A5085736637- Prenatal Screening and Diagnostics
- Lung Cancer Treatments and Mutations
- Genetics and Neurodevelopmental Disorders
- Glycosylation and Glycoproteins Research
- Thyroid Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Sexual Differentiation and Disorders
- Connective tissue disorders research
- RNA modifications and cancer
- Lung Cancer Research Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Blood Coagulation and Thrombosis Mechanisms
- Brain Metastases and Treatment
- Hereditary Neurological Disorders
- Congenital Ear and Nasal Anomalies
- Ubiquitin and proteasome pathways
- Pancreatic function and diabetes
- BRCA gene mutations in cancer
- Chronic Myeloid Leukemia Treatments
- Parvovirus B19 Infection Studies
- Chromosomal and Genetic Variations
- Platelet Disorders and Treatments
- Neurogenetic and Muscular Disorders Research
- Genetic Syndromes and Imprinting
Sağlık Bilimleri Üniversitesi
2018-2024
Izmir University
2018-2024
DNA Diagnostic (Denmark)
2024
Izmir Tepecik Eğitim ve Araştırma Hastanesi
2017-2022
İzmir Demokrasi Üniversitesi
2022
Antalya IVF
2020
Neurology, Inc
2020
Amasya Üniversitesi
2019
Ege University
2007-2011
Abstract Introduction Brain metastasis (BM) in non-small cell lung cancer (NSCLC) is still an important reason for morbidity and mortality despite the advances treatment. Using tyrosine kinase inhibitors against epidermal growth factor receptors (EGFR) mutations revolutionized NSCLC We investigated whether presence of EGFR mutation influences survival patients with adenocarcinoma BM. Material methods The data pathological diagnoses BM at tertiary hospitals were analyzed retrospectively terms...
Limb-girdle muscular dystrophy (LGMD) is the fourth most common dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because this, use high-throughput methods such as next-generation sequencing (NGS) important in evaluation LGMD.In this report, we applied custom target capture-based NGS panel covering 31 LGMD-associated genes (MYOT, LMNA, CAV3, DES, DNAJB6, FLNC, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, TRIM32,...
Abstract Introduction Ectopic ACTH secretion is a rare cause of endogenous hypercortisolism. Herein, case Cushing’s syndrome due to bilateral immunhistochemically-proven positive adrenal neoplasms presented. Clinical Case A 60 year old women was admitted with acute-onset severe hypokalemia and hyperglycemia. She had metabolic alkalosis her serum K levels kept being below 1.5 mmol/L, if left untreated. Physical examination demonstrated facial upper body flushing, but otherwise normal....
Background Maturity-onset diabetes of the young (MODY) is a common form monogenic diabetes. Fourteen genes have been identified, each leading to cause different type MODY. The aims this study were reveal both known and novel variants in MODY patients with using targeted next generation sequencing (NGS) present genotype-phenotype correlations. Methods Mutation analysis (GCK, HNF1A, HNF4A, HNF1B, ABCC8, INS KCNJ11) was performed NGS 106 clinical diagnosis evaluated according American College...
SECISBP2 is an essential factor in selenoprotein synthesis, and its mutations result a multiorgan syndrome, including abnormal thyroid hormone metabolism. A 10-year-old obese Turkish boy born to consanguineous parents presented with high thyroxine, low triiodothyronine, reverse normal or slightly elevated thyrotropin. He also had attention-deficit disorder muscle weakness but no delay growth bone age. Sequencing of genomic DNA revealed novel c.800_801insA, p.K267Kfs*2 mutation, homozygous...
The aim of this study was to determine the frequencies chromosomal abnormalities and Y-chromosome microdeletions in Turkish cases with primary male infertility a single center.Chromosomal were investigated 1696 between 2012 2017. Karyotype analyzes [azoospermia factor (AZF) regions] performed all by using standard cytogenetic methods multiplex polymerase chain reaction method, respectively.Chromosomal found 142 (8.4%; 142/1696). detected 46 (2.7%; 46/1696). AZFc region 20 (43%).This is one...
Radioisotope synovectomy (RS) is defined as the intra-articular injection of radioisotopic agents with aim fibrosis on hypertrophic synovium in target joint. The this study was to investigate genotoxic effects lymphocytes and malign transformation induced by Yttrium(90) (Y(90)) Rhenium(186) (Re(186)) children haemophilia undergone RS. Forty patients were enrolled. mean age 16.4 +/- 6.2 years (range: 8-40). Y(90) used for knees, Re(186) other joints. For safety, cytogenetic analysis performed...
Background Chromosomal microarray analysis is the first‐tier test for evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results 971 patient 301 parent samples. Materials Methods Among samples, 133 (13.6%) had pathogenic variants. Results While analyzing, an “in‐house” variant database was also used besides other databases. Owing to this, have found chance report most frequent benign variants in Turkish population. Conclusion With additional...
Abstract Background Next‐generation sequencing (NGS) and discovery of fetal cell‐free DNA (cfDNA) in the maternal circulation render possible prenatal screening for trisomy 21 (Down syndrome), 18, 13, sex chromosome aneuploidies. The approach is called “fetal cfDNA screening” contrast to noninvasive conventional serum screening, it provides identification 98%–99% fetuses with Down syndrome. Methods Retrospective analysis targeted testing (NIPT) (Clarigo Test) pregnancies moderate risk, which...
Exhaled breath is a source of volatile and nonvolatile biomarkers in the body that can be accessed non-invasively used for monitoring. The collection lung secretions by conventional methods such as bronchoalveolar lavage, induced sputum collection, core biopsies limited invasive nature these methods. Non-invasive exhaled condensate (EBC) provides fluid samples are representative airway lining fluids. Various detected condensates, H2O2, nitric oxide, lipid mediators, cytokines, chemokines,...
Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palatelip, hypotelorism, microcephaly, and panhypopituitarism.Congenital pyriform aperture stenosis lethal cause of neonatal respiratory distress due to narrowing the anteriorly it can be confused with choanal atresia.In this report, we present newborn infant solitary accompanied by other including stenosis, microcephaly...
Classic galactosemia (CG) is a rare hereditary disease that can cause serious morbidity and death if it not diagnosed treated in early periods of life. Clinical findings usually occur the neonatal period after neonate fed with milk contains galactose. Most patients are presented jaundice, hepatomegaly, hypoglycemia cataracts.We aimed to document clinical, molecular characteristics, regional estimated incidence time diagnosis newborn CG.The data 63 CG who were followed up between January 2011...
Lung cancer has opened a new era in treatment by elucidating the tumor's molecular structure and identifying targetable mutations. Identifying targeted mutations lung constitutes one of main steps planning. The frequency EGFR (epidermal growth factor receptor gene) ALK (anaplastic lymphoma kinase non-small cell (NSCLC) also varies populations depending on ethnicity, gender, smoking, histopathological subtype. In general, limited data are available regarding regional distribution these...
Background. Immunosuppression at the feto-maternal interface is crucial for a successful pregnancy outcome. Human leukocyte antigen-G (HLA-G) seems to be major contributor fetal tolerance. The HLA-G expression seen in cytotrophoblasts and maternal blood. Fetal acts on decidual antigen-presenting cells (APCs), natural killers (NKs) T cells. Recent findings revealed that defects placentation their consequences are associated with variants levels.Objectives. objective of this article...
Abstract Periodic fever syndromes ( PFS s) are a family of clinical disorders, which characterized by recurrent episodes in the absence microbial, autoimmune or malign conditions. Most common types s associated with four genes: MEFV , MVK TNFRSF 1A and NLRP 3 . This paper aims to add new data genotype–phenotype association -, -1A- ‐associated s. A total number 211 patients were evaluated. Two different approaches used for molecular genetic evaluation For first 147 patients, Sanger sequence...
Background. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare autosomal recessive disorder caused by mutations in the immunoglobulin μ-binding protein-2 (IGHMBP2) gene on chromosome 11q13.2-q13.4. The initial symptoms of patients SMARD1 are and distal muscle weakness manifesting infantile period due to progressive degeneration α-motor neurons. Preterm birth, intrauterine growth retardation, feet deformities, sensory autonomic neuropathy...
Background/aim: QF-PCR has been used for more than 20 years. It is based on investigation of polymorphic short tandem repeats (STRs) and widely prenatal rapid aneuploidy detection. Materials methods: We report retrospectively our diagnosis results between January 2012 May 2014 in Tepecik Training Research Hospital Genetic Diagnostic Center. Prenatal was recommended 6800 high-risk pregnancies 2883 patients agreed to invasive diagnosis. Chromosome analysis were performed all patients. Results:...