- Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele
Department of Medical Genetics, Ege University Faculty of Medicine, Bornova Izmir, Turkey
J Pediatr Endocrinol Metab 25:957-62. 2012
..Mutation analysis identified 96.9% of the GD alleles. The N370S mutation had the highest prevalence (50%) followed by the L444P (35.5%) alleles. We identified a novel L385R missense mutation that is associated with type 1 GD...
- Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population
Department of Medical Genetics, Ege University Faculty of Medicine, Bornova, Izmir, Turkey
Int J Hematol 102:1-6. 2015
..The results obtained in this study may help inform decisions in the design and implementation of prevention strategies and diagnostic approaches...
- The rate of sex chromosome aneuploidies in prenatal diagnosis and subsequent decisions in Western Turkey
Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey
Genet Test Mol Biomarkers 16:150-3. 2012
..Prenatal diagnosis was performed in 7505 cases in the period of January 1998 through December 2009...
- Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation
Department of Medical Genetics, Ege University Faculty of Medicine, Medical School Hospital, Bornova, Izmir, Turkey
Hemoglobin 39:230-4. 2015
..The results will help to prevent severe β-thal through genetic counseling and prenatal diagnosis (PND) in the Aegean region of Turkey...
- Genotyping of β-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders
Department of Medical Genetics, Ege University, Faculty of Medicine, Bornova, Izmir, Turkey
Hemoglobin 36:230-43. 2012
- Association between bronchopulmonary dysplasia and MBL2 and IL1-RN polymorphisms
Bilin Çetinkaya Cakmak
Division of Neonatology, Department of Pediatrics, Ege University Faculty of Medicine, Bornova Izmir, Turkey
Pediatr Int 54:863-8. 2012
..The aim of this study was to investigate the relationship between MBL, IL1-RN gene polymorphisms and BPD development in preterm infants...
- The genotoxic effect of radiofrequency waves on mouse brain
Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey
J Neurooncol 106:53-8. 2012
..It was found that MNi rate increased 11-fold and STAT3 expression decreased 7-fold in the cell cultures which were exposed to RF. Cell phones which spread RF may damage DNA and change gene expression in brain cells...
- Evolution of genetic techniques: past, present, and beyond
Asude Alpman Durmaz
Department of Medical Genetics, Ege University Faculty of Medicine, 35100 Izmir, Turkey
Biomed Res Int 2015:461524. 2015
..In this paper, a brief summary of genetic history with short explanations of most popular genetic techniques is given. ..
- The effect of interleukin-10 gene promoter polymorphisms on early-onset coronary artery disease
Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey
Anadolu Kardiyol Derg 11:285-9. 2011
..We assessed the association between interleukin-10 (IL-10) -1082G/A and -592C/A polymorphisms, and coronary heart disease (CHD)...
- Reasons for adult referrals for genetic counseling at a genetics center in Izmir, Turkey: analysis of 8965 cases over an eleven-year period
Department of Medical Genetics, Ege University, Bornova, Izmir, Turkey
J Genet Couns 20:287-93. 2011
..Organization of genetic services and systematic procedures for genetic counseling and genetic testing may improve the public's awareness of genetics and ensure a high standard of patient care...