Sevcan Tuğ Bozdoğan

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BACKGROUND Arthrogryposis, defined as congenital joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposis, and variants of more than 220 genes have been associated with these disorders; however, the underlying(More)
INTRODUCTION β-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey and in this retrospective study our aim was to determine the frequency of β-thalassemia and hemoglobinopathies in Adana, which is one of the biggest cities located in the southern part of Turkey. MATERIAL AND METHODS Data from 3000 individuals admitted to Seyhan(More)
We investigated the relationship between the distribution of the IL-1RN, TNF-β and IL-4 polymorphism and the clinical features of bladder cancer. A total of 100 patients with bladder carcinoma and 102 healthy control subjects were enrolled in the study. The IL-1RN, IL-4 and TNF-β gene polymorphisms were identified by PCR restriction fragment length(More)
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex,(More)
INTRODUCTION The associations between the gene polymorphisms and erectile dysfunction (ED) are limited. AIM To examine a potential association between variable number of tandem repeats (intron 4 VNTR), G894T polymorphisms, and ED in Turkish men. METHODS Sixty-four men with ED and 82 healthy men as a control group were included in the study. The patients(More)
Klippel-Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and recessive inheritance patterns were reported in families with Klippel-Feil. Mutated genes for both dominant(More)
OBJECTIVE To date, studies in all populations showed that mutations in the gene of Gap junction protein beta 2 (GJB2) play an important role in non-syndromic autosomal recessive congenital hearing loss. The aim of this study was to evaluate GJB2 gene of patients with hearing loss in our region using deoxyribonucleic acid (DNA) sequencing method and to(More)
Thalassemias are genetically heterogeneous group of disorders with reduced or absent production of globin. β-Thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense β-thalassemia (β-thal) mutation at codon 37 (TGG>TGA; Trp→Stop)(More)
To look over the distribution of the mutations in a large series from Adana province, Southern Turkey, and determine the genotype-phenotype correlation of the frequent mutations. Among the 2500 individuals with mild or moderate anemia, microcytosis, and normal iron levels that were referred to our Genetic Diagnosis Center, a population consisting of 539(More)
BACKGROUND The contribution of genetic factors in hypertension cannot be denied. METHODS In this study we evaluated the relationship between vitamin D receptor (VDR) gene polymorphisms (Bsm-I, Apa-I and Fok-I), and target organ damage in 74 patients (female/male 49/25, mean age 49.2 +/- 8 years) with essential hypertension. The VDR genotypes were(More)