Makale Koleksiyonu
Recent Submissions
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Comprehensive genetic analysis results of tsc1/tsc2 genes in patients with clinical suspicion of tuberous sclerosis complex and definition of 3 novel variants
(Trakya Üniversitesi, 2021)Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous ... -
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 ... -
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 ... -
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 ... -
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 ... -
The impact of ERCC6 or ERCC8 genes in two turkish patients with clinical findings of cockayne syndrome
(Nature Publishing Group, 2018)… -
A family of HHH syndrome with a novel missense mutation in SLC25A15 gene
(Nature Publishing Group, 2018)… -
Joubert Syndrome:New genes described! A new allelic phenotypes achieved!
(Nature Publishing Group, 2019)… -
A first case of OFDVI with c.3545delA and c.7400+1G > A mutations for CPLANE1 gene
(Nature Publishing Group, 2019)… -
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 ... -
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, ... -
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 ... -
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 ...
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