Affiliation: Ege University
- Ring chromosome 20 syndrome with intractable epilepsyAsude Alpman
Genetic Diseases Research and Application, Centre Ege University, Bornova, Izmir, Turkey
Dev Med Child Neurol 47:343-6. 2005..The patient was diagnosed with r(20) syndrome after 13 years of clinical follow-up. Karyotype analysis should, therefore, be performed in every patient with intractable epilepsy of unknown aetiology...
- Febrile seizures: interleukin 1beta and interleukin-1 receptor antagonist polymorphismsGul Serdaroglu
Department of Pediatrics, Division of Child Neurology, Ege University Medical School, Izmir, Turkey
Pediatr Neurol 40:113-6. 2009..29 vs 0.15, P = 0.020). IL-1beta -511 and IL-1 receptor antagonist intron 2 variable tandem repeat polymorphisms may be involved in susceptibility to febrile convulsions in children...
- Multidrug resistance 1 (MDR1) gene polymorphisms in childhood drug-resistant epilepsyAsude Alpman
Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey
J Child Neurol 25:1485-90. 2010..In conclusion, MDR1 polymorphisms investigated in this study are not associated with antiepileptic drug resistance, but the CC3435/GG2677 compound genotype might have an effect on antiepileptic drug response...
- The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, TurkeyBurak Durmaz
Division of Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey
Genet Test Mol Biomarkers 13:163-6. 2009..In conclusion, genetic service should be encouraged among physicians and patients in addition to the diagnosis, prognosis, and disease management efforts...
- Association of interleukin-1beta and interleukin-1 receptor antagonist gene polymorphisms in Turkish children with atopic asthmaDost Zeyrek
Division of Allergy and Pulmonology, Department of Pediatrics, Aegean University School of Medicine, Izmir, Turkey
Allergy Asthma Proc 29:468-74. 2008..Based on these findings, it has been proposed that IL-1beta -511C/T and IL-Ra intron 2 gene polymorphism are useful markers for prediction of asthma...
- Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndromeHese Cosar
Department of Neonatology, Tepecik Training and Research Hospital, Izmir, Turkey
Clin Dysmorphol 20:187-9. 2011..The parents of the patient were consanguineous, supporting autosomal recessive inheritance. Molecular analysis revealed a homozygous mutation in cytokine receptor-like factor-1 gene in the patient...
- Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referralsAsude Alpman
Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey
Fetal Diagn Ther 25:58-61. 2009..The objective of this study was to evaluate the incidence and reasons for referrals for prenatally detected Turner syndrome and cystic hygroma cases among prenatal cases performed between 1998 and 2007...