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View article: BALLOON ANCHOR TECHNIQUE FOR CRYOBALLOON ABLATION IN CHALLENGING RIGHT INFERIOR PULMONARY VEINS
BALLOON ANCHOR TECHNIQUE FOR CRYOBALLOON ABLATION IN CHALLENGING RIGHT INFERIOR PULMONARY VEINS Open
View article: Platelet-to-Haemoglobin Ratio Predicts the Development of Left Ventricular Apical Thrombus
Platelet-to-Haemoglobin Ratio Predicts the Development of Left Ventricular Apical Thrombus Open
PHR is a simple, accessible marker for predicting AT in MI patients. Its use may improve early risk stratification and clinical outcomes.
View article: Reanalysis of genetic variants detected by next generation sequencing in Parkinson’s disease with two novel variants
Reanalysis of genetic variants detected by next generation sequencing in Parkinson’s disease with two novel variants Open
The authors have requested that this preprint be removed from Research Square.
View article: Evaluating of colchicine use patterns and attack frequency of <scp>familial Mediterranean fever</scp> patients in the <scp>COVID</scp>‐19 pandemic
Evaluating of colchicine use patterns and attack frequency of <span>familial Mediterranean fever</span> patients in the <span>COVID</span>‐19 pandemic Open
Familial Mediterranean Fever (FMF) is an autosomal recessive and dominant inherited disease and is the most common autoinflamma-tory disease characterized by recurrent episodes of fever, arthritis, and polyserositis.1Colchicine is the main…
View article: Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced microarray-CGH method
Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced microarray-CGH method Open
The oligophrenin-1 (OPHN1) gene is localized in the Xq12 region and it encodes the rho-GTPase-activating protein which spans 500 kb in size and consists of 25 exons. Gene plays crucial role in synaptic function and dendritic morphogenesis.…
View article: Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium Open
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mu…
View article: Copy number variations in patients with idiopathic recurrent pregnancy loss: an arrayCGH approach
Copy number variations in patients with idiopathic recurrent pregnancy loss: an arrayCGH approach Open
CNVs that may play a role in the genetic etiology of idiopathic RPL were revealed in our study and potential chromosomal loci were introduced to the literature for further analysis. The detection of CNVs and their association with reproduc…
View article: A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation
A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation Open
The chromosome 10q22.3q23.2 deletion syndrome is characterized by craniofacial dysmorphic features, developmental delay, congenital heart defect, and hand/foot abnormalities. In this study, we report a patient carrying a microdeletion of 7…
View article: Prognostic Prediction of BRCA Mutations by <sup>18</sup>F-FDG PET/CT SUV<sub>max</sub> in Breast Cancer
Prognostic Prediction of BRCA Mutations by <sup>18</sup>F-FDG PET/CT SUV<sub>max</sub> in Breast Cancer Open
The results of this study showed a strong association between BRCA mutations and SUVmax, which indicates the poor prognosis of BC.
View article: Delayed time of atrial conduction in children with Familial Mediterranean Fever
Delayed time of atrial conduction in children with Familial Mediterranean Fever Open
Introduction: Familial Mediterranean Fever (FMF) is a disease with recurrent fever, characterized by painful, noninfectious inflammation of the serous membranes. It mostly affects Armenians, Turks, Arabs and Jews. Prolonged inflammation in…
View article: The comparison of telomere length in cancer patients: Plasma, whole blood and tumor tissue
The comparison of telomere length in cancer patients: Plasma, whole blood and tumor tissue Open
View article: Diagnostic Outcomes for Genetic Testing of 54 Genes in Pregnancy Loss Using Array CGH Method: A Two-Year Retrospective Study
Diagnostic Outcomes for Genetic Testing of 54 Genes in Pregnancy Loss Using Array CGH Method: A Two-Year Retrospective Study Open
Objective: The current study aimed to retrospectively evaluate different diag- nostic approaches for the array genetic analysis of the cases from all trimester fetal loss in the medical genetics clinic between 2016 and 2017. The Quantitati…
View article: Is BCL11B a potential candidate gene for the diffuse cutaneous mastocytosis: A case report
Is BCL11B a potential candidate gene for the diffuse cutaneous mastocytosis: A case report Open
Introduction and Aim: Mastocytosis is a heterogeneous clinical phenotype spectrum characterized by the accumulation of mast cells in various organs. Cutaneous mastocytosis is the skin bounded form of this spectrum. Diffuse Cutaneous Mastoc…
View article: Detection of genotoxic effect of potassium permanganate by using in vitro micronucleus assay
Detection of genotoxic effect of potassium permanganate by using in vitro micronucleus assay Open
Objective: Hydrogen peroxide is a bleaching agent accepted as safe for environment and used for producing cotton fabrics. This process requires alkaline medium, stabilizer and high temperature. For this purpose, it is used extensively in t…
View article: The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas
The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas Open
OBJECTIVES: The aim of the present study was to investigate the presence of GJB2, GJB3, and GJB6 gene mutations in non-syndromic sensorineural hearing loss (NSHL) cases living in Sivas region, to provide appropriate genetic counseling for …
View article: Prevalence of <i>MEFV</i> gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia
Prevalence of <i>MEFV</i> gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia Open
None.
View article: The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance Open
View article: The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma
The diagnostic accuracy of non-invasive fetal RhD genotyping by using cell-free fetal DNA in maternal plasma Open
Introduction: The non-invasive prenatal diagnosis of the fetus RhD genotype in RhD incompatibility has a crucial role in the prevention of increased anti-D immunoglobulin therapy for haemolytic diseases in pregnant women carrying RhD negat…
View article: Warfarin Resistance: A Case Report
Warfarin Resistance: A Case Report Open
Warfarin is the most widely prescribed anticoagulant in the world. Patients who need more than 15 mg per day should be considered warfarin-resistant. Nearly 30 genes have been reported in association with warfarin pharmacogenetics but gene…
View article: Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation
Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation Open
Introduction: The present study aimed to evaluate macular and choroidal thicknesses in children with MEFV gene mutations.Methods: Thirty-five children with MEFV gene mutations and 40 healthy controls were included in the study. MEFV gene p…
View article: The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report
The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report Open
Background: Rearrangements that occur mainly through the non-allelic homologous recombination (NAHR) during maternal meiosis in short arms of chromosome 8 is relatively associated with various clinical spectrum. Aim: The objective of this …
View article: The prevelance of human papillomavirus (HPV) genotypes detected by PCR in women with normal and abnormal cervico-vaginal cytology
The prevelance of human papillomavirus (HPV) genotypes detected by PCR in women with normal and abnormal cervico-vaginal cytology Open
The frequency of HPV infection was found to be higher in our study compared to previous reports. Moreover, although HR-HPV genotypes were also detected in patients with normal cervical cytology, a majority of patients with HR-HPV genotypes…
View article: Prenatal diagnosis of aneuploidies and microdelation/duplication in amniotic fluid and fetal aborted material by QF-PCR and MLPA analysis
Prenatal diagnosis of aneuploidies and microdelation/duplication in amniotic fluid and fetal aborted material by QF-PCR and MLPA analysis Open
Objectives:The multiplex ligation-dependent probe amplification (MLPA) is fast, costeffective method that widely using in the prenatal screening.In the current study it was aimed to analyze the amnion and aborted materials by QF-PCR and ML…
View article: Evaluation of the physical and biological dosimetry methods in iodine-131-treated patients
Evaluation of the physical and biological dosimetry methods in iodine-131-treated patients Open
The aim of the study was to compare physical and biological dosimetry methods in iodine-131 (I-131)-receiving patients. The present study comprised of 47 patients (mean age: 47.9 ± 15.8 years), treated with I-131. Group I consisted of 17 p…
View article: Prenatal diagnosis of aneuploidies and microdelation/duplication in amniotic fluid and fetal aborted material by QF-PCR and MLPA analysis
Prenatal diagnosis of aneuploidies and microdelation/duplication in amniotic fluid and fetal aborted material by QF-PCR and MLPA analysis Open
Objectives:The multiplex ligation-dependent probe amplification (MLPA) is fast, costeffective method that widely using in the prenatal screening.In the current study it was aimed to analyze the amnion and aborted materials by QF-PCR and ML…
View article: The frequency of toll-like receptor 4 gene polymorphism in ankylosing spondylitis and its relationship between disease activity
The frequency of toll-like receptor 4 gene polymorphism in ankylosing spondylitis and its relationship between disease activity Open
Objectives. We aimed to evaluate the frequency of toll-likereceptor 4 (TLR4) gene polymorphism and its relationship between diseaseactivity in patients with ankylosing spondylitis (AS). Methods. Forty-one AS patients (25 male/16female) ful…
View article: Two candidate genes for recurrent pregnancy loss and infertility: Could ZP3 and UPK3B give us new diagnostic and therapeutic approach?
Two candidate genes for recurrent pregnancy loss and infertility: Could ZP3 and UPK3B give us new diagnostic and therapeutic approach? Open
Introduction: Chromosomal indels are relatively common cytogenetic abnormalities. Nonetheless, clinical outcomes depend on the location, size and genes in deletion or duplication regions. The zona pellucida is an extracellular matrix that …
View article: Evaluation of The Association Between Lithium Treatment and GSK3ß Polymorphism in Bipolar Disorder Patients
Evaluation of The Association Between Lithium Treatment and GSK3ß Polymorphism in Bipolar Disorder Patients Open
The specific GSK-3β polymorphism that associated with lithium-response in our study may help to predict lithium responses and to develop individualized treatment. We presume that our pharmacogenomic findings may also provide important cont…
View article: A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus
A mosaic infertile case of isodicentricY-chromosome with duplicated SRY, SHOX and deleted AZF locus Open
View article: The GJB2 gene mutation profiles in hearing ımpaired patients from Western Turkey, Canakkale
The GJB2 gene mutation profiles in hearing ımpaired patients from Western Turkey, Canakkale Open
It is reported that 60% of congenital bilateral sensorineural hearing loss is caused by genetic factors, and half of hearing loss at a later stage is due to a single gene mutation.In this study; it is aimed to investigate the hearing loss …