Asude Alpman

Summary

Affiliation: Ege University
Country: Turkey

Publications

  1. ncbi request reprint Molecular analysis and clinical findings of Griscelli syndrome patients
    Asude Durmaz
    Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey
    J Pediatr Hematol Oncol 34:541-4. 2012
  2. doi request reprint A novel aspartoacylase (ASPA) gene mutation in Canavan disease
    Asude Alpman Durmaz
    Ege University Medical Faculty, Department of Medical Genetics, Bornova, Izmir, Turkey
    Fetal Pediatr Pathol 31:236-9. 2012
  3. doi request reprint The Association of minor congenital anomalies and childhood cancer
    Asude Durmaz
    Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey
    Pediatr Blood Cancer 56:1098-102. 2011
  4. doi request reprint Interview with parents of children with Down syndrome: their perceptions and feelings
    Asude Durmaz
    Faculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey
    Indian J Pediatr 78:698-702. 2011
  5. doi request reprint Multidrug resistance 1 (MDR1) gene polymorphisms in childhood drug-resistant epilepsy
    Asude Alpman
    Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey
    J Child Neurol 25:1485-90. 2010
  6. doi request reprint Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals
    Asude Alpman
    Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey
    Fetal Diagn Ther 25:58-61. 2009
  7. doi request reprint Febrile seizures: interleukin 1beta and interleukin-1 receptor antagonist polymorphisms
    Gul Serdaroglu
    Department of Pediatrics, Division of Child Neurology, Ege University Medical School, Izmir, Turkey
    Pediatr Neurol 40:113-6. 2009
  8. doi request reprint The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey
    Burak Durmaz
    Division of Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey
    Genet Test Mol Biomarkers 13:163-6. 2009
  9. ncbi request reprint Ring chromosome 20 syndrome with intractable epilepsy
    Asude Alpman
    Genetic Diseases Research and Application, Centre Ege University, Bornova, Izmir, Turkey
    Dev Med Child Neurol 47:343-6. 2005
  10. doi request reprint Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome
    Hese Cosar
    Department of Neonatology, Tepecik Training and Research Hospital, Izmir, Turkey
    Clin Dysmorphol 20:187-9. 2011

Collaborators

Detail Information

Publications11

  1. ncbi request reprint Molecular analysis and clinical findings of Griscelli syndrome patients
    Asude Durmaz
    Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey
    J Pediatr Hematol Oncol 34:541-4. 2012
    ..This report has importance in phenotype-genotype correlation of different types of mutations including missense mutations and deletions within the RAB27A gene in GSII syndrome...
  2. doi request reprint A novel aspartoacylase (ASPA) gene mutation in Canavan disease
    Asude Alpman Durmaz
    Ege University Medical Faculty, Department of Medical Genetics, Bornova, Izmir, Turkey
    Fetal Pediatr Pathol 31:236-9. 2012
    ..In this report, we present a novel mutation Y88X within the aspartoacylase gene in a consanguineous family with an affected child diagnosed as Canavan disease...
  3. doi request reprint The Association of minor congenital anomalies and childhood cancer
    Asude Durmaz
    Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey
    Pediatr Blood Cancer 56:1098-102. 2011
    ..In this study, we aimed to investigate the prevalence and patterns of age-independent minor anomalies in childhood cancer patients...
  4. doi request reprint Interview with parents of children with Down syndrome: their perceptions and feelings
    Asude Durmaz
    Faculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey
    Indian J Pediatr 78:698-702. 2011
    ..The authors focused on the effect of having a child with Down syndrome on the parents, factors causing problems on the family and the characteristics of a family with children having Down syndrome...
  5. doi request reprint Multidrug resistance 1 (MDR1) gene polymorphisms in childhood drug-resistant epilepsy
    Asude 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...
  6. doi request reprint Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals
    Asude 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...
  7. doi request reprint Febrile seizures: interleukin 1beta and interleukin-1 receptor antagonist polymorphisms
    Gul 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...
  8. doi request reprint The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey
    Burak 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...
  9. ncbi request reprint Ring chromosome 20 syndrome with intractable epilepsy
    Asude 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...
  10. doi request reprint Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome
    Hese 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...
  11. doi request reprint Association of interleukin-1beta and interleukin-1 receptor antagonist gene polymorphisms in Turkish children with atopic asthma
    Dost 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...