diseases, Medical Faculty, Skopje, Republic of Macedonia e-mail: anet@freemail.com.mk
page: 74
PP60. PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS: HIGH-RISK TRANSFORMATION TO LYMPHOMA. CYTOGENETIC AND MOLECULAR STUDY OF 34 CASES
STAVROULA KOKKINOU, ,C.Tzanidakis, A.Lindou, H.Alafaki, R.Hatzikyriakou, G.Floropoulou, A.Haralambopoulou, E.Fakiri, K.Pavlou, Cytogenetic Unit, Sismanoglion General Hospital, Athens, Greece. e-mail: sismlibr@hotmail.com
page: 74
PP61. IS THERE ANY RELATION BETWEEN THE NQO1 C609T POLIMORPHISM AND CYTOGENETICS ABNORMALITIES IN MDS ?
G. BAĞATIR1, Ş. Palanduz1, S. Sirma², U. Özbek², M. Nalçaci³, Ş.Öztürk1, K.Çefle1, Ş.Candan1 1. Istanbul University, Istanbul Medical Faculty Department of Internal Medicine, Division of Medical Genetics. 2. Istanbul University, Instute of Experimantal Medicine Department of Genetics. 3. Istanbul University Istanbul Medical Faculty Department of Internal Medicine, Division of Heamatology. e-mail: gbttkn@yahoo.co.uk
page: 75
PP62. MYELODYSPLASTIC SYNDROME WITH NUMERICAL AND STRUCTURAL CHROMOSOME ABNORMALITIES - CASE REPORT
A. ARGHIR1, S. Chirieac1, N. Berbec1,2, G. Vulcan3, A. Lungeanu1 1. Victor Babes National Institute, Bucharest, Romania 2. Carol Davila University of Medicine and Pharmacy, Bucharest, Romania 3. Emergency Clinical Hospital, Brasov, Romania e-mail: albinuta@vbabes.ro
page: 75
PP63. AIDIT AND IMPACT: STRENGTHENING RESEARCH TIES IN EASTERN EUROPE
Luleci G1, Doherty R2, Lubinski J3, MANGUOGLU E1, Christie M2, Bancroft E2, Mitra A2, Morgan S2, Zieba K3, Eeles R2 1. Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey; 2. The Institute of Cancer Research, London, United Kingdom; 3. International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland e-mail: luleci@akdeniz.edu.tr
page: 76
PP64. KLINEFELTER SYNDROME AND SYSTEMIC LUPUS ERITHMATOHOSUS: CASE REPORT
CEFLE A¹, Cefle K², Ozturk S², Pehlivan D³, Palanduz S² ¹ Kocaeli Universty Medical Faculty,Dep. of Internal Medicine Division of Rhematology ² Department of Internal Medical Genetics; Istanbul Medical Faculty, Istanbul University ³Istanbul University Istanbul Medical Faculty, Department of Medical Genetics e-mail: davutpehlivan@yahoo.com
page: 76
PP65. PERSISTENT MÜLLERIAN DUCT SYNDROME AND ASSOCIATION WITH KLINEFELTER'S SYNDROME
A. PAPAZOVSKA-CEREPNALKOVSKI, M. Kocova Department for Endocrinology and genetics, Pediatric Clinic, Medical Faculty, Skopje, Republic of Macedonia e-mail: anet@freemail.com.mk, anet@cable.com.mk
page: 77
PP66. PHENOTYPIC VARIABILITY IN DANDY-WALKER COMPLEX
M. BEMBEA, C. Jurca, S. Costea, Ş. Bembea, Al. Jurca, R. Harbuz Faculty of Medicine and Pharmacie ORADEA Clinical Children Hospital ORADEA - ROMANIA e-mail: bembea@yahoo.com
page: 77
PS08. LATEST ADVANCES IN THE IDENTIFICATION OF BREAST CANCER SUSCEPTIBILITY ALLELES
NATALIA BOGDANOVA State Organization Scientific-Practical Center “Mother and Child”, Minsk, Belarus, and Gynaecology Research Unit, Hannover Medical School, Hannover, Germany. e-mail: nata_bogdanova@yahoo.com
page: 18
PP09. CYTOGENETIC ANALYSIS OF MISCARRIAGES IN PREGNANCY EARLY STAGES
JASMINA DURKOVIC1, Luka Andjelic2, Miladin Knezevic2 Medical centre Subotica, 1. Department of Genetics; 2. Gynecology and obstetrics ward, Subotica, Serbia and Montenegro e-mail: megalab@ptt.yu
page: 52
PP53. PREFERENTIAL LOCALIZATION OF LOW GRADE GLIOMAS WITH INCREASED MGMT AND P53 EXPRESSION
EREN P.1, Uyar S.2, Kılıç T.3, Topuzoğlu A.4, Erdağ B.5, Sav A2, Pamir M.N 3, Çırakoğlu B1 1. Marmara University Department of Medical Biology and Genetics 2. Marmara University Institute of Neurological Sciences Department of Pathology, 3. Marmara University Department of Neurosurgery, 4. Marmara University Department of Public Health, 5. Scientific and Technical Research Council of Turkey, Marmara Research Center e-mail: pinaren@yahoo.com; pinaren@gmail.com
page: 71
PP18. THE GENETICS OF PREMATURE CENTROMERE SEPARATION SYNDROMES
BAJIC VLADAN1, Potparevic-Spremo Biljana2, Djelic Ninoslav3 and Lada Zivkovic2 1. Institute for Biomedical Research, Galenika a.d., Serbia and Montenegro 2. Department of Biology, Faculty of Pharmacy, University of Belgrade, 3. Department of Biology, Faculty of Veterinary Medicine, University of Belgrade, Serbia and Montenegro e-mail: vladanpfd@eunet.yu
page: 55
PP10. CYTOGENETIC RESULTS OF RECURRENT SPONTANEOUS ABORTIONS IN TURKEY
Huseyin Yuce, IBRAHIM TEKEDERELI, Halit Elyas Department of Medical Biology and Genetics, College of Medicine, Firat University, Elazig, Turkey e-mail: itekedereli@yahoo.com
page: 52
PP11. THE CASE WITH PRİMARY AMENORRHEA PRESENTED WİTH A 46,X,del(X),(q23)
Ebru Etem, Hüseyin Yüce, ŞÜKRİYE DERYA DEVECİ Firat University, Firat Medical Center, Medical Biology and Genetic Department, 23119, Elazig, TURKEY e-mail: ddeveci38@hotmail.com
page: 52
PP12. THE FREQUENCY OF CHROMOSOME ABNORMALITIES DETECTED IN GIRLS WITH PRIMARY AND SECONDARY AMENORRHOEA
LAZOVSKA B., Popova M., Georgieva S. Dept. of Obstetrics and Gynecology, Clinical Center Skopje, Macedonia e-mail: lazovska@unet.com
page: 53
PP13. KARYOTYPE IN GIRLS WITH TURNER SYNDROME WHO DEVELOP SPONTANEOUS PUBERTY
A. SREDOVSKA, E. Sukarova-Angelovska and M. Kocova Cytogenetic Laboratory, Department for Endocrinology and genetics, Pediatric Clinic, Medical Faculty, Skopje, Republic of Macedonia e-mail: srede_79@hotmail.com
page: 53
PP14. A CASE OF ULLRICH-TURNER SYNDROME WITH 45,X (%73.4)/46,XY (%27.7) KARYOTYPE DEVELOPED GONADOBLASTOMA
EBRU ETEM, Hüseyin Yüce Firat University, Firat Medical Center, Medical Biology and Genetic Department, 23119, Elazig, TURKEY e-mail: ebruetem@gmail.com
page: 54
PP15. STAGE-SPECIFIC DNA METHYLATION PATTERNS OF METAPHASE CHROMOSOMES IN HUMAN PREIMPLANTATION EMBRYOS
PENDINA A.A., Efimova O.A., Leont'eva O.A., Fedorova I.D., Kuznetzova T.V. and Baranov V. S. Ott's Institute of Obstetrics & Gynecololgy RAMS, Saint-Petersburg, Russia, Saint-Petersburg State University, Russia e-mail: pendina@mail.ru
page: 54
PP47. MICROSATELITE INSTABILITY IN BULGARIAN ENDOMETRIAL CANCER PATIENTS
D.V.KONSTANTINOVA 1,4, T.T. Kadiyska 1, R.P.Kaneva 1, S.I.Ivanov 2, R.G.Dimitrov 3, K.P.Meinhardt 5, N.I.Doganov 3, V.I.Mitev 4, I. M.Kremensky 1 1. Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynecology "Maichin Dom", Sofia, Bulgaria 2. Clinic of Oncogynecology, National Centre of Oncology, Sofia, Bulgaria 3. Clinic of Operative Gynecology, University Hospital of Obstetrics and Gynecology "Maichin dom", Sofia, Bulgaria 4. Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria 5. Pathology Unit, University Hospital of Obstetrics and Gynecology "Maichin Dom", Sofia, Bulgaria e-mail: darivko@gmail.com
page: 68
PP17. BALANCED RECIPROCAL TRANSLOCATION 46XX, t(3,5) IN IVF PATIENT: A CASE REPORT
M. VASILEVSKA, A. Anevska-Mitrevska, A.-M. Stefanovska, S. Lazarevski Special Hospital for Obstetrics and gynecology “Mala Bogorodica – Sistina”, Skopje, R. Macedonia
page: 55
PP37. GENETIC TESTING FOR HEREDITARY NONPOLYPOSIS COLORECTAL CANCER IN BULGARIA
TANYA K. KADIYSKA1,3, T. Goranova1, G. Dineva1, D.G. Nedin2, A.B. Alexandrova2, A. Gegova2, R.P. Kaneva1, D.N. Damyanov2, V.Iv. Mitev3, I.M. Kremensky1 1. National Genetics Laboratory, Laboratory of Molecular Pathology, Medical University - Sofia, Bulgaria 2. Clinic of Abdominal Surgery, Queen Giovanna Hospital, Sofia, Bulgaria 3. Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria e-mail: alextanya@excite.com
page: 63
PP19. CHROMOSOME INSTABILITY OF CHILDREN WITH BONE MARROW FAILURE - SINGLE CENTRE EXPERIENCE
CIRKOVIC S., Guc-Scekic M., Vujic D., Micic D. Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Belgrade, Serbia and Montenegro e-mail: margosanci@yahoo.com
page: 56
PP20. DETECTION OF 22q11.2 DELETION SYNDROME BY FLUORESCENT in situ HYBRIDIZATION (FISH)
D. DRAKULIĆ1, M. Seović1, G. Čuturilo2, I. Jovanović2, M. Stevanović1 1. Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro; 2. Department of Pediatric Cardiology, University Children's Hospital, Belgrade, Serbia and Montenegro e-mail: drcad@eunet.yu
page: 56
PP21. CYTOGENETIC EVALUATION OF AMBIGUOUS GENITALIA IN PEDIATRIC PATIENTS.
EBRU ETEM, Ulku Ozbey, Huseyin Yuce Firat University, Firat Medical Center, Medical Biology and Genetic Department, 23119,Elazig, TURKEY e-mail: uozbey76@hotmail.com
page: 57
PP22. THE USEFULNESS OF FISH-METHOD FOR DIAGNOSIS OF WILLIAMS-BEUREN SYNDROME
N.G. GOROVENKO, E.G. Yevseenkova, T.E. Zerova - Lyubimova, L.P. Sheiko, N.A. Tishchenko, L.I. Brishevac Department of Medical Genetics, National Medical Academy for Postgraduate Education named after P.L.Shupyk. Ministry of Public Health of Ukraine, Kyiv, Ukraine e-mail: svpodolskaya@mail.ru
page: 57
PP23. THE BASIC AND PRACTICAL IMPLICATIONS OF QUANTITATIVE FLUORESCENCE IN SITU HYBRIDIZATION (QFISH)
IOUROV I.Y.1,2, Vorsanova S.G.1,2, Monakhov V.V.1,2, Soloviev I.V.1, Kurinnaya O.S.2, Yurov Y.B.1,2 1. National Research Center of Mental Health, RAMS, Moscow, Russia; 2. Institute of Pediatrics and Children Surgery, Roszdrav, Moscow, Russia. e-mail: y_yurov@yahoo.com
page: 58
PP30. DETECTION OF PRADER-WILLI SYNDROME USING FLUORESCENT in situ HYBRIDIZATION
M. SEOVIĆ1, D. Drakulić1, M. Bocić1, S. Branković-Nikšić2, M. Stevanović1 1. Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro; 2. Department of Medical Genetics, Institute of Mental Health Belgrade, Serbia and Montenegro e-mail: macmac@eunet.yu
page: 60
PP24. A FETUS WITH BISATELLITED MATERNALLY INHERITED CHROMOSOME 15
OZGUR KIRBIYIK1, Ferda Ozkinay2, Derya Ercal3, Haluk Akin1 1: Ege University Faculty of Medicine Department of Medical Genetics 2:Ege University Faculty of Medicine Department of Pediatrics Genetics Subdivision 3:Dokuz Eylul University Faculty of Medicine Department of Pediatrics Genetics Subdivision e-mail: kirbiyikozgur@gmail.com
page: 58
PP32. MOLECULAR CYTOGENETIC STUDY OF LOW-LEVEL CHROMOSOMAL MOSAICISM IN CHILDREN WITH AUTISM BY INTERPHASE FISH
VORSANOVA S.G.1, 2, Iourov I.Y.1, 2, Voinova-Ulas V.Y.2, Gorbachevskaya N.L.1, Demidova I.A.1, 2, Beresheva A.K.1, 2, Monakhov V.V.1, Kravets V.S.2, Kolotii A.D.2, Yurov Y.B.1, 2. 1. National Research Center of Mental Health, RAMS, Moscow, Russia; 2. Institute of Pediatrics and Children Surgery, Roszdrav, Moscow, Russia. e-mail: y_yurov@yahoo.com
page: 61
PP33. INTERPHASE FISH STUDY OF ANEUPLOIDY RATE IN THE BRAIN TISSUES OF PATIENTS WITH ATAXIA-TELANGIECTASIA
YUROV Y.B.1,2, Iourov I.Y.1,2, Kolotii A.D.2, Beresheva A.K.1,2, Liehr T.3, Vorsanova S.G.1,2. 1. National Research Center of Mental Health, RAMS, Moscow, Russia; 2. Institute of Pediatrics and Children Surgery, Roszdrav, Moscow, Russia. e-mail: y_yurov@yahoo.com
page: 61
PP16. PARTIAL TRISOMY 13q3 SYNDROME DUE TO DE NOVO DUPLICATION
A.BABAMETO-LAKU, M. Cikuli V. Mokin, A. Mitre Medical Genetic Service, University Hospital Center "Mother Teresa", Faculty of Medicine, Tirana, Albania e-mail: laku62@yahoo.com
page: 54
PP34. MICRONUCLEUS INDUCTION BY DOXORUBICIN
DANA USURELU, Maria- Veronica Teleanu, Dan Cimponeriu, Irina Radu, Lucian Gavrila Genetic Institute, University Bucharest, Romania e-mail: usurelud@yahoo.com
page: 62
PP35. 17-β ESTRADIOLE INDUCED MICRONUCLEUS FORMATION IN HUMAN LYMPHOCYTES
G.S. Güven, T. Cuna, N. Birinci , M. Güven , İ. Onaran, S. Hacihanefioğlu, TURGUT ULUTİN Department of Medical Biology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey e-mail: ulutin@istanbul.edu.tr
page: 62
PP29. CASE: PRADER-WILLI SYNDROME
Dr SUKRU OZTURK1, Dr İlhan Satman2, Dr Davut Pehlivan3, Dr Kivanc Cefle1, Dr Sukru Palanduz1, Dr Nilgun Duman4 1. İstanbul University, İstanbul Medical Faculty, Department of Internal Medicine, Division of Medical Genetics, Şehremini, Fatih, İstanbul, Türkiye 2: İstanbul University, İstanbul Medical Faculty, Department of Internal Medicine, Division of Endocrinology and Metabolism, Şehremini, Fatih, İstanbul, Türkiye 3: İstanbul University, İstanbul Medical Faculty, Department of Medical Genetics, Şehremini, Fatih, İstanbul, Türkiye 4: Ministery of Health, İstanbul İl Sağlık Müdürlüğü, Eminönü, İstanbul e-mail: sozturk@istanbul.edu.tr
page: 60
PP28. MOLECULAR SCREENING OF FRAXA AND FRAXE MENTAL RETARDATION SYNDROMES
Ebru Etem, Ulku Ozbey, HUSEYIN YUCE Firat University, Firat Medical Center, Medical Biology and Genetic Department,23119,Elazig, TURKEY e-mail: uozbey76@hotmail.com
page: 59
PP27. APPLICATIONS OF CYTOGENETIC AND MOLECULAR GENETIC TESTING IN INDIVIDUALS WITH MENTAL RETARDATION
ULKU OZBEY, Murat Kara, Huseyin Yuce Firat University, Firat Medical Center, Medical Biology and Genetic Department,23119, Elazig, TURKEY e-mail: uozbey76@hotmail.com
page: 59
PP 26. OBSERVING WITH FISH METHODS FOR SHORTENING OF TELOMERE WITH ESSENTIAL HYPERTENSION
ONRAT T.S1, Tomatir A.G2 1 Department of Biology , Molecular Biology and Genetics, Afyon Kocatepe University Science Faculty, Afyon, Turkey; 2 Department of Medical Biology, Pamukkale University Medical Faculty, Denizli, Turkey. e-mail: tutgunonrat@yahoo.com
page: 59
PP25. CRYPTIC SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS IN CASES WITH IDIOPATHIC MENTAL RETARDATION AND DYSMORPHIC FEATURES
M. Ozcan Caliskan1, E. Mıhci2, S. Berker Karaüzüm1, S. Tacoy2, G. LULECI1 1 Akdeniz University, Faculty of Medicine, Department of Medical Biology and Genetics, 2 Akdeniz University, Faculty of Medicine, Department of Pediatrics, Antalya, TURKEY e-mail: luleci@akdeniz.edu.tr
page: 58
PP36. EFFECT OF HIGHT-GLUCOSE CONCENTRATION ON THE EXPRESSION OF TYPE I AND III COLLAGEN IN CULTURED HUMAN SKIN FIBROBLASTS
ANDREEA IREN SERBAN1, E. Condac2, Anca Dinischiotu2, Marieta Costache2 1 University of Agricultural Sciences and Veterinary Medicine Bucharest, Faculty of Veterinary Medicine, 105 Spl. Independentei, Bucharest 5, 050095, Romania; 2 University of Bucharest, Molecular Biology Center, 91-95 Spl. Independentei, Bucharest 5, 050095, Romania e-mail: irensro@yahoo.com
page: 62
PP31. FISH ANALYSIS OF 17q /BRCA1 IN COLORECTAL CANCER
VALERIA TICA, Aura Mihalcea, Catalina Luca, Marieta Costache, Elena Ionica Bucharest University - Molecular Biology Center e-mail: tvaleria@bio.bio.unibuc.ro, valltic@yahoo.com
page: 61



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The 9th Balkan Congress of Medical Genetics
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10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


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