| ORAL ABSTRACTS | |
| 18 APRIL 2019 - THURSDAY | |
| HALL B 17:30 - 18:30 | |
| S-01 | A case report of X-Linked Hypophosphatemic Rickets (XLHR) with a novel mutation in the PHEX gene Hilal Yücel, Ayhan Abacı, Özlem Giray Bozkaya |
| S-02 | A New Case Of Chromosome 3q13.31 Deletion Syndrome Pelin Ozyavuz Cubuk |
| S-03 | Application of NGS technology in rare diseases diagnostics: a Serbian experience Branka Zukic, Kristel Klaassen Ljubicic, Natasa Tosic, Maja Stojiljkovic, Jelena Peric, Marina Andjelkovic, Sonja Pavlovic |
| S-04 | A de novo 6q21q22.33 deletion in a boy with microcephaly, developmental delay and dysmorphic features Zulal Keles, Pelin Ozyavuz Cubuk, Altug Koc, Murat Derya Ercal |
| S-05 | Interpretation of m.3243A>G in mtDNA in Clinical Expressivity Versus Tissue Heteroplasmy Ratios with Text Mining Analysis Gökçen Şahin, Çağrı Güleç, Seher Başaran, Zehra Oya Uyguner |
| S-06 | A six - year retrospective study of amniocentesis: one centre experience Cem Yener, Füsun Varol, Hakan Gürkan, Işıl Uzun, Havva Sütçü, Emine İkbal Atlı, Çisem Mail, Sinan Ateş, Cenk Sayın |
| S-07 | The second reported family as Santos syndrome with a novel mutation in WNT7A Mehmet Bugrahan Duz, Cigdem Aktuglu Zeybek , Mehmet Seven, |
| S-08 | Identification Of a Novel Mutation and Regression of Macular Edema with Topical Treatment in Gyrate Atrophy Cemal Çavdarlı, Büşranur Çavdarlı |
| HALL C 17:30 - 18:30 | |
| S-09 | A Very Rare Double Marker Chromosome Case:Phenotypic Variation of 8p Tetrasomy Ömer Faruk Karaçorlu |
| S-10 | Diagnosis of a rare disease with variable phenotype in two patients via "genotype to phenotype" approach: Desbuquois dysplasia 1 Büşranur Çavdarlı |
| S-11 |
Lamm Syndrome; Two New Patients, One Novel Mutation And One New Mechanism
CEREN ALAVANDA, AYBERK TURKYILMAZ, ESRA ARSLAN ATES, BILGEN BILGE GECKINLI, MEHMET ALI SOYLEMEZ, AHMET ARMAN |
| S-12 | Mutations on human Growth Hormone-Releasing Hormone Receptor gene affect GHRH-GHRHR signaling Pathway Ahmet Arman, Merve Saridal, Bumin Dundar, Atilla Buyukgebiz |
| S-13 | Ellis Van Creveld Syndrome: Report of Four New Cases Elif Yilmaz Gulec |
| S-14 | THE USEFULNESS OF WHOLE-EXOME SEQUENCING IN A PATIENT WITH A BROAD CLINICAL SPECTRUM Abdullatif Bakır |
| S-15 | Diagnosing process in a newly described extremely rare disease by whole exome sequencing re-analysis Alper Gezdirici |
| S-16 | A case with multiple dislocations associated Larsen Syndrome; a novel variant of FLNB gene Saide Betul Arslan, Ozlem Acar Dirican , Meltem Cerrah Gunes, Muhammet Ensar Dogan, Huseyin Per, Munis Dundar |
| S-17 | Contribution of microtubule-regulatory proteins to SMA pathomechanisms Gamze Bora, Dila Koyunoğlu, Hayat Erdem-Yurter |
| HALL D 17:30 - 18:30 | |
| S-18 | A CASE WITH RARE COMPOUND HETEROZYGOUS FBN1 GENE MUTATION HANDE OZKALAYCI, ELCIN BORA |
| S-19 | An interstitial 6q25.1 microdeletion syndrome in a patient with dysmorphic features, intellectual dysability and stereotypical movements Sinem Kocagil, Beyhan Durak Aras, Ebru Erzurumluoğlu, Oğuz Çilingir, Sabri Aynacı, Sevilhan Artan, |
| S-20 | Reverse phenotyping revealing rare ADAM22 gene mutation detected by whole exome sequencing in 2 early infantile epileptic encephalopathy siblings. ELİF UZAY, AYÇA AYKUT, ASUDE DURMAZ, TAHİR ATİK, SARENUR GÖKBEN, FERDA ÖZKINAY, ÖZGÜR ÇOĞULU, |
| S-21 | A Rare Case with Warkany Syndrome (Trisomy 8 Mosaicism) Halil ÖZBAŞ, Kuyaş HEKİMLER ÖZTÜRK |
| S-22 | ATN1 gene mutation in patients with Huntington disease-like phenotype Halil Gürhan Karabulut, Mustafa Gökoğlu, Şule Altıner, Ceren Damla Durmaz, Ezgi Gökpınar, Arzu Vicdan, Nüket Yürür Kutlay, Timur Tuncalı, Ajlan Tükün, Hatice Ilgın Ruhi |
| S-23 | TWO NOVEL VARIANTS OF AGL AND GBE1 GENES IN GLYCOGEN STORAGE DISEASE PATIENTS ARDA KEKİLLİ, PELİN TEKE KISA, ALTUĞ KOÇ, ÖZLEM GİRAY BOZKAYA |
| S-24 | Clinical Exome Sequencing Analysis for Diagnosis of Retinitis Pigmentosa and Vision Loss Bülent Uyanık, Sezin Canbek |
| S-25 | A New Approach (EDIZ) for Big Data Variant Prioritization Mehmet Ali Ergün, Sezen Güntekin Ergün, Ferda Emriye Perçin |
| HALL E 17:30 - 18:30 | |
| S-26 | A novel mutation of a rare genetic condition: Primary hypertrophic osteoarthropathy Çiğdem Yüce Kahraman, Zerrin Orbak, Abdulgani Tatar, Ömer Yakar, Neslihan Cinkara, Pelin Ercoşkun |
| S-27 | A rare case of severe microcephaly caused by novel NDE1 variant Hasan Baş, Oğuz Çilingir, Beyhan Durak Aras, Sinem Kocagil, Sevilhan Artan |
| S-28 | Novel LEPR and MC4R gene mutations in two early onset obesity patients Ayça Yıldız, Ceren Yılmaz, Korcan Demir, Altuğ Koç |
| S-29 | Spectrum of Skeletal Abnormalities and Pathogenic RUNX2 Variants in 50 Cleidocranial Patients from Turkey Ezgi Gizem Berkay, Leyla Elkanova, Tuğba Kalaycı, Volkan Karaman, Nilay Güneş, Güven Toksoy, Umut Altunoğlu, Ercan Mıhçı, Elifcan Taşdelen, Zuhal Bayramoğlu, Dilek Uludağ Alkaya, Banu Nur, Kıvanç Cefle, Şükrü Öztürk, Şükrü Palandüz, Beyhan Tüysüz, Z. Oya Uyguner |
| S-30 | Investigation of Genetic Causes in Oculoauriculovertebral Spectrum Naz Guleray Lafci, Can Kosukcu, Sumeyra Oguz, Gizem Urel Demir, Zihni Ekim Taskiran, Pelin Ozlem Simsek Kiper, Gulen Eda Utine, Yasemin Alanay, Koray Boduroglu, Mehmet Alikasifoglu |
| S-31 | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II CASES WITH NOVEL MUTATIONS HAVING CENTRAL NERVOUS SYSTEM EVIDENCE WITH EARLY AND LATE-ONSET Melike Ataseven Kulalı, Özlem Giray Bozkaya |
| S-32 | A de novo novel frameshift variant in the penultimate exon of FBN1 gene cause of rare Marfan lipodystrophy syndrome Muhammet Ensar Doğan, Munis Dündar |
| S-33 | Phenotypic Variability of Pyridoxine-Dependent Epilepsy Esra Usluer, Ayfer Ülgenalp, Derya Erçal |
| HALL F 17:30 - 18:30 | |
| S-34 | Evaluation of the pathogenic variants of BRCA1 / BRCA2 genes in breast cancer patients admitted to Ankara Abdurrahman Yurtaslan Oncology Training and Research Hospital Medical Genetics Department Taha Bahsi |
| S-35 | Analysis of pre-chemotherapy WBC, PLT, monocyte, hemoglobin and MPV levels in acute myeloid leukemia patients with WT1, FLT3 or NPM gene mutations Alparslan Merdin |
| S-36 | IMPORTANCE OF CYTOGENETIC ANALYSIS IN HEMATOLOGICAL MALIGNANCIES: WITH TWO RARE CASES REPORTS Sevgi Işık, Gülçin Günden, Oğuz Çilingir, İbrahim Eker, Hava Üsküdar Teke, Eren Gündüz, Ebru Erzurumluoğlu Gökalp, Sevilhan Artan, Beyhan Durak Aras |
| S-37 | Trisomy 21 as a posttransplantational aberration in patients with AML. Is it a sign of relapse? Dicle İskender |
| S-38 | Experience of a single center in southern Turkey with CALR mutation screening CAGLA RENCUZOGULLARI, GIZEM ICME, BIROL GUVENC, SEVCAN TUG BOZDOGAN |
| S-39 | A CASE OF A VARIANT PHILADELPHIA TRANSLOCATION INVOLVING CHROMOSOMES (7;9;22)(q22;q34;q11) IN CHRONIC MYELOID LEUKEMIA Ayse Gul Bayrak, Aynur Daglar Aday, Ali Ucur, Mustafa Murat Ozbalak, Meliha Nalcaci, Kivanc Cefle, Sukru Ozturk, Sukru Palanduz |
| S-40 | Investigation of the Effect of EGFR on PD-L1 and Related Pathways in Non-Small Cell Lung Cancer Cells Büşra ESER ÇAVDARTEPE, Nadir KOÇAK |
| S-41 | Targeted gene panel sequencing for hereditary Cancers: Diagnostic Efficiency Sehime G. TEMEL, Adem Alemdar, Niyazi Kaya, Lamiya Aliyeva, Ahmet Kablan, Dilek Pirim, Elif Uz, Sebnem Ozemri Sag |
| 19 APRIL 2019 - FRIDAY | |
| HALL B 17:00 - 18:00 | |
| S-42 | Identification of BRCA1/2 Variants via Next Generation Sequencing for Therapeutic Approach Şebnem Özemri Sağ, Niyazi Kaya, Lamiya Aliyeva, Ahmet Kablan, Cemre Örnek, Berkcan Doğan, Dilek Pirim, Elif Uz Yıldırım, Şehime Gülsün Temel, Şehime Gülsün Temel |
| S-43 | Gain of 1q21 locus in a multiple myeloma patient Duygu Arican, Burak Durmaz, Emin Karaca, Murat Tombuloglu |
| S-44 | Microarray Analysis of Recurrent Clivus Chordoma Samples: Potential Targets for Chordoma Treatment Emre Can Tüysüz, Ayşegül Kuşkucu |
| S-45 | DETERMINATION OF ZINC FINGER PROTEIN 384 (ZNF384) GENE FUSIONS IN CHILDHOOD ACUTE LEUKEMIA PATIENTS TUĞÇE SUDUTAN, YÜCEL ERBİLGİN, ÖZDEN HATIRNAZ, ZEYNEP KARAKAŞ, NAZAN SARPER, TİRAJE CELKAN, ÇETİN TİMUR, GÖNÜL AYDOĞAN, MÜGE SAYİTOĞLU, |
| S-46 | Evaluation of BRCA1 p.Tyr179Cys, p.Phe486Leu and p.Asn550His mutations in Turkish Breast Cancer Patients Esra Arslan Ateş |
| S-47 | Next-generation sequencing-based comprehensive molecular analysis of Turkish patients with retinitis pigmentosa Neslihan Teker, Nilnur Eyerci |
| S-48 | |
| S-49 | HETEROGENEOUS ETIOLOGY OF HEARING LOSS-MOLECULAR ANALYSIS Sinem Yalcintepe, Hakan Gurkan |
| HALL C 17:00 - 18:00 | |
| S-50 | A COHORT OF PATIENTS WITH HYPERTROPHIC AND DILATED CARDIOMYOPATHY HAMZA POLAT, AYBERK TÜRKYILMAZ, CEREN ALAVANDA, ESRA ARSLAN ATEŞ, MEHMET ALİ SÖYLEMEZ, BİLGEN BİLGE GEÇKİNLİ, ÖZLEM YILDIRIM, AHMET ARMAN |
| S-51 | Is MTHFR C677T polymorphism risk factor for Turkish Alzheimer Disease’s patients? Gamze Guven, Basar Bilgic |
| S-52 | Evaluation of 22q11.2 anomalies via two pediatric patients Durdugul Ayyıldız Emecen, Bilcay Akgun, Esra Isık, Anıl Kalyoncu, Erhan Parıltay, Emin Karaca, Burak Durmaz, Ozgur Cogulu, Tahir Atik, Farda Ozkınay |
| S-53 | Alterations in Promoter Methylation Pattern of IL-16 and MMP-3 Genes in Rheumatoid Arthritis Z. Betül Çelik, Şengül Tural, A. Kıvanç Cengiz, Nurten Kara, Gamze Alaylı |
| S-54 | High-throughput DNA sequencing-based genomic profiling analysis reveals novel homozygote mutations-phenotype association for severe dilated cardiomyopathy in a Turkish heritage patient. Mahmut Cerkez Ergoren, Nese Akcan, Umit Yuksel, Sebnem Özemri Sag, Sehime Gulsun Temel |
| S-55 | Molecular diagnosis of connective tissue disorders using targeted gene panel screening Ahmet Kablan, Niyazi Kaya, Lamiya Aliyeva, Dilek Pirim, Elif Uz Yıldırım, Şebnem Sağ, Şehime Temel |
| S-56 | The 15q11.2 BP1–BP2 Microdeletion Syndrome with Variable Expressivity Ebru Erzurumluoglu Gokalp, Oguz Cilingir, Beyhan Durak Aras, Sinem Kocagil, Ezgi Susam, Sevilhan Artan |
| S-57 | ALTERNATİVE PERSPECTİVE İN CLINICAL VARIATION OF FMF Senol Citli, Nadir Kocak |
| HALL D 17:00 - 18:00 | |
| S-58 | The effects of human chorionic gonadotropin-based hormonal therapy on the expression levels of proliferating cell nuclear antigen Basak Celtikci, Semih Tangal, Leyla Ozer |
| S-59 | Copy number variation analysis from targeted next generation sequencing panel data Bilçağ Akgün, Semih Aşıkovalı, Hilmi Bolat, Aslı Ece Solmaz, Hüseyin Onay |
| S-60 | Interpreting CFTR Gene Variants Using Machine Learning Algorithms Erhan PARILTAY |
| S-61 | IN SILICO APPROACH FOR ANALYSIS OF SNPs IN THE ABAD/HSD17B10 GENE Ebru ÖZKAN OKTAY, Tuğba KAMAN, Ömer Faruk KARASAKAL, Muhsin KONUK |
| S-62 | Evaluation of the novel variants found incidentally during diagnostic process in terms of N6-methyladenosine (m6A) modification Cagri Gulec |
| S-63 | Genetic evaluation of the CFTR gene and comprehensive analysis of the sequence variants using bioinformatic tools. Ecem Buse Yılmaz, Niyazi Kaya, Lamiya Aliyeva, Ahmet Kablan, Dilek Pirim, Elif Uz Yıldırım, Şebnem Özemri Sağ, Şehime Gülsün Temel |
| S-64 | Diagnostic Efficiency of Multiple Gene Panel in Cardiomyopathy and Hereditary Arrhythmias Adem Alemdar, Niyazi Kaya, Lamiya Aliyeva, Ahmet Kablan, Dilek Pirim, Elif Uz, Şebnem Özemri Sağ, Şehime Gülsün Temel, |
| HALL E 17:00 - 18:00 | |
| S-65 | Emerging concept in liquid biopsy: analyses of different biological samples via next generation sequencing Atil Bisgin, Ozge Sonmezler, Ibrahim Boga, Yasemin Saygideger, Cem Mujde |
| S-66 | Identification of driver gene mutations and microsatellite instability in liquid biopsy samples of colorectal cancer SEVCAN TUG BOZDOGAN, CAGLA RENCUZOGULLARI, CEM MUJDE, ABDULLAH HANTA, AHMET RENCUZOGULLARI, ATIL BISGIN |
| S-67 | ROLE OF MIR-18A AND MIR-584 ON AMPK PATHWAY IN ENDOTHELIAL CELLS AYBİKE SENA OZUYNUK, NESLIHAN COBAN |
| S-68 | The investigation of epigenetic changes in NFATC1 and FOS genes in post-menopausal cases Rasime Kalkan |
| S-69 | Management of chromosome 10q22.3q23.2 deletion syndrome Şule Altıner |
| S-70 | Isotretinoin exposure during pregnancy and teratogenic effects in fetus Mustafa Tarik Alay, Aysel Kalayci Yigin, Ugur Gumus, Mehmet Seven |
| S-71 | Three Patients with Joubert Syndrome and KIF7 gene mutations: Genotype phenotype correlation Engin ALTUNDAG, Aysegul YILMAZ, Ummet ABUR, Aslihan SANRI, Omer Salih AKAR, Gonul OGUR |
| HALL F 17:00 - 18:00 | |
| S-72 | IMPORTANCE OF CLINICAL GENETICIST IN PATIENT'S DATA ANALYSIS WITH SAMPLES ALPER HAN ÇEBİ |
| S-73 | DIFFERENT PRESENTATIONS OF LONG QT SYNDROME Tayfun Çinleti, Altuğ Koç, Ayça Yıldız, Derya Erçal |
| S-74 | An Interesting Translocation Pattern With Phenotypically Normal Family; A Daughter Inherited t(5,18) From The Mother With Two Independent Translocation t(1,2) t(5,18) Duygu Onur Cura, Tufan Cankaya |
| S-75 | EFFECTS OF ETANERCEPT ON CELL PROLIFERATION IN HUVEC CELL LINES ARDA KEBAPCI, EMEL ERGÜL, ARİS CAKİRİS, SEMA SIRMA EKMEKÇİ, NESLİHAN ABACI |
| S-76 | Identification of IFN-beta-1a therapy related biomarkers in T cells of multiple sclerosis patients Hazal GEZMİŞ, Tansu DORAN, Deniz YÜCEL, Saime Füsun MAYDA DOMAÇ, Deniz KIRAÇ, |
| S-77 | Diagnostic Approach in Hydrops Fetalis: Discussion of Three Cases Vehap Topcu |
| S-78 | Prenatal management and pregnancy outcomes in fetuses with cystic hygroma HAVVA SUTCU, NIYAZI CENK SAYIN, IŞIL UZUN, CIHAN INAN, SELEN GURSOY ERZINCAN, CEM YENER, SINAN ATES, EMINE IKBAL ATLI, HAKAN GURKAN, GULUZAR FUSUN VAROL |
| POSTERS | |
| Code | Title |
| P-001 | Investigation of 3p and other chromosome abnormalities in peripheral lymphocytes in adenocarcinoma and small cell lung cancer Narmin Bakhshaliyeva, Ayşe Çırakoğlu, H. Gül Öngen, Esin Bil Tuncay, Yelda Tarkan Argüden |
| P-002 | Mosaic Trisomy 9 Presenting With Congenital Diaphragmatic Hernia And Facial Dysmorphism Menekşe Öztürk, Bülent Demir, Sema Arayıcı, Süreyya Demir, Ozturk Ozdemir, Fatma Sılan |
| P-003 | A PGD outcome of the intronic mutation of the ABCC8 gene linked to congenital hyperinsulinism Hasan Huseyin Kazan, Tolga Ecemiş, Yaman Sağlam |
| P-004 | TWO NOVEL MUTATIONS IN THREE DIFFERENT GENES ASSOCIATED WITH RETINITIS PIGMENTOSA/LEBER CONGENITAL AMAROSIS IN ONE PATIENT Ceren Alavanda, Pınar Ata, Ozlem Yıldırım, Hamza Polat, Bılgen Bılge Geckınlı, Ahmet Arman |
| P-005 | Hypoxia induced HIF1α and NOS3 Expression Profiles in JAK2V617F Positive Cancer Stem Cells of Polycythemia Vera Can Veysel Şoroğlu, Cemil Altunay, İldeniz Uslu Bıçak, Akif Selim Yavuz, Selçuk Sözer Tokdemir |
| P-006 | A novel homozygous frameshift SPTBN2 gene mutation associated with Spinocerebellar Ataxia-14 Demet Gül, Zeynep Doğru, Erdal Fırat Çaralan, Yazgı Yücel, Şiar Dursun, Serhat Seyhan, Akif Ayaz |
| P-007 | CYTOTOXIC T-LYMPHOCYTE ANTIGEN-4 GENE POLYMORPHISM IS NOT ASSOCIATED WITH INCREASED RISK FOR CHRONIC LYMPHOCYTIC LEUKEMIA IN MACEDONIA POPULATION Elena Arangelovic, Marica Pavkovic, Rosica Angelovic, Sanja Trajkova, Slobodanka Terziev - Trpkovska, Irina Panovska - Stavridis, Sonja Genadieva - Stavrik, Aleksandar Stojanovic |
| P-008 | Family Based GWAS for Colorectal Cancer Identifies Five Susceptibility and Twelve Prognosis Related Loci in Turkish Population Sulgun Charyyeva, Ozge Cumaoğulları, Edibe Ece Abacı, Özlem İlk, Ayhan Kuzu, Hilal Özdağ |
| P-009 | Epigenetic Analysis Of BNC1, SCUBE3, SFRP1 and PCDH8 Candidate Tumor Suppressor Genes In Renal Cell Carcinoma Merve Bali, Fahri Akbaş |
| P-010 | Clinical characteristics of 3p26.3p25.3 deletions and 19p13.3 duplication Nüket Yürür-Kutlay, Şule Altıner, Sedar Kasakyan, Burcu Sağlam, Ajlan Tükün |
| P-011 | Comparison of a patient with 9p deletion and 15q duplication to another with 9p duplication and 15q deletion Sümeyra Oğuz, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Ayfer Alikaşifoğlu, Koray Boduroğlu, Mehmet Alikaşifoğlu |
| P-012 | THE PRESENCE OF EZH2 AND EZH2-TARGETED GENES IN EXOSOMES OF DIFFUSE LARGE B-CELL LYMPHOMA PATIENTS İkbal Cansu Barış, Sibel Hacıoğlu, Nilay Şen Türk, Gökhan Ozan Çetin, Sevil Zencir, Gülseren Bağcı, Vildan Caner |
| P-013 | Ten patients with single gene disorders diagnosed by chromosomal microarray Gulsum Kayhan, E. Ferda Percin |
| P-014 | A case of Basal Cell Nevus Syndrome with a new PTCH1 gene mutation: c.592A>T Derya Beyza Sayın Kocakap, Hatice Karaca, Leyla Özer, Eser Bolat, Umut Tekin |
| P-015 | A new patient with dual diagnosis: not as rare as assumed Abdullah Sezer, Elvin Kazancıoğlu, Gülsüm Kayhan, Canan Türkyılmaz, E. Ferda Perçin |
| P-016 | GENETIC ASPECTS OF PREDICTIVE MEDICINE Sevdalina Todorova, Borislav Popov, Veselina Petrova- Tacheva |
| P-017 | Molecular Genetic Results of Patients with Parkinson Disease from Turkey Fatih Tepgeç, Haşmet Hanağası, Güven Toksoy, İnci Şahin, Başar Bilgiç, Aslı Demirtaş-Tatlıdede, Zeynep Tüfekçioğlu, Seher Başaran, İbrahim Hakan Gürvit, Zehra Oya Uyguner |
| P-018 | Compound Heterozygous Mutation in MYO5B Gene Causing Microvillus Inclusion Disease: A Case Report İbrahim Kaplan, Elifcan Taşdelen, Halil Gürhan Karabulut |
| P-019 | Is this a fetus with monosomy X or with a de novo chromosomal rearrangement? An unusual phenomenon due the cytotrophoblastic and the mesenchymal tissues. Meral Yirmibeş Karaoğuz, Gülsüm Kayhan, Deniz Karcaaltıncaba |
| P-020 | Expanding the Phenotypic and Genetic Spectrum of RUSAT-2: Definition of A Novel Mutation in the MECOM Gene Emine İpek Ceylan, Ayça Aykut, Asude Durmaz, Funda Tüzün, Özlem Tüfekçi |
| P-021 | An Inherited Novel FGFR2 Variant: A Case Report Omer Yakar, Cigdem Yuce Kahraman, Pelin Ercoskun, Neslihan Cınkara, Abdulgani Tatar |
| P-022 | Mitochondrial DNA analysis in a patient with complex neurological symptoms Aydeniz Aydın Gümüş, Dilek Gün Bilgiç, Sırrı Çam |
| P-023 | A rare case report of SMARD1 (SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1) syndrome. Lamiya Alıyeva, Ahmet Kablan, Rabia Tutuncu Toker, Mehmet Sait Okan, Şebnem Özemri Sağ, Şehime G Temel |
| P-024 | Investigation of the polymorphisms rs1800012 in collagen type I alpha 1 (COL1A1) in cyclists Beste Tacal Aslan, Başak Funda Eken, Canan Sercan, Tuğba Kaman, Korkut Ulucan |
| P-025 | DETECTION OF FUSION ABL-BCR GENE IN PEDIATRIC PATIENTS WITH LEUKEMIA Liljana Tasevska-Rmus, Rosica Rosica Angelkovik, Vesna Vankovska |
| P-026 | MOLECULAR DETECTION OF HERPES SIMPLEX VIRUS TYPE 1, HERPES SIMPLEX VIRUS TYPE 2, CYTOMEGALOVIRUS AND EPSTEIN-BARR VIRUS IN SUBGINGIVAL DENTAL PLAQUE IN PATIENTS WITH PERIODONTAL DISEASE Marija Ivanovska- Stojanoska, Mirjana Popovska, Violeta Anastasovska, Mirjana Kocova, Lindita Zendeli Bedjeti, Aneta Atanasovska-Stojanovska, Sashka Todorovska |
| P-027 | Potential diagnostic value of circulating miR-1183 and its target gene in early-onset preeclampsia Didem Altindirek, Tuba Gunel, Ali Benian, Kilic Aydinli |
| P-028 | Coronal Synostosis Syndrome (Muenke Syndrome) Neslihan Cinkara, Çiğdem Yüce Kahraman, Pelin Ercoşkun, Ömer Yakar, Abdulgani Tatar |
| P-029 | Two siblings with Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, IMNEPD: a case report Mustafa Hakan Demirbaş, Abdullah Sezer, Kıvılcım Gücüyener, Emriye Ferda Perçin |
| P-030 | Genetic analysis of two Turkish patients with Brugada Syndrome Evrim Komurcu-Bayrak, Mehmet Rasih Sonsoz, Merve Kumrular, Ahmet Kaya Bilge |
| P-031 | A PGD outcome of the PSD3 gene mutation putatively linked to APS Gamze Bilgili, Şahin Zeteroğlu, Mehmet Ali Ergün |
| P-032 | FREQUENCY OF DETECTED GENOTYPES IN PATIENTS WITH SALT-WASTING FORM OF 21-HYDROXYLASE DEFICIENCY Mirjana Kocova, Violeta Anastasovska |
| P-033 | Familial Mediterranean Fever Severity in Patients with Complex Genotypes Ayşe Gül Zamani, Ahmet Burak Arslan, Mahmut Selman Yıldırım |
| P-034 | TRANSITIONAL p.Arg802His POINT MUTATION IN A2ML1 GENE IN TWO SISTERS OF NOONAN-LIKE SYNDROME WITH VARIOUS CLINICAL FINDINGS Menekşe Öztürk, Burcu Albuz, Öztürk Özdemir, Fatma Sılan |
| P-035 | Von Hippel Lindau Patients Ceren Alavanda, Esra Arslan Ates, Ayberk Turkyılmaz, Hamza Polat, Bılgen Bılge Geckınlı, Pınar Ata, Mehmet Alı Soylemez, Ahmet Ilter Guney, Ahmet Arman |
| P-036 | Marfan Syndrome: Genotype-Phenotype Correlations Bılgen Bılge Geckınlı, Esra Arslan Ates, Ayberk Turkyılmaz, Ceren Alavanda, Ozlem Yıldırım, Mehmet Alı Soylemez, Ahmet Arman |
| P-037 | Conventional Cytogenetics Results of 355 Multipl Myeloma Cases Şükriye Yılmaz, Başak Aslaneli Çakmak, Dilhan Kuru, Ayşe Çırakoğlu , Yelda Tarkan Argüden, Şeniz Öngören Aydın, Ayhan Deviren |
| P-038 | Unexpected WES result of a fetal MCD case; the complexity of prenatal management Tugba Kalayci, Atıl Yuksel, Birsen Karaman, Z. Oya Uyguner, Rachel Schot, Seher Basaran, Umut Altunoglu |
| P-039 | Assessment of Rhesus D and Sex-specific Genotyping with cell free Fetal DNA from Maternal Blood Büşra Yaşa, Selçuk Sözer Tokdemir, Orhan Şahin |
| P-040 | |
| P-041 | BCL11B gene may be a candidate gene for mastocytosis in a patient with partial trisomy of distal 14q Burcu Albuz, Fatma Sılan, Menekşe Öztürk, Onur Yıldız, Öztürk Özdemir |
| P-042 | De novo nbalanced translocation resulting in 6q26-qter monosomy and 12q24 partial trisomy Ayşe Gürel, Süleyman Atar, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Mehmet Alikaşifoğlu |
| P-043 | A Novel Candidate Frameshift Mutation For Leigh Syndrome Zeynep Doğru, Demet Gül, Erdal Fırat Çaralan, Hakan Cangül, Serhat Seyhan, Akif Ayaz |
| P-044 | A Novel Truncating Mutation in LIG4 Gene Ezgi Gökpınar İli, Hatice Ilgın Ruhi |
| P-045 | A Case of CHARGE Syndrome Diagnosed with Antenatal Left Ventricular Minority and Syndromic Appearance Kuyaş Hekimler Öztürk, Halil Özbaş |
| P-046 | The importance of extended genomic analysis in the differential diagnosis of patients with pediatric lung diseases and discovery of novel disease-causing genetic variants and genes Marina Andjelkovic, Misa Vreca, Vesna Spasovski, Predrag Minic, Aleksandar Sovtic, Anita Skakic, Maja Stojiljkovic, Jovana Komazec, Sonja Pavlovic |
| P-047 | The Frequency and Clinical Findings of IDH mutations in Acute Myeloid Leukemia Patients Mehmet Baysal, Ufuk Demirci, Elif Ümit, Hakkı Onur Kırkızlar, Hakan Gürkan, Ebru Göncü, Sedanur Karaman Gülsaran, Volkan Baş, Hilmi Tozkır, Ahmet Muzaffer Demir |
| P-048 | A novel HPSE2 gene mutation associated with Ochoa Syndrome Hande Nur Cesur Baltacı, Elifcan Taşdelen, Vehap Topçu, Halil Gürhan Karabulut |
| P-049 | RSPO4-related nonsyndromic congenital nail disorder: Anonychia congenita Hatice Mutlu Albayrak |
| P-050 | A novel frameshift mutation in the KAL1 gene in Kallmann syndrome: A case report Ugur Gumus, Aysel Kalayci Yigin, Mustafa Tarik Alay, Mehmet Seven |
| P-051 | A novel missense variant in the homogentisate 1,2-dioxygenase (HGD) gene in a patient with clinical symptoms of alkaptonuria. Ulviyya Kazimli, Muhammet Ensar Dogan, Kubra Baysal , Yusuf Ozkul, Soner Senel, Munis Dundar |
| P-052 | Genotoxic effects of new organoruthenium complexes measured by the comet assay in lymphocytes Sengul Yuksel, Huseyin Sahin, Merve Benzer, Yakup Sari |
| P-053 | Application of Multiplex PCR Method For Genetic Diagnosis of FHL Disease by Using HCC1143 BL and NCI-BL 1184 Cell Lines Berna Akca, Oguzhan Kalyon, Nur Sena Uluskan, Hanifi Aktas, Emre Tepeli, Ahmet Uludag, Muhammed Hamza Muslumanoglu |
| P-054 | Interstitial microdeletion of 17q22 in a patient with de novo apparently balanced t(1;17) Elifcan Taşdelen, Ceren Damla Durmaz, Şule Altıner, Hatice Ilgın Ruhi |
| P-055 | Investigation of the PTEN Gene in the Bronchial Lavage of Non-Small Cell Lung Cancer Patients with Fluorescent Insitu Hybridization” Hilal Sahin, Matem Tuncdemir, Ayhan Deviren, Salih Serdar Erturan |
| P-056 | Clinical characteristics, identification and in silico analysis of a de novo SLC6A1 gene mutation in Myoclonic-atonic epilepsy phenotype Eda Becer, Rasime Kalkan |
| P-057 | NOVEL MUTATIONS OF CHD7 GENE IN TURKISH PATIENTS WITH CHARGE SYNDROME Ceren Yılmaz, Ayfer Ulgenalp, Özlem Giray Bozkaya |
| P-058 | DETERMINATION OF MONOSOMY 7 IN ANEMIA APLASTICA USING FLUORESCENCE IN SITU HYBRIDIZATION Gordana Ilieva, Elena Sukarova-Angelovska , Violeta Anastasovska, Svetlana Koceva |
| P-059 | Evolution of chromosomal aberrations in patients with bladder cancer: from blood to bladder tumors Olga Antonova, Simeon Rangelov, Zora Hammoudeh, Desislava Nesheva, Dragomora Nikolova, Savina Hadjidekova , Lubomir Balabanski, Radost Vazharova, Chavdar Slavov, Draga Toncheva |
| P-060 | Chromosomal abnormalities in couples that undergo assisted reproduction technologies Elena Sukarova-Angelovska, Grdana Ilieva, Violeta Anastasovska, Tanja Hristova-Dimkovska, Dragica Nestoroska |
| P-061 | Association of vitamin D level and CYP27B1 gene polymorphism with multiple sclerosis in Türkish Population Muhsins Elmas |
| P-062 | Mechanism of formation a small supernumerary marker chromosome derived from chromosome 8: Constitutional chromothripsis Şule Altıner, Nüket Yürür Kutlay , Hatice Ilgın Ruhi |
| P-063 | Two SMA families with 2+0 carrier status Nadide Cemre Randa, Özgür Erkal, Tarkan Kalkan |
| P-064 | Reciprocal Translocation 46, XX, t(1; 5) (p13.1; pter)) in Infertile Female Duygu Yolal Ertural, Nazan Eras, Eren Demir, Ayşegül Çetinkaya, Etem Akbaş |
| P-065 | Protective effect of Plantago lanceolata L. extract and luteolin against genotoxic damage induced by H2O2 in human lymphocytes Sengul Yuksel, Merve Benzer |
| P-066 | A NOVEL MUTATION IN THE TRANSGLUTAMINASE-1 GENE IN A LAMELLAR ICHTYOSIS PATIENT Hande Kulak, Mikail Demir, Ayşegül Özcan, Huri Sema Aymelek |
| P-067 | FCGR2A AND FCGR3A POLYMORPHISMS AND RESPONSE TO RITUXIMAB TREATMENT IN PATIENTS WITH B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Rosica Angelovic, Marica Pavkovic, Irina Panovska-Stavridis, Elena Arangelovic, Sanja Trajkova, Lazar Cadievski, Aleksandar Stojanovic |
| P-068 | Effect of the cryopreservation on the viability of Sertoli cells O.Sena Aydos, Yunus Yukselten, Meltem Erdogan, Sınan Ozkavukcu, Asuman Sunguroglu, Kaan Aydos |
| P-069 | THE RARE ABNORMALITIES OF CHROMOSOME 1 IN MYELOID MALIGNANCIES Gulcin Gunden, Sevgi Isik, Oguz Cilingir, Nur Oguz Davutoglu, Filiz Yavasoglu, İbrahim Eker, Eren Gunduz , Ebru Erzurumluoglu Gokalp, Sevilhan Artan, Beyhan Durak Aras |
| P-070 | Novel MID1 mutation in a patient with X-linked Opitz G/BBB syndrome Engin Atlı, Hakan Gürkan, Emine İkbal Atlı, Selma Demir, Sinem Yalçıntepe, Damla Eker, Yasemin Özen, Hilmi Tozkır |
| P-071 | DETECTED GENOTYPES IN MACEDONIAN PATIENTS WITH SIMPLE VIRILIZING FORM OF CONGENITAL ADRENAL HYPERPLASIA Violeta Anastasovska, Mirjana Kocova, Elena Sukarova-Angelovska, Nikolina Zdraveska, Gordana Ilieva |
| P-072 | A RARE HETEROCHROMATIN POLYMORPHISM OF CHROMOSOME 6 ASSOCIATED WITH RECURRENT MISSCARRIAGE: A CASE REPORT Burcu Albuz, Fatma Sılan, Menekse Ozturk, Taner Karakaya, Ozturk Ozdemır |
| P-073 | A case of mosaic idic(Yq) with another cell line with two idic(Yq) Mahmut Selman Yıldırım, Levent Simsek, Mehmet Emre Atabek, Ayse Gul Zamani |
| P-074 | INVESTIGATION OF HIF3A AND IL-6 GENES PROMOTER DNA METHYLATION CHANGES IN CHILDHOOD OBESITY Esra Tekcan, Nurten Kara, Hasan Murat Aydın, Mehmet Elbistan |
| P-075 | A Case of Klinefelter Syndrome with Immunodeficiency Mahmut Selman Yıldırım, Makbule Nihan Somuncu, İsmail Reisli, Ayşe Gül Zamani |
| P-076 | WHOLE EXOME SEQUENCE ANALYSES IN A CONSANGUINEOUS FAMILY WITH AFFECTED DIZYGOTIC TWINS REVEAL A NOVEL SEPN1 VARIANT ASSOCIATED WITH MULTIMINICORE DISEASE Fatma Sarı Tunel, Feyza Nur Tuncer, Ayşe Evrim Kömürcü-Bayrak, Seda Salman Yılmaz, Piraye Oflazer, Burçak Vural |
| P-077 | The Unbalanced 1;15 Translocation in the Neonate With Jejunal and İleal Atresia. Familial 1;15 Translocation. Badel Arslan, Nazan Eras, Etem Akbas |
| P-078 | A Family with MECP2 Duplication Syndrome Tulin Cora, Busra E. Cavdartepe, Fahrettin Duymus, Ayse Kartal, Nadir Kocak |
| P-079 | Cystic fibrosis mutational spectrum in North Macedonia: a step towards personalized therapy Marija Terzikj, Milena Jakimovska, Stojka Fustik, Tatjana Jakovska, Emilija Sukarova-Stefanovska, Dijana Plaseska-Karanfilska |
| P-080 | A Challenging Diagnosis: Poikiloderma with Neutropenia Erdem Kındış, Sibel Ersoy Evans, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Koray Boduroğlu, Mehmet Alikaşifoğlu |
| P-081 | GENE POLYMORPHISMS OF DNA METHYLTRANSFERASES IN WOMEN WITH SPONTANEOUS PRETERM BIRTH Anita Barišic, Maja Kolak, Ana Peterlin, Nataša Tul, Milena Gašparovic Krpina, Saša Ostojic, Borut Peterlin, Nina Pereza |
| P-082 | Investigation of interchromosomal effect in male carrier with structural chromosomal abnormality by using FISH technique Özgür Balasar, Barış Balasar, Hasan Acar |
| P-083 | Mosaic trisomy 8: Comparison of clinical findings in prenatal and postnatal cases Gülnihal Bulut, Birsen Karaman, Umut Altunoğlu, Nuray Kırmızı, Seher Başaran |
| P-085 | SIX NOVEL F8 GENE PATHOGENIC VARIANTS AS A CAUSE OF HEMOPHILIA A IN REPUBLIC OF NORTH MACEDONIA Emilija Shukarova Stefanovska, Gjorgji Bozhinovski, Zorica Trajkova-Antevska, Violeta Dejanova-Ilijevska, Dijana Plaseska-Karanfilska |
| P-086 | Frequency of JAK2 V617F mutation in patients with myelofibrosis Dragomira Nikolova, Vera Damyanova, Alexandar Yordanov, Atanas Radinov, Draga Toncheva |
| P-087 | Molecular monitoring and BCR-ABL Gene Mutations in Imatinib Resistant CML Patients in Our Centre Marica Pavkovic, Dijana Plashevska-Karanfilska , Rosica Angelovic , Elena Arangelovic , Sonja Genadieva-Stavric, Irina Panovska-Stavridis, Lidija Cevreska , Aleksandar Stojanovic |
| P-088 | Long noncoding RNA GAS5 as a novel pharmacotranscriptomic marker in glucocorticoid treatment of pediatric acute lymphoblastic leukemia Vladimir Gašic, Nikola Kotur, Biljana Stankovic, Bojan Ristivojevic, Dragana Janic, Lidija Dokmanovic, Jelena Lazic, Branka Zukic, Sonja Pavlovic |
| P-089 | Determining and Classification of Genetics Variants Associated with Juvenile Arrythmia Erdal Fırat Çaralan, Nilgün Genç, Hakan Cangül, Volkan Tuzcu, Türkan Yiğitbaşı |
| P-090 | |
| P-091 | Clinical Spectrum of Mitochondrial Diseases Asuman Gedikbasi, Güven Toksoy, Mehmet Cihan Balcı, Dilek Güneş, Leyli Korkmaz, Gülden F. Gökçay, Birsen Karaman, Seher Başaran, Z.Oya Uyguner |
| P-092 | Predictive medicine and ethical norms Sevdalina Todorova, Borislav Popov, Veselina Petrova- Tacheva |
| P-093 | A PATIENT WITH FRA16(q22) AND INTERESTING FAMILY HISTORY Ayşe Gül Zamani, Kübra Metli, Hüseyin Görkemli, Mahmut Selman Yıldırım |
| P-094 | Chromosomal microarray analysis in diagnosis of patients with congenital abnormalities, developmental delay, intellectual disability, autism: a one year retrospective analysis Leyla Özer, Merve Aydın, Suleyman Aktuna, Evrim Unsal, Volkan Baltacı |
| P-095 | A Novel Mutation in the PRKRA gene Causes DYT16 in a Turkish Family Ceren Damla Durmaz, Adife Ercan Şençiçek, Murat Günel , Kaya Bilguvar,Elif Akçay, Sefa Murat Şahin, Birim Günay Kılıç, Nüket Yürür Kutlay |
| P-096 | Novel FGFR2 variant in a Case with Crouzon Syndrome Volkan Karaman, Tuğba Kalaycı, Seher Başaran, Edibe Pembegül Yıldız, Umut Altunoğlu, Zehra Oya Uyguner |
| P-097 | Acute Pancreatitis Severity Related With Macrophage Migration Inhibitory Factor Gene - 173 G/C Polymorphism and Serum MIF Level Mehmet Ali Uzun, Burçin Erkal, Pınar Ata, Tunay Dogan, Sema Berk Ocak, Sevcan Alkan Kayaoğlu, Metin Tilki, İpek Yılmaz, Ebru Arslan |
| P-098 | Whole Exome Sequencing Identifies Novel Compound Heterozygous Mutations in CC2D1A Gene in a Turkish Family with Autosomal Recessive Non‐Syndromic Mental Retardation Fahrettin Duymus, Ayse Kartal, Nadir Kocak, Tülün Cora |
| P-099 | Partial Chromosome 2q Duplication in Two Siblings with Intellectual Disability and Dysmorphism Mustafa Gökoğlu, Nüket Yürür Kutlay Yürür Kutlay, Şule Altıner |
| P-100 | A CASE OF NEONATAL MARFAN SYNDROME WITH FBN1 GENE MUTATION Aslıhan Sanrı, Hatıce Mutlu Albayrak, Ummet Abur, Omer Salıh Akar, Aysegul Yılmaz, Gonul Ogur |
| P-101 | Genotype phenotype correlation of 3 siblings with myotonic dystrophy type 1 Serap Tutgun Onrat, Muhsin Elmas |
| P-102 | Unusual presentation of Muir-Torre syndrome - A case report Rubens Jovanovic, Aleksandar Eftimov, Slavica Kostadinova-Kunovska, Magdalena Bogdanovska-Todorovska |
| P-103 | Satellite region of chromosome 14 is oriented to the opposite side due to the pericentric inversion of the nearly entire chromosome Meral Yirmibes Karaoguz, Hilal Esmanur Yildiz, Esra Tug |
| P-104 | Mutational spectrum of TSC1/TSC2 genes among patients with tuberous sclerosis complex in Republic of North Macedonia Gjorgji Bozhinovski, Emilija Sukarova Stefanovska, Vesna Sabolic-Avramovska, Natalija Angelkova, Filip Duma, Dijana Plaseska-Karanfilska |
| P-105 | Chromosomal Abnormalities Related to Congenital Diaphragmatic Hernia Somayyeh Heidargholizadeh, Birsen Karaman, Gülnihal Bulut, Umut Altunoğlu, Atıl Yüksel, Seher Başaran |
| P-106 | A case with deletion of 2q31.1 contributes in refining the genotype-phenotype correlation Arda Çetinkaya, Ali Karaman, Kanay Yararbaş |