Bilimsel Program

21 Şubat 2019, Perşembe

08:30 - 09:00 Açılış Töreni
09:00 - 10:30 Oturum Başkanları: Munis Dündar, Cihangir Özkınay
09:00 - 09:30 Genom düzenleme yöntemleri Ferda Özkınay
09:30 - 10:00 Ribozomopatiler Nurten Akarsu
10:00 - 10:30 Cf DNA test uygulamaları Seher Başaran
10:30 - 11:00 Kahve Molası
11:00 - 12:30 Oturum Başkanları: Mehmet Ali Ergün, Gökay Bozkurt, Yusuf Özkul
11:00 - 11:30 Kalıtsal ve sendromik lösemiler Uğur Özbek
11:30 - 12:00 Hematolojik malignitelerde moleküler sitogenetik belirteçler Burak Durmaz
12:00 - 12:30 Meme kanserlerinde güncel yaklaşımlar Haluk Akın
12:30 - 13:30 Öğle Yemeği
13:00 - 13:30 Poster Saati
Oturum Başkanları: Abdulgani Tatar, Öztürk Özdemir
13:30 - 15:30 Oturum Başkanları: Sevilhan Artan, Ayfer Ülgenalp, Tülin Çora
13:30 - 14:00 Fonksiyonel genomiksin tıbbi genetikteki önemi Çağrı Güleç
14:00 - 14:30 Nefrotik sendromda genetik Güven Toksoy
14:30 - 15:00 Prenatal büyümede etkili epigenetik faktörler Asude Durmaz
15:00 - 15:30 Dissecting the Molecular Mechanisms of Complex Diseases Through a Pathway and Network Oriented Integrative Analysis of -omics Data Burcu Bakır Güngör
15:30 - 16:00 Kahve Molası
16:00 - 17:30

Oturum Başkanları: Beyhan Durak Aras, Hakan Cangül, Hakan Akça

Sözlü Sunumlar - 1

17:30 - 19:30

Oturum Başkanları: Selahattin Tekeş, Naci Çine, Sırrı Çam

Sözlü Sunumlar - 2

22 Şubat 2019, Cuma

08:30 - 10:30 Oturum Başkanları: Dilek Aktaş, Ercan Mıhçı
08:30 - 09:00 Dismorfik hastaya yaklaşım Eda Utine
09:00 - 09:30 Dismorfik bulgu veren metabolik hastalıklar Özgür Çoğulu
10:00 - 10:30 Aminoasit biyosentez bozuklukları Ali Dursun
10:30 - 11:00 Kahve Molası
11:00 - 12:30 Oturum Başkanları: İlter Güney, Yaman Sağlam, Ayça Aykut
11:00 - 11:30 Özelleştirilmiş tıp Feride Şahin
11:30 - 12:00 Zerrin Yılmaz Çelik
12:00 - 12:30 Yunus Kasım Terzi
12:30 - 13:30 Öğle Yemeği
13:00 - 13:30 Poster Saati
Oturum Başkanları: Öztürk Özdemir, Abdulgani Tatar
13:30 - 15:30 Oturum Başkanları: Emin Karaca, Cengiz Yakıcıer
13:30 - 14:00 Fenotipik çelişkiler: Dual etki Ferda Perçin
14:00 - 14:30 Epidermolizis bülloza: Tipleri ve genetiği Nur Semerci
14:30 - 15:00 Göz ve genetik Derya Erçal
15:00 - 15:30 Epilepsi genetiği: Klinik ve moleküler tanıda algoritmalar Büşranur Çavdarlı
15:30 - 16:00 Kahve Molası
16:00 - 17:30

Oturum Başkanları: Atıl Bişgin, Sacide Pehlivan, Muhammet E. Doğan

Sözlü Sunumlar - 3

17:30 - 19:30

Oturum Başkanları: Hüseyin Yüce, S. Handan Yıldız, Ekrem Ünal

Sözlü Sunumlar - 4

23 Şubat 2019, Cumartesi

08:00 - 10:30 Oturum Başkanları: Abdurrahman Oğuzhan, Nejat İmirzalıoğlu, Mehmet Seven
08:00 - 08:30 Otoinflamatuar hastalıklar Ahmet Dursun
08:30 - 09:00 Kardiyovasküler hastalıklara genetik yaklaşım Hakan Gürkan
09:00 - 09:30 Bağ dokusunun genetik hastalıkları ve eşlik eden kardiyak patolojiler Şehime Gülsün Temel
09:30 - 10:00 Clinical and molecular findings in patients with arterial tortuosity syndrome Aude Beyens
10:00 - 10:30 A clinical flowchart to classify cutis laxa patients, supported by electron microscopy and pathophysiology Bert Callewaert
10:30 - 11:00 Kahve Molası
11:00 - 12:30 Oturum Başkanları: Haydar Bağış, Murat Gültekin, Çetin Saatçi
Huntington hastalığında güncel gelişmeler Ayşe Çağlar Sarılar
Huntington hastalığı; hasta ve aile Hatice Ilgın Ruhi
Huntington hastalığında prediktif test yaklaşımı Halil Gürhan Karabulut
Huntington hastalığında psikiyatrik ve davranışsal semptomlar ve tedavisi Ertuğrul Eşel
Brain volume differences in Huntington dissease using MRI Niyazi Acer
12:30 - 13:30 Öğle Yemeği
13:00 - 13:30 Poster Saati
Oturum Başkanları: Mahmut Çerkez Ergören, Oğuz Çilingir
13:30 - 14:30 Oturum Başkanları: Hüseyin Per, Volkan Baltacı
13:30 - 14:00 Otozomal Resesif Primer Mikrosefalilere yaklaşım Okay Çağlayan
14:00 - 14:30 İşitme kaybının genetiği Aslı Subaşıoğlu
14:30 - 18:00

Oturum Başkanları: Muammer Özgür Çevik, Kerem Teralı, Zuhal Altıntaş

14:30 - 16:00

Sözlü Sunumlar - 5

16:00 - 16:30 Kahve Molası
16:30 - 18:00

Sözlü Sunumlar - 6

18:00 Ödül Töreni ve Kapanış

Sözel Sunumlar

Sözel Sunumlar - 1
Oturum Başkanları: Beyhan Durak Aras, Hakan Cangül, Hakan Akça
21 Şubat 2019, Perşembe | 16:00 - 17:30
SS-21-001 0102 A novel mutation, 8414dupT, on BRCA2 gene of two siblings
Aydın Demiray
SS-21-002 0005 Does BRCA gene mutation affect comorbidity in patients with breast cancer?
Ulaş Serkan Topaloğlu
SS-21-003 0017 The effects of nobiletin through TLR9 signaling pathway in prostate cancer
Asuman Deveci Özkan
SS-21-004 0019 Cornelia de lange syndrome with a novel NIPBL mutation and a 10q11.22-q11.23 deletion
Özden Öztürk
SS-21-005 0025 The Role Of Angiogenesis Related Rheb, HIF-1 alpha, CA9 and TSP-1 Genes In Kidney Cancer
Hülya Tığlı
SS-21-006 0050 The Role of Septin 9 (SEPT9) Gene DNA Methylation on Bladder Cancer
Nuray Varol
SS-21-007 0069 Our experience in BRCA-associated hereditary breast and ovarian cancer syndrome
Burcu Dündar
SS-21-008 0096 Targeted gene panel sequencing for hereditary kidney diseases: Efficiently detects candidate pathogenic variants related with these disorders
Niyazi Kaya
SS-21-009 0098 Combination treatment of usnıc acıd and sorafenıb on hepatocellular carcınoma
Beste Yurdacan
SS-21-010 0077 The role of NGS method in the diagnosis of periodic fever syndrome
Abdullah Hüseyin Köseoğlu
SS-21-011 0057 A case of early onset breast cancer with pathogenic variation in {STK11} gene
Zülal Keleş
SS-21-012 0016 Zoledronic acid effectiveness and estrogen receptor status
Gamze Guney Eskiler



Sözel Sunumlar - 2
Oturum Başkanları: Selahattin Tekeş, Naci Çine, Sırrı Çam
21 Şubat 2019, Perşembe | 17:30 - 19:30
SS-21-013 0047 Chrysin, a natural flavonoid found in apple peel, induces mitochondrial reactive oxygen species with accompanying apoptosis in colon cancer cells
Muammer Özgür Çevik
SS-21-014 0059 DNAJC10 (ERDJ5) is a novel biomarker candidate in breast cancer
Tolga Acun
SS-21-015 0027 Retrospective evaluation of pathogenic copy number variations detected via chromosomal microarray analysis
Ahmet Cevdet Ceylan
SS-21-016 0061 Investigation of cfDNA in Volatile Condensate
Altuğ Koç
SS-21-017 0066 Molecular findings in prenatal array karyotyping: clues and implications for reporting
Kanay Yararbas
SS-21-018 0070 Testing for genetic causes of infertility: NGS based infertility panels
Leyla Özer
SS-21-019 0060 The effects of human chorionic gonadotropin-based hormonal therapy on the expression levels of proliferating cell nuclear antigen
Başak Çeltikçi
SS-21-020 0117 A patient with a balanced inversion of chromosome 11 and unbalanced inversion of chromosome 2
Ezgi Susam
SS-21-021 0030 Autism and Genetic Testing
Şule Altıner
SS-21-022 0149 A primary ovarian failure case with de novo t(X;10) translocation
Gizem Kök
SS-21-023 0155 Role of whole exome sequencing in diagnostic approach of neuroferritinopathies: A new family with C19Orf12 gene deficiency
Ayca Aykut
SS-21-024 0156 The utility of reverse phenotyping with Whole-Exome Sequencing in an undiagnosed infant with neurological symptoms
Durdugül Ayyıldız Emecen
SS-21-025 0112 Whole and Clinical Exome Sequencing Analysis for Diagnosis of Epidermolysis Bullosa
Sezin Canbek
SS-21-026 0129 Do functional variants of MIF and MBL genes influence outcome in patients underwent autologous stem cell transplantation for multiple myeloma ?
Sacide Pehlivan
SS-21-027 0142 Next-generation sequencing-based comprehensive molecular analysis of Turkish patients with retinitis pigmentosa
Neslihan Teker



Sözel Sunumlar - 3
Oturum Başkanları: Atıl Bişgin, Sacide Pehlivan, Muhammet E. Doğan
22 Şubat 2019, Cuma | 16:00 - 17:30
SS-22-001 0072 The First Turkish Patient with Pierpont syndrome and TBL1XR1 mutation
Filiz Hazan
SS-22-002 0071 A case with a rare genetic syndrome: Marshall Smith syndrome
Semra Gürsoy
SS-22-003 0074 A case of complex mosaic Turner: cytogenetic/ array comparative genomic hypridisation (aCGH) discrepancy
Pinar Tulay
SS-22-004 0118 De novo t(X;5) in a patient with premature ovarian failure and recurrent vertebrae fractures
Sabri Aynacı
SS-22-005 0131 Molecular Pathological Evaluation of Alport Syndrome
Neslihan Başgöz
SS-22-006 0054 Osteogenesis imperfecta type I caused by a novel mutation of the COL1A1 gene in Turkish family
Arda Kekilli
SS-22-007 0082 A case with a de novo heterozygote ACTG1 variant: Genotype-phenotype correlation
Ahmet Kablan
SS-22-008 0075 The interaction beween DNA methylation and body mass index in post-menopausal cases
Rasime Kalkan
SS-22-009 0041 Clinical and molecular findings of neurofibromatosis type 1: identification of three novel mutations of the NF1 gene
Huri Sema Aymelek
SS-22-010 0049 A novel mutation in HECW2 gene resulting neurodevelopmental disorder with hypotonia, seizures, and absent language
Mustafa Hakan Demirbaş
SS-22-011 0055 A Rare HNF1A Gene Mutation in a Turkish Family with Maturity-Onset Diabetes of the Young (MODY)
Asef Moballegh
SS-22-012 0056 Glutaric aciduria type 2: a case report
Ayça Yıldız
SS-22-013 0038 Genetic Fitness: True Story
Mahmut Cerkez Ergoren
SS-22-014 0084 Fifteen year story of a balanced translocation t(2;7)(p21;p15): Unraveling the phenotype of Saethre-Chotzen/Robinow-Sarouf syndrome or still undiagnosed skeletal dysplasia after next generation sequencing?
Şehime Gülsün Temel



Sözel Sunumlar - 4
Oturum Başkanları: Hüseyin Yüce, S. Handan Yıldız, Ekrem Ünal
22 Şubat 2019, Cuma | 17:30 - 19:30
SS-22-015 0026 CHST3-related multiple dislocations and severe short stature in 3 families
Mehmet Bugrahan Duz
SS-22-016 0036 Characterization of a novel frameshift mutation in the TRPS1 gene as a cause of Trichorhinophalengeal syndrome type 1 in a Cypriot Heritage Family
Meryem Betmezoglu
SS-22-017 0035 Rare and Extremely Unusual Presentation of Glutaric Aciduria Type I in a 35-Year-Old Woman
Gulten Tuncel
SS-22-018 0068 Detection of Duchenne Muscular Dystrophy carriers with quantitative fluorescent polymerase chain reaction
Ayşegül Kuşkucu
SS-22-019 0078 Comparison Of Expression Levels Of {PER1}, {PER2} And {PER3} Genes At Insomnia Diagnosed Individuals And Night Shift Working Health Care Personnel
Rabia Emekli
SS-22-020 0022 The role of a rare variant in Canavan disease: an in silico follow-up
Umut Fahrioğlu
SS-22-021 0152 Homozygous terminal deletion on 4q35.2 in a child with developmental disability and healthy parents with heterozygous deletion in the same region
Tuğba Karaman Mercan
SS-22-022 0127 Is it 21pstk? A case of a hidden trisomy 20p arisen from the balanced translocations
Ömer Salih Akar
SS-22-023 0130 A case with 5q microdeletion: Features overlaps with DiGeorge Syndrome
Lamiya Aliyeva
SS-22-024 0135 Pyruvate kinase deficiency in four children with two unpublished mutations
Ekrem Ünal
SS-22-025 0136 A case report with 18q deletion syndrome characterized by severe skin findings
Çağrı Doğan
SS-22-026 0119 The importance of dysmorphology in genetic diagnosis- a case report with index finger anomaly
Nadide Cemre Randa
SS-22-027 0141 CYP4F22 Gene Mutations in Patients with Autosomal Recessive Congenital Ichthyosis: Identification of Three Novel Mutations
Esra Arslan Ateş
SS-22-028 0145 Werner syndrome: two siblings with a novel splicing mutation in WRN gene
Aslı Ece Solmaz
SS-22-029 0058 A case with mutation in the TNFRSF1A gene
Hilal Yücel



Sözel Sunumlar - 5 & 6
Oturum Başkanları: Muammer Özgür Çevik, Kerem Teralı, Zuhal Altıntaş
23 Şubat 2019, Cumartesi | 14:30 - 16:00 | 16:30 - 18:00
SS-23-001 0018 The clinical significance of HOTAIR/miR-217 axis on renal cell carcinoma
Sercan Ergün
SS-23-002 0024 A Rare AMH Variant In A Case With Persistent Mullerian Duct Syndrome
Hande Küçük Kurtulgan
SS-23-003 0031 Two diseases associated with chromosome 19 in an infertile male patient
Malik Ejder Yıldırım
SS-23-004 0009 Investigation of {LC3} Gene Expression in Patients with Coronary Artery Disease
Tuğba Topaloğlu
SS-23-005 0021 Predicting the molecular phenotype of familial amyotrophic lateral sclerosis: computational studies of the rare SOD1 A4T mutant protein
Kerem Teralı
SS-23-006 0076 Features of electroencephalography ın huntington disease: evaluatıon of genotype and electrophysiology of one family
Recep Baydemir
SS-23-007 0143 A population based study: genetics of smoking
Emine Kandemis
SS-23-008 0051 The role of cytokines in the pathophysiology of chronic tonsillitis
Selin Akad
SS-23-009 0100 Gene Expression Research In Children With Attention Defıcıt Hyperactivity Disorder
Hilal Akalin
SS-23-010 0134 Cytokine gene polymorphism frequencies in Turkish Population with comparisons to other populations: A meta -analysis
Sacide Pehlivan
SS-23-011 0157 A novel mutation in WDR62 gene in a patient with autosomal recessive primary microcephaly
Hilmi Bolat
SS-23-012 0144 Design and analysis of an effective antigen against tetanus by in-silico method
Ebrahim Valipour

Poster Sunumlar

Oturum Başkanları: Abdulgani Tatar, Öztürk Özdemir, Mahmut Çerkez Ergören, Oğuz Çilingir
PS-001 0012 Neurofibromatosis Type Rare Form: 17q11.2 Microdeletion Syndrome Haydar Bağış
PS-002 0013 Kleefstra Syndrome (9q34.3 Microdeletion Syndrome): A Case Report Hamide Saygılı
PS-003 0023 Orofaciodigital syndrome XVII; a rare case report Ömer Yakar
PS-004 0042 A Case of Rubinstein Taybi Syndrome with A Very Rare Finding; Dandy Walker Malformation Neslihan Cinkara
PS-005 0043 A Case with 15q11-13 Duplication Syndrome Büşra Eser Çavdartepe
PS-006 0044 Joubert Syndrome: A Novel Mutation of TCTN3 Gene Fahrettin Duymuş
PS-007 0045 A case of Cri du Chat syndrome Abdulgani Tatar
PS-008 0062 A case of Wolf Hirschhorn syndrome accompanied by thrombocytopenia Başak Kurucu İşsiz
PS-009 0063 An approach to amenorrhea with three cases Büşra Yılmaz
PS-010 0064 Coexistance of Tetrasomy X and Taurodontism: A case report Burak Başer
PS-011 0065 Two siblings with a rare diagnosis, Raymond type X-linked syndromic mental retardation Ferda Emriye Perçin
PS-012 0067 A Family with Symphalangism Syndrome Burcu Tabakcı
PS-013 0081 Investigation of the polymorphisms of deleted in azoospermia like (DAZL), 5-metylentetrahydrofolate reductase (MTHFR) and follicle stimulating hormone receptor (FSHR) genes in male infertility Zeynep Kavasoğlu
PS-014 0088 Microfluidic Sperm Sorting Chip usuage as an alternative method in recurrent IVF failure patients Şengül Yüksel
PS-015 0089 A Case Report of Mosaic Turner’s Syndrome with 45,X/47,XXX Karyotype Tuğçe Yaşar Küçük
PS-016 0091 Genetic factors in male infertility Nuriye Gökçe
PS-017 0092 A case of neurofibromatosis with a new neurofibromin mutation: c.5392C>T Derya Beyza Sayin Kocakap
PS-018 0093 Molecular analysis of {SMN1} and {SMN2} genes with the patients pre-diagnosed with spinal muscular atrophy Nilgün Karasu
PS-019 0094 Jak2 Gene V617F Mutation Analysis in Myeloproliferative Diseases Busra Aynekin
PS-020 0107 Determination of Senescence Susceptibilities of Adipose Tissue-Originated Mesenchymal Stem Cells From Obese And Non-Obese Mouse Models Ayşegül Murat
PS-021 0116 Investigation of Hematological Malignites with Cytogenetic and Fluorescent In Situ Hybridization Methods Damla Badur Mermer
PS-022 0120 A case with 45,X[34]/46,X,i(X)(q10)[5] karyotype Hüseyin Yüce
PS-023 0121 A family with rare E167D mutation from Turkey with a total of four members clinically diagnosed as FMF Recep Eröz
PS-024 0079 A combined oxidative phosphorylation deficiency 10 case in a non-consanguineous family Mehmet Ali Ergün
PS-025 0097 Identification and frequency of {CFTR} gene variants Sercan Kenanoglu
PS-026 0109 Effect of Metformin on Multipotent Stromal Cells Mustafa Burak Acar
PS-027 0113 Spectrum of {PAH} gene variants in phenylketonuria patients Betül Seyhan Siniksaran
PS-028 0048 Chronic Tinnitus and BDNF/GDNF Promoter Methylations Seda Orenay Boyacioglu
PS-029 0105 Investigation Of {CYP2D6} Variants In Children With Attention Deficit And Hyperactivity Disorder Hilal Akalin
PS-030 0137 Molecular Approaches in Hematological Malignancies Esra Akyürek
PS-031 0028 45,X and SRY positive male with infertility: A case report Abdulgani Tatar
PS-032 0146 Atypical case of Angelman syndrome in infant with 45,X,der(15)t(y;15)(q12;q10) karyotype Ulviyya Kazimli
PS-033 0103 Distal 10p duplication at distal 18q deletion syndrome Betül Turan
PS-034 0151 {Partial trisomy 4q}, case report of a rare chromosomal disorder Saide Betül Arslan
PS-035 0153 A mosaic Klinefelter Syndrome patient with 45,X/46,XY/47,XXY karyotype Kübra Baysal

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