Bilimsel Program

20 Şubat 2020, Perşembe

08:30 - 09:00 Açılış Töreni
09:00 - 10:20 Oturum Başkanları: Ahmet DURSUN, Munis DÜNDAR
09:00 - 09:20 Down sendromlu bebeklerde prenatal belirteçler; genetik danışmanlık yönüyle değerlendirme Hatice ILGIN RUHİ
09:20 - 09:40 Mozaisizmin yanlış pozitif ve negatif cfDNA test sonuçlarındaki rolü Seher BAŞARAN
09:40 - 10:00 Tek gen hastalıklarında PGT ve eş zamanlı kromozomal tarama Volkan BALTACI
10:00 - 10:20 NIPT testlerde son gelişmeler Nejat İMİRZALIOĞLU
10:20 - 10:40 Kahve Molası
10:40 - 12:20 Oturum Başkanları: Derya ERÇAL, Özgür ÇOĞULU
10:40 - 11:00 Moleküler otopsi: Postmortem genetik testin önemi Şehime Gülsün TEMEL
11:00 - 11:20 Digenik kalıtım ve mutasyonel etkileri Özgür ÇOĞULU
11:20 - 11:40 Sendromik ve non-sendromik obeziteye genel bakış Yeşim ÖZDEMİR
11:40 - 12:00 Bariatrik cerrahideki başarısızlıkların genetik temelleri Murat ÇAĞ
12:00 - 12:20 Örnek olgularla array uygulamalarında karşılaşılan sorunlar ve çözüm önerileri Birsen KARAMAN
12:20 - 13:30 Öğle Yemeği
13:30 - 15:50 Oturum Başkanları: Gökay BOZKURT, Beyhan TÜYSÜZ
13:30 - 13:50 Büyümenin genetiği Beyhan TÜYSÜZ
13:50 - 14:10 İnsan büyüme hormonun klonlanması, ekspresyonu ve fonksiyonun gösterilmesi Ahmet ARMAN
14:10 - 14:30 Yaşlanma genetiği Pınar ATA
14:30 - 14:50 Şizofreni genetiği Haluk AKIN
14:50 - 15:10 Nörokardiolojik kanalopatilerin genetik patogenezi Evrim BAYRAK
15:10 - 15:30 Endotel-Damar düz kas iletişim hastalıklarında genetik Arda ÇETİNKAYA
15:30 - 15:50 Kalıtsal retinal hastalıklar ve güncel tedavi yaklaşımları Şule ALTINER
15:50-16:10 Kahve Molası
16:10 - 19:00

SALON A - Sözel Sunumlar 1

Oturum Başkanları: Emine Berrin YÜKSEL, Asude DURMAZ

16:10 - 19:00

SALON B - Sözel Sunumlar 2

Oturum Başkanları: Haydar BAĞIŞ, Gökhan OZAN ÇETİN

21 Şubat 2020, Cuma

09:00 - 10:20 Oturum Başkanları: Yusuf ÖZKUL, Cengiz YAKICIER
09:00 - 09:20 Mikrobiyom-Genom ilişkisi Ayça AYKUT
09:20 - 09:40 Genom editing teknolojileri ve tıpda uygulamaları Nadir KOÇAK
09:40 - 10:00 Spatial reconstruction of population histories using genetic, climatic and environmental information Pierpaolo Maisano DELSER
10:00 - 10:20 İnsan genomunda rekombinasyon etkisi ve mutasyon birikimi Mahmut Çerkez ERGÖREN
10:20 - 10:40 Kahve Molası
10:40 - 12:00 Oturum Başkanları: Emin KARACA, Hakan AKÇA
10:40 - 11:00 Unravelling the clonal landscape of mixed germcell tumours Raheleh RAHBARI
11:00 - 11:20 Yeni nesil dizileme testlerinin yenidoğan ve kanser taramalarında kullanımı Ercan MIHÇI
11:20 - 11:40 Kanserde hassas tıp uygulamaları Cengiz YAKICIER
11:40 - 12:00 Onkolojide yeni nesil dizileme teknolojileri ve likit biyopsi Atıl BİŞGİN
12:00 - 13:00 Öğle Yemeği
13:00 - 14:00 Oturum Başkanı: Ajlan TÜKÜN
Kanser tedavisinde popüler hedef: Kromatin remodeling
Mekanizmalar - Güvem GÜMÜŞ AKAY
Solid Tümorler - Kanay YARARBAŞ
Hematolojik maligniteler - Nüket YÜRÜR KUTLAY
14:00 - 15:00 Oturum Başkanı: Uğur ÖZBEK
Üreme genetiğinde hassas tıp uygulamaları Feride İffet ŞAHİN
Zerrin YILMAZ ÇELİK
Yunus Kasım TERZİ
15:00 - 15:20 Kahve Molası
15:20 - 16:20 Oturum Başkanları: Hakan GÜRKAN, Nur SEMERCİ
15:20 - 15:40 Epilepsi ve genetik Hakan GÜRKAN
15:40 - 16:00 Parkinson hastalığında genetik tanı ve tedavinin önemi Aslı SUBAŞIOĞLU
16:00 - 16:20 Nöromüsküler hastalıklara genetik yaklaşım Nur SEMERCİ
16:20 - 16:50 Kahve Molası
16:50 - 19:00

SALON A - Sözel Sunumlar 3

Oturum Başkanları: Sevcan BOZDOĞAN, Zühal ALTINTAŞ, Burak DURMAZ

16:50 - 19:00

SALON B - Sözel Sunumlar 4

Oturum Başkanları: Hilmi TOZKIR, Muhammet DOĞAN, Arslan BAYRAM

22 Şubat 2020, Cumartesi

09:00 - 10:40 Oturum Başkanları: Füsun DÜZCAN, Gamze MOCAN
09:00 - 09:20 Farklı hastalık grupları için genetik danışmanlık modelleri Umut FAHRİOĞLU
09:20 - 09:40 Polikistik over sendromu olan kadınlarda oosit gelişiminin moleküler temeli Pınar TÜLAY
09:40 - 10:00 Epigenetik biyobelirteçlerin fizyolojik ve patolojik durumlarda kullanılabilirliği Rasime KALKAN
10:00 - 10:20 Tıbbi genetikte biyomoleküler modelleme: Hastalıkla ilişkili genlerdeki sessiz olmayan mutasyonların çözümlenmesi üzerine vaka temelli bir yaklaşım Kerem TERALI
10:20 - 10:40 Nörogenetik hastalıklarda güncel tedaviler Hüseyin PER
10:40 - 11:40 Tıbbi Genetik Cemiyeti (KKTC) ve Tıbbi Genetik Derneği (Türkiye) Yuvarlak Masa Toplantısı
Oturum Başkanları: Munis DÜNDAR , Mehmet Ali ERGÜN
11:40 - 12:00 Kahve Molası
12:00 - 13:20 Oturum Başkanları: Serpil TAHERİ, Çetin SAATÇİ
12:00 - 12:20 Meme kanserlerinde hedef tedaviye yönelik gelişmeler: FOXM1 sinyal yolağı Zuhal HAMURCU
12:20 - 12:40 Otizm ve CC2D1A ilişkisi Elif Funda ŞENER
12:40 - 13:00 Psöriasiste telomer disfonksiyonu Serpil TAHERİ
13:00 - 13:20 Peptit nükleotid analog ve kullanım alanları Hilal AKALIN
13:30 Ödül Töreni ve Kapanış

Sözlü Sunumlar

SÖZEL SUNUMLAR - 1
Oturum Başkanları : Emine Berrin YÜKSEL, Asude DURMAZ
20 Şubat 2020, Perşembe | 16:10-19:00 | Salon A
SS-20-101 0001 The sexual and psychological conditions of male patients with Klinefelter syndrome and vasal agenesis Numan BAYDİLLİ
SS-20-102 0005 Family screening of a child with Werdnig-Hoffman's disease by MLPA Malik Ejder YILDIRIM
SS-20-103 0007 Lethal skeletal dysplasias Emine AYDIN
SS-20-104 0009 WES in a Family with Vestibular Problems and Hearing Loss Yunus ARIKAN
SS-20-105 0059 A case with recurrent pneumonia and cystic lung disease Hamza POLAT
SS-20-106 0019 Novel RAB3GAP1 mutation causing Warburg Micro syndrome in Turkish girl Özden ÖZTÜRK
SS-20-107 0025 The frequency of CCR5 ∆32 gene variant in the Turkish Cypriot population and Nigerian and Zimbabwean populations living in North Cyprus Havva ÇOBANOĞULLARI
SS-20-108 0026 Serum expression level of miR-15a and miR-190b were significantly lower in delirious state when compared with non-delirious state with similar underlying diseases Mehmet Bugrahan DÜZ
SS-20-109 0030 Genetics of Coronary Atherosclerosis; A case report Hanife SAAT
SS-20-110 0031 A large Tangier family with a pathogenic ABCA1 gene variant Selcan ÖZTÜRK
SS-20-111 0033 Clinical Utility of a Multigene Panel For Hematologic Malignancies Sevcan Tug BOZDOGAN
SS-20-112 0037 Investigation of miR-145 target genes in multiple myeloma cell lines Murat KAYA
SS-20-113 0060 A case of Myhre syndrome with a very rare finding: Severe constipation Neslihan CİNKARA
SS-20-114 0039 Identifying new players in fetal haemoglobin expression, from cell cultures' bioinformatic to banchtop. Yunus ARIKAN
SS-20-115 0045 Is I-FISH competing with metaphase FISH and cytogenetics, in the diagnosis of prenatal interchange trisomy 21 Elvin KAZANCIOĞLU
SS-20-116 0049 Autosomal Recessive Form of Clouston Syndrome? Muhammer Özgür ÇEVİK
SS-20-117 0053 From Pediatric Emergency To Genetics Feyza Hüsrevoğlu ESEN
SS-20-118 0057 A rare cancer predisposition disorder: DICER1 Syndrome Hamza POLAT
SÖZEL SUNUMLAR - 2
Oturum Başkanları : Haydar BAĞIŞ, Gökhan OZAN ÇETİN
20 Şubat 2020, Perşembe | 16:10-19:00 | Salon B
SS-20-201 0104 Reanalysis of trio whole exome sequencing (WES) data with a novel variant prioritization workflow reveals a de-novo missense variant in EBF3 gene associated with hypotonia and developmental delay Burcu Bakır GÜNGÖR
SS-20-202 0093 Developing evidence based computerized diagnostic tools for breast cancer early prediction Gulten TUNCEL
SS-20-203 0061 ZBTB24 novel mutation identified in Turkish ICF syndrome patient Ayşe İLKER
SS-20-204 0066 Is Autosomal Dominant Hyperlipidemia Genetic Testing Crucial for Risk Analysis? İpek YILMAZ
SS-20-205 0068 A case with multiple reciprocal balanced translocations with primary infertility Mert PEKERBAŞ
SS-20-206 0090 Molecular genetic characterization of {ABCA4} gene in Stargardt disease Ahmet ARMAN
SS-20-207 0070 Effect of Histon Deacetylase Inhibitor Vorinostat on Gene Expression in Polarized Macrophages Samet TÜREL
SS-20-208 0072 A rare dısease: ullrıch congenıtal muscular dystrophy Fahrettin DUYMUŞ
SS-20-209 0073 Clinical impact of a targeted next-generation sequencing gene panel for immunodeficiency- Our first results Yasemin Kendir DEMİRKOL
SS-20-210 0074 A novel mutation of infantile epileptic encephalopathy type 9; a rare genetic disorder with an interesting inheritance pattern Çiğdem Yüce KAHRAMAN
SS-20-211 0075 A Patient with Two De Novo Variants, One Causes Recessive and Other Causes Dominant Disorder Özge Beyza Gündoğdu ÖĞÜTLÜ
SS-20-212 0076 A single center experience: Challenges and advices in reporting of incidental findings in Whole Exome Sequencing Akif AYAZ
SS-20-213 0078 The utility of whole exome sequencing in the diagnosis of rare skeletal dysplasias: Ege experience Duygu ARICAN
SS-20-214 0079 Evaluation of clinical, cardiological and possible causes of inherited thrombophilia risk of patients with Down Syndrome Recep ERÖZ
SS-20-215 0082 Hypohidrotic ectodermal dysplasia: A novel mutation in the {EDA} gene Mikail DEMİR
SS-20-216 0094 An extremely rare condition Rhizomelic chondrodysplasia punctata type 5 in a large kindred Turkish family Meryem BETMEZOĞLU
SS-20-217 0127 Transaldolase deficiency in a patient with hypergonadotrophic hypogonadism: novel mutation in the pentose phosphate pathway Fatma Kurt COLAK
SS-20-218 0129 Diagnostic Efficiency of Clinical Exome Solution Panel in patients with Deafness/Hearing Loss Adem ALEMDAR
SS-20-219 0145 A novel EDAR gene variant causing autosomal dominant hypohidrotic ectodermal dysplasia Kübra BAYSAL
SÖZEL SUNUMLAR - 3
Oturum Başkanları : Sevcan BOZDOĞAN, Zühal ALTINTAŞ, Burak DURMAZ
21 Şubat 2020, Cuma | 16:50-19:00 | Salon A
SS-21-301 0038 Targeted next-generation sequencing for Limb-Girdle Muscular Dystrophies achieves a high diagnostic yield Büşranur ÇAVDARLI
SS-21-302 0087 Retrospective evaluation of pgd-hla cases for diverse genetic diseases Gamze BİLGİLİ
SS-21-303 0011 Next-generation sequencing based panel testing for primary myelofibrosis Taha BAHSİ
SS-21-304 0096 Clinical, electrodiagnostic, and genetic features of Kennedy disease (spinal and bulbar muscular atrophy) in a patient with proximal muscle weakness Mehmet Fatih YETKİN
SS-21-305 0100 An unexpected patient with recently named mental retardation. The report of the very first case of GATAD2B-related neurodevelopmental disorder in Turkey Huseyn BABABYEV
SS-21-306 0103 A unique cytogenetic progression pattern of a chronic myeloid leukemia patient Emin KARACA
SS-21-307 0106 Missense rarely mutation, c.435 T>G, on MSH2 gene of breast cancer Aydın DEMİRAY
SS-21-308 0107 Two siblings with IL11RA mutation: the rare cause of autosomal recessive craniosynostosis Emre KİRAT
SS-21-309 0108 4 years old boy with Sotos Syndrome: A Case Report Nedim KARAGENÇ
SS-21-310 0151 Therapeutic approach to DMD with HSP70-hom and HSP70-2 Büşra AYNEKİN
SS-21-311 0154 A novel variant in the EFTUD2 gene is associated with mandibulofacial dysostosis with microcephaly in a Turkish patient and her mother Kübra KIRANATLIOĞLU
SS-21-312 0160 Retrospective evaluation of chimerism analysis after allogeneic transplantation for malignant and non-malignant hematological diseases Mehmet ERCAN
SS-21-313 0130 The evaluation of Th17-related cytokines, IL-6-driven STAT3 phosphorylation in a child with novel HYOU1 gene mutation Ekrem ÜNAL
SS-21-314 0131 A novel variant in the SLC2A2 gene associated with glycogen storage disease type XI Fırat ÖZÇELİK
SS-21-315 0141 Investigation of SOX15 Gene Expression As A New Potential Tumor Suppressor in Thyroid Carcinoma Betül Seyhan SINIKSARAN
SÖZEL SUNUMLAR - 4
Oturum Başkanları : Hilmi TOZKIR, Muhammet DOĞAN, Arslan BAYRAM
21 Şubat 2020, Cuma | 16:50-19:00 | Salon B
SS-21-401 0112 Genetic analyses in understanding of renal tubulopathies Demet KEMER
SS-21-402 0115 A newborn of fatal surfactant metabolism dysfunction with homozygous mutation in ABCA3 gene Ümmet ABUR
SS-21-403 0116 A Case of Ovarian Cancer with Double Heterozygous Mutations in BRCA1 and BRCA2 genes Ömer Salih AKAR
SS-21-404 0117 Multiple neurodevelopmental disorder and CNTNAP2 gene deletion Halil ÖZBAŞ
SS-21-405 0118 Incidentally identified a MYL2 gene variant responsible for cardiomyopathy during moleculer analysis of Hermansky Pudlak Syndrome: Evaluation of incidentally detected variants in whole-exome sequencing analysis Tuba Sözen TÜRK
SS-21-406 0119 Clinical Exome Sequencing Analysis of A Patient With Corneal Distrophy Onur TOKGÜN
SS-21-407 0120 The Importance Of The Integrated Molecular Approach To Glycogen Storage Disease Ethiology Ebru TUNÇEZ
SS-21-408 0016 Investigation of receptor-ligand gene pair mutations in hypogonadotropic hypogonadism Leman Damla Kotan GEDİK
SS-21-409 0069 The evaluation of 36 Turner Syndrome cases with cytogenetic findings and clinical features of amenorrhea and premature ovarian failure. Ferah KAZANCI
SS-21-410 0135 A novel "" AMPD2 "" gene variant related to Pontocerebellar hypoplasia type 9 Arslan BAYRAM
SS-21-411 0109 Submicroscopic insertion of PML segment into RARA on chromosome 17q resulting a very rare variant of PML-RARA fusion in acute promyelocytic leukemia Burak DURMAZ
SS-21-412 0110 Pathogenic Variations of {MUTYH} Gene in Hereditary Cancer Cases Altuğ KOÇ
SS-21-413 0111 MODY genetics: novel variants and genotype-phenotype correlation Seray BOZKURT

Poster Sunumları

PS-001 0004 Cause of Craniosynostosis in a Monozygotic twin case; Crouzon Syndrome Haydar BAĞIŞ
PS-002 0021 Investigation of Repeat Numbers (CAG, CTG, CGG, GAA, GCC) and Variable Expression of Our Patients with Trinucleotide Repeat Disease in Afyonkarahisar Serap Tutgun ONRAT
PS-003 0029 A case report of rare mutation in PIK3CA Dilek Özata AKSOY
PS-004 0032 Homozygous frameshift mutation in DDB2 gene induced squamous cell and basal cell carcinomas in a child with xeroderma pigmentosum Fatma SİLAN
PS-005 0041 Distribution of fetal chromosomal polymorphisms in high-risk pregnancies Halis ÖZDEMİR
PS-006 0042 Distribution of cytogenetic findings in 4857 prenatal cases Halis ÖZDEMİR
PS-007 0043 A rare chromosomal aneuploidy that diagnosed with array CGH and MLPA validation: Trisomy 4 in a fetus Volkan SÖNMEZ
PS-008 0048 Frequency of chromosome disorders in patients with sperm number anomaly Mehmet NİYAZ
PS-009 0051 A novel frameshift mutation of the EXT1 gene in patient with hereditary multiple exostoses Esra HABİLOĞLU
PS-010 0055 A Recurrent Hps1 Gene Mutation In A Hermansky Pudlak Patient With Uncommon Clinical Presentation Ceren ALAVANDA
PS-011 0056 Evaluation of the patient with recurrent fever Ebru ARSLAN
PS-012 0062 A male phenotype due to the occurrence of SRY gene product in a mosaic case of an idicY and XX male karyotype Lale YILMAZ
PS-013 0067 Investigation of {ARHGEF12} single nucleotide polymorphism in hypercholesterolemic primary open angle glaucoma Derya YAMAN
PS-014 0077 Novel compound heterozygote mutations in the ATP7B gene in a Turkish family with Wilson disease Deniz ESİN
PS-015 0088 A Rare Disease: Alpha Thalassemia X-Linked Intellectual Disability Syndrome Hande KULAK
PS-016 0091 A fetus With Inherited 22q11.2 Deletion And Importance Of Genetic Counseling Akif AYAZ
PS-017 0092 A double dose effect of Assisted Reproductive Technologies and surrogacy in the epigenome of ART children: A metanalysis Pembe SAVAS
PS-018 0099 Case Report: Hereditary Form of Methemoglobinemia Büsra Göksel TULGAR
PS-019 0105 Trifunctional Protein Deficiency due to a de novo HADHB mutation In three siblings Aslı SUBAŞIOĞLU
PS-020 0113 A Rare Copy Number Variation of Xp22.33 Region: A Case Report Pınar Aslan KOŞAR
PS-021 0114 SNORD116 deletions cause all features of Prader-Willi syndrome Demet GÜL
PS-022 0052 Determination of the frequency of the STAT3 polymorphisms (c.-1915C>G, c.1671C>T, c.-1- 13666T>C, c.273+314A>G/T) in patients with kidney and urinary system congenital anomaly (CAKUT) Yunus Kasim TERZİ
PS-023 0134 Pitt- Hopkins Syndrome: A rare genetic cause of global developmental delay. Ulviyya KAZIMLI
PS-024 0136 Retrospective evaluation of chimerism analysis after allogeneic transplantation for malignant and non-malignant hematological diseases Özlem Gökçe EKİNCİ
PS-025 0137 A Child With Double Trisomy (48,XXX,+21) Down Syndrome: Case Report Kamuran AVCI
PS-026 0157 Investigation of whether HSP70-hom and with endoplazmic reticulum stress gene can be therapeutic marker Büşra AYNEKİN

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Duyurular
  • 20 Şubat 2020
    Kongre Tarihi
  • Nevşehir
    Kongre Yeri
  • Ramada by Wyndham Cappadocia
    Kongre Oteli


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