Browsing Tıbbi Genetik Anabilim Dalı by Issue Date
Now showing items 1-20 of 23
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Sitokalasin-B ile bloklanan hücrelerde yaşa bağlı mikronükleus oranları / Yaşar Bekir Kutbay; Danışman Gülsen Ökten.
(Ondokuz Mayıs Üniversitesi, Tıp Fakultesi, 2001)Yaşlanma sürecindeki temel mekanizmanın genetik materyal organizasyonunda ve ekspresyonundaki instabilite olduğu ileri sürülmüştür. Bu instabiliteyi ortaya koymak için farklı çalışmalar yapılmaktadır. Bunlardan biri de ... -
21 - hidroksilaz eksikliğine bağlı klasik tip konjenital adrenal hiperplazi'de gen mutasyon analizi sonuçlarının klinikle ilişkilendirilmesi / Berk Özyılmaz ; danışman Gönül Oğur
(Ondokuz Mayıs Üniversitesi, Tıp Fakultesi, 2010)… -
Kronik myeloid lösemide Philadelphia kromozomu ve BCR/ABL füzyon transkripti belirlenmesinde real-time PCR, FISH ve sitogenetik yöntemlerin karşılaştırılmalı değerlendirilmesi / Fatma Ekici ; danışman Gönül Oğur
(Ondokuz Mayıs Üniversitesi, Tıp Fakultesi, 2011)… -
Kronik lenfositik lösemi hastalarının prognozunda floresan in situ hibridizasyon (FISH) ve CLLU1 ekspresyon çalışmalarının önemi / Ümmet Abur ; Danışman Gönül Oğur.
(Ondokuz Mayıs Üniversitesi, Tıp Fakultesi, 2015)… -
Vesicourethral Reflux-Induced Renal Failure in a Patient with ICF Syndrome Due to a Novel DNMT3B Mutation
(Wiley, 2016)ICF syndrome is a primary immunodeficiency disease characterized by hypo-or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF syndrome presents with frequent respiratory ... -
Could familial Mediterranean fever gene mutations be related to PFAPA syndrome?
(Wiley, 2016)BackgroundThe cause and pathophysiology of PFAPA syndrome is unknown. The aim of this study was to determine all MEFV gene variants relevant to familial Mediterranean fever in children with PFAPA syndrome. MethodsAll MEFV ... -
Çocukluk çağı otoinflamatuar hastalıklarında MVK, NLRP3, TNFRF1A ve MEFV gen mutasyon dağılımı : Kuzey Anadolu deneyimleri / Engin Altundağ ; danışman Gönül Oğur
(Ondokuz Mayıs Üniversitesi, Tıp Fakultesi, 2016)… -
Tirozin kinaz inhibitörlerine (TKİ) dirençli kronik myeloid lösemi (KML) hastalarında BCR-ABL kinaz bölge mutasyonlarının sıklığı, dağılımı ve prognoza etkisi / Ömer Salih Akar ; Danışman Gönül Oğur.
(Ondokuz Mayıs Üniversitesi, Tıp Fakultesi, 2017)… -
Esansiyel trombositoz ve primer miyelofibrozis hastalarında kalretikulin mutasyonlarının sıklığı ve prognostik öneminin değerlendirilmesi / Huri Sema Aymelek ; Danışman M.Gönül Oğur.
(Ondokuz Mayıs Üniversitesi, Tıp Fakultesi, 2017)… -
Impact of Fluorescent in Situ Hybridization Aberrations and CLLU1 Expression on the Prognosis of Chronic Lymphocytic Leukemia: Presentation of 156 Patients from Turkey
(Galenos Yayincilik, 2018)Objective: This study evaluates the impact of CLLU1 expression and fluorescent in situ hybridization (FISH) analysis of a group of Turkish chronic lymphocytic leukemia (CLL) patients. Materials and Methods: A total of 156 ... -
Frequency and risk factors of neural tube defects in Samsun province
(2018)Objective: Neural tube defects (NTD) are a group of severe human congenital malformations and complexdisorders appear to be affected by multiple factors, both genetic and environmental contributions.To asses the frequency ... -
The impact of ERCC6 or ERCC8 genes in two turkish patients with clinical findings of cockayne syndrome
(Nature Publishing Group, 2018)… -
Which Ischemic Stroke Subtype Is Associated with Hyperhomocysteinemia?
(Elsevier, 2018)Background: Stroke is still a major global health problem in both developed and developing countries. Defining stroke subtype and underlying etiologies is a major step to choose the best method for prophylaxis. Homocysteine ... -
A family of HHH syndrome with a novel missense mutation in SLC25A15 gene
(Nature Publishing Group, 2018)… -
Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey
(Wolters Kluwer Medknow Publications, 2019)Objective: Genetic burden, fetal malformations, and fetal outcomes of 93 fetuses with cystic hygroma (CH) are reported from a single center in Turkey. Patients and Methods: Pregnancies, having a diagnosis of fetal CH, ... -
Tr-KIT/c-KIT ratio in renal cell carcinoma
(Springer, 2019)Truncated KIT (tr-KIT) is an alternative variant of c-KIT protein. Previous studies have clearly documented that c-KIT was associated with various oncogenic processes in RCC. However, the biological significance of tr-KIT ... -
Chromosomal and Y-chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions
(Wiley, 2019)The present study investigated the frequency of chromosome aberrations and AZF microdeletions in infertile patients with nonobstructive azoospermia (NOA) or severe oligozoospermia. Additionally, the effect of the AZFc ... -
A first case of OFDVI with c.3545delA and c.7400+1G > A mutations for CPLANE1 gene
(Nature Publishing Group, 2019)…
