A5038646976- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital Heart Disease Studies
- Congenital Anomalies and Fetal Surgery
- Sexual Differentiation and Disorders
- Acute Myeloid Leukemia Research
- Assisted Reproductive Technology and Twin Pregnancy
- Lymphoma Diagnosis and Treatment
- Acute Lymphoblastic Leukemia research
- Nasal Surgery and Airway Studies
- Glycosylation and Glycoproteins Research
- Ophthalmology and Eye Disorders
- Parvovirus B19 Infection Studies
- Neurofibromatosis and Schwannoma Cases
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Fetal and Pediatric Neurological Disorders
- Reproductive Biology and Fertility
- Dermatoglyphics and Human Traits
- Chronic Lymphocytic Leukemia Research
- Renal and related cancers
- Tracheal and airway disorders
- Osteoarthritis Treatment and Mechanisms
Başkent University
2013-2024
Marymount University
2022
Başkent University Hospital
2022
Şişli Etfal Eğitim ve Araştırma Hastanesi
2021
Medical Genetics Center
2015
Intergen (Turkey)
2011
Humboldt-Universität zu Berlin
2010
Charité - Universitätsmedizin Berlin
2010
Ondokuz Mayıs University
2009
Ankara University
2006-2009
Abstract This report describes the dysmorphic features and frequency of 22q11.2 deletion (del22q11) in 30 Turkish patients with conotruncal heart defects (CTHDs). Fluorescence situ hybridization (FISH) analysis revealed deletions region nine (30%) individuals. The CTHDs this group were tetralogy Fallot (four cases), double‐outlet right ventricle (DORV) (two transposition great arteries ventricular septal defect (VSD) associated other (one case). del22q11 study was relatively high because...
To investigate how different degrees of crushing affect the viability human nasal septum chondrocytes in adherent cell cultures.Cartilage grafts were harvested from septa 15 patients who underwent submucosal resection. Five cartilage pieces prepared each specimen as follows: was left intact, slightly crushed, moderately significantly or severely crushed. Chondrocytes isolated for trypan blue dye exclusion testing, and numbers viable cells determined at 1, 2, 3, 10 days after culturing....
Objectives/Hypothesis To achieve injectable tissue‐engineered cartilage using a commercially available fibrin sealant, and to determine the most suitable glue concentration, source, cultured chondrocyte concentration. Study Design Animal research. Methods A total of 28 immuncompetent New Zealand white rabbits were divided into four groups. The chondrocytes from different anatomical sources carried in with without aprotinin concentrations fibrinogen thrombin (Tisseell), injected forehead...
The choice of anesthetic technique for Caesarean section a pregnant woman with cerebral arteriovenous malformation (AVM) is made to maintain stable cardiovascular system, but due the rarity this condition, no definitive guidelines exist.We report case management AVM (grade V). After diagnosis, radiologists decided perform angiography and endovascular operation treatment after termination pregnancy. patient refused undergo procedure beginning contractions uterus, she was admitted hospital...
A reliable diagnostic test for Helicobacter pylori is important in clinical practice and research. The ideal H. should be sensitive, specific, cost-effective. resistance to clarithromycin a common reason failure of eradication therapy. aim this study was evaluate the fluorescent situ hybridization (FISH) method detect determine formalin-fixed, paraffin-embedded gastric biopsy specimens. One hundred seventeen specimens from patients with dyspepsia were examined presence by conventional...
Conventional cytogenetic analysis and fluorescence in situ hybridization (FISH) results of bone marrow samples 36 multiple myeloma (MM) patients at the time diagnosis have been evaluated. Three probes for chromosome 13q (RB1, D13S319, D13S25), one 14q32 (IgH) 17p13 (p53) used with fixed cells. Twenty (55.5%) had normal karyotypes, whereas eight (22.2%) numerical or structural chromosomal abnormalities. We did not find metaphases patients. Fluorescence analyses revealed least more abnormal 25...
Abstract Myelodysplasia refers to abnormal morphology of the bone marrow and/or peripheral blood. This condition is frequently due myelodysplastic syndrome; however, myelodysplasia caused by a variety factors and not always sign pre‐malignant disease. We observed changes in blood smears specimens from patient who had chromosomal microdeletion 22q11.2 (del22q11.2). then investigated such several other patients were newly diagnosed with del22q11.2 ( n = 5 total, including index case) compared...
Objective: Hemochromatosis is an autosomal recessive disease that one of the most important reasons for iron overload.Sickle cell a hemoglobinopathy occurs as result homozygous mutation in hemoglobin gene.Erythrocyte transfusion frequently used treatment this disease.Iron overload mortality and morbidity sickle anemia patients well other hemoglobinopathies.In study, effect hemochromatosis gene (HFE) p.H63D p.C282Y mutations on transfusion-related cardiac liver who carry S has been...
Specific chromosome abnormalities and genetic changes in hepatocellular carcinoma (HCC) have been demonstrated by conventional cytogenetic studies or molecular approaches like comparative genomic hybridization loss of heterozygosity analyses. HER-2/Neu amplification expression has studied as a target for treatment HCC, there are conflicting results. We aimed to determine status archive materials HCC patients fluorescence situ (FISH). Among the 35 patients, 2 had 3 increased 17 copy number....
Familial Mediterranean fever (FMF) is characterized by recurrent fever, serositis, and arthritis. Due to the abundance of mutations clinical heterogeneity disease, different screening methods have been developed. In this study, we aimed compare our findings determined polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with reverse hybridization (RH) methods. 152 263 patients (57.79%) were RH. Allelic frequencies E148Q 6.84%, M680I(G/C) 3.61%, M694V 20.91%, V726A...
We report a rare case of 49,XXXXY syndrome with autoimmune diabetes (requiring insulin therapy), bilateral cataracts and unilateral glaucoma.A 25-year-old man mental retardation presented multiple skeletal abnormalities, polyuria polydipsia. He had high glucose concentrations, without ketonuria, hypergonadotropic hypogonadism. Ophthalmic examination revealed polar cataract in both eyes increased intraocular pressure the left eye. The anti-islet cell antibody test was positive, anti-glutamic...
Two local (Vezir-1 and Vezir-2) two standard (M9 MM106) clonal apple rootstocks were compared using both morphological molecular markers. International Union for the Protection of New Varieties Plants criteria used evaluation, which did not clearly separate these rootstocks. We tested 47 random decamer primers amplified polymorphic DNA analysis; 15 them gave reproducible patterns, yielding 109 bands, showed 78% polymorphism. Based on a dendrogram obtained by unweighted pair group method...
Abstract A 39‐year‐old woman who became pregnant with twins after an intracytoplasmic sperm injection was referred at the ninth gestational week to determine chorionicity. Ultrasonographic examination showed a monochorionic diamniotic twin pregnancy. First trimester nuchal translucency measurements of fetuses were 1.6 and 2.7 mm. non‐invasive prenatal test performed revealed low risk. One fetus appeared be female other male 14th week. Second anatomic scanning results otherwise normal for...