A5056990662- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genetic factors in colorectal cancer
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Chromosomal and Genetic Variations
- Lung Cancer Treatments and Mutations
- Genomics and Rare Diseases
- Gestational Trophoblastic Disease Studies
- Cancer-related molecular mechanisms research
- Parvovirus B19 Infection Studies
- Cancer Genomics and Diagnostics
- Inflammasome and immune disorders
- Connective tissue disorders research
- Lung Cancer Diagnosis and Treatment
- Ectopic Pregnancy Diagnosis and Management
- Metabolism and Genetic Disorders
- Adipose Tissue and Metabolism
- Molecular Biology Techniques and Applications
- Renal and related cancers
- Regulation of Appetite and Obesity
- Tumors and Oncological Cases
- Congenital Heart Disease Studies
Izmir Tepecik Eğitim ve Araştırma Hastanesi
2013-2025
İzmir Şehir Hastanesi
2025
Dokuz Eylül University
2019-2024
Sağlık Bilimleri Üniversitesi
2018-2023
Universidad CES
2023
Gazi University
2007-2020
Izmir University
2018-2020
Boğaziçi University
2020
Royal Prince Alfred Hospital
2020
The University of Sydney
2020
Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration nHH remains unknown. We aimed to provide insight into the disease mechanism in GHS. studied a cohort 6 multiplex families with GHS through autozygosity mapping whole-exome sequencing. identified patients from 3 independent carrying loss-of-function mutations PNPLA6, which encodes neuropathy target...
Abstract Metastatic colorectal cancer (CRC) is still in need of effective treatments. This study applies a holistic approach to propose new targets for treatment primary and liver metastatic CRC investigates their therapeutic potential in-vitro. An integrative analysis samples was implemented alternative target proposals. Integrated microarray were grouped based on co-expression network analysis. Significant gene modules correlated with phenotypes identified. Network clustering pathway...
Background and Purpose: Recently, the “Epidermal Growth Factor Receptor” gene its related pathways are potential targets in precision medicine for “Non-Small Cell Lung Cancer” cases. The presented study is a proof of concept study, which utilizes exosomal miRNAs as an easy cheap liquid biopsy approach. We aim to investigate, 4 miRNAs: miR-30b, miR-30c, miR-221-3p, miR-22-3p; miR-1288 control. They defined literature previously. Methods: Thirty-six samples from distinct Non-Small Cancer cases...
Ventriculomegaly (VM) is a marker of aneuploidy and warrants detailed examination fetal anatomy. Chromosomal abnormalities worsen the neonatal prognosis significantly karyotyping fetuses critically important when accompanying anomalies are detected. Here, we report genetic results 140 with isolated non-isolated VM detected during second trimester ultrasound followed by invasive in utero diagnostic procedures for karyotyping. was diagnosed seven (5%) abnormal karyotype chromosomal abnormality...
Introduction Lung cancer (LC) is a leading cause of cancer-related mortality worldwide. Approximately 80% LC cases are the non-small cell lung (NSCLC) type, and approximately two-thirds these diagnosed in advanced stages. Only systemic treatment methods can be applied to patients stages when there no chance surgical treatment. Identification mutations that vital importance determining appropriate methods. New noninvasive needed repeat monitor molecular analyses. In this regard, liquid biopsy...
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...
Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder linked to increased cancer risk due specific genetic variants in the STK11 gene. This study aimed assess disease manifestations, profiles, and genotype-phenotype correlations PJS patients. Twenty patients from 14 families with who were followed up at our clinic between 2011 2021 included. Genetic susceptibility cancers was assess-ed using targeted next-generation sequencing (NGS) multiplex ligation-dependent probe amplification...
The aim of this study is to evaluate the frequency and types associated anomalies with results ultrasonographic postmortem examination identify necessity prenatal karyotyping among fetuses open neural tube defects (NTD). Fetuses diagnosed NTDs between 2008 2012 were retrospectively analysed. A total 167 that prenatally karyotyped, terminated examined at evaluated. Associated detected classified by detailed ultrasonography autopsy findings. In total, 57 (34.1%) had anomalies. Prenatal 73.1%...
Two common forms of autoimmune thyroid diseases are Graves' disease and Hashimoto's thyroiditis. Cytotoxic T lymphocyte antigen 4 (CTLA4) encoded by the CTLA4 gene on chromosome 2q33 plays a role in susceptibility to is probably important also for thyroiditis as well other endocrine disorders. The locus only nonhuman leukocyte that has been found association with repeatedly. Particularly, three polymorphic markers gene, namely, C(-318)T, A49G, (AT)n dinucleotide repeat, was demonstrated most...
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...
Supernumerary marker chromosome 15 (sSMC[15]) is the most frequent chromosome, and it generally regarded as unimportant if does not contain Prader-Willi/Angelman syndrome critical region (PWACR).The clinical importance of larger markers in association with mentioned almost all reports related to 15, smaller are solely associated minor dysmorphic features, azoospermia recurrent miscarriages.However, these small sSMC(15)s without PWACR may also determine a specific phenotype.A examination an...
This study presents a nonamplification-based nucleic acid assay for the detection of single-nucleotide polymorphism (SNP) associated with familial Mediterranean fever (FMF) besides polymerase chain reaction (PCR)-based methodologies. The major objective is to show potential proposed rapid screening FMF in region 400 million population. relies on binding difference specially designed wild and mutant primers target genomic DNA, followed by determination unbound quick titration cationic...
Reported here is a 2-year-old girl who was diagnosed to have thiamine-responsive megaloblastic anemia during evaluations for her bilateral neurosensorial deafness. Besides reporting new mutation on the gene SLC19A2 first time in literature, we highlight recognition of this syndrome—when and diabetes mellitus coexists—and role thiamine replacement treatment both disorders.
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...
Obesity is a multifactorial disease that influenced by genetic and environmental factors. The apolipoprotein E (Apo E) polymorphism has been reported to influence some lipid profile abnormalities associated with obesity in childhood. In this study, the relationship between Apo gene Taq1A polymorphisms childhood studied. Regarding genotypes, e3/4 was most frequent both patient control groups. Further, there significance genotypes low density lipoprotein total cholesterol levels. However, no...
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,...
Osteogenesis imperfecta (OI), is a heritable, heterogeneous connective tissue disorder, characterized by fragile bones. There are conflicting results about genotype-phenotype correlations and efficiency of bisphosphonate treatment in this disorder.We aimed to evaluate the clinical, genetic characteristics, long-term follow-up children adolescents with OI.A two-center retrospective study was conducted using demographic, data obtained from medical records patients.Twenty-nine patients (62%...
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...
Abstract We report a rare case of mosaic ring chromosome 22 duplication/deletion in fetus for whom karyotype analysis was required because an abnormal finding the maternal serum screening test and choroid plexus cyst detected on prenatal ultrasound. Additional study amniotic fluid by fluorescence situ hybridization performed terminal 22q13.3 deletion chromosome. The final 45,XX,‐22[3]/46,XX,r(22)(p11q13.2)[63]/46,XX,idicr(22)(p11q13.2;p11q13.2)[2]dn.ishder(22)(N25+, ARSA‐, ter‐). pegnancy...