Murat Derbent

Summary

Affiliation: Istanbul University
Country: Turkey

Publications

  1. ncbi A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects
    Murat Derbent
    Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Clin Dysmorphol 14:27-30. 2005
  2. ncbi Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome
    Murat Derbent
    Department of Pediatrics, Clinical Genetics Unit, Baskent University Faculty of Medicine, Ankara, Turkey
    Am J Med Genet A 128:232-4. 2004
  3. ncbi Co-occurrence of chromosome 22q11.2 microdeletion and trisomy 21 mosaicism
    Murat Derbent
    Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Am J Med Genet 112:99-102. 2002
  4. ncbi Chromosome 22q11.2 microdeletion in a patient with hemophilia A
    Murat Derbent
    Department of Pediatrics, Clinical Genetics Unit, Baskent University Faculty of Medicine, 6, Street Bahcelievler, 06490 Ankara, Turkey
    Ann Genet 47:181-4. 2004
  5. ncbi Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects
    Murat Derbent
    Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Am J Med Genet A 116:129-35. 2003
  6. ncbi Effect of congenital heart disease on renal function in childhood
    Pinar Isik Agras
    Department of Pediatric Nephrology, Baskent University, Ankara, Turkey
    Nephron Physiol 99:p10-5. 2005
  7. ncbi Dysplastic changes in the peripheral blood of children with microdeletion 22q11.2
    Namik Ozbek
    Baskent University Faculty of Medicine, Department of Pediatrics, Pediatric Hematology Unit, Ankara, Turkey
    Am J Hematol 77:126-31. 2004
  8. ncbi Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations
    Murat Derbent
    Department of Paediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Pediatr Nephrol 21:390-3. 2006
  9. ncbi Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?
    Murat Derbent
    Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Ren Fail 31:589-92. 2009
  10. ncbi Prenatal diagnosis of a partial monosomy 7q11-->q31 in a fetus with split foot
    Zerrin Yilmaz
    Department of Medical Biology and Genetics, Baskent University Faculty of Medicine, Ankara, Turkey
    Fetal Diagn Ther 20:132-5. 2005

Collaborators

Detail Information

Publications23

  1. ncbi A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects
    Murat Derbent
    Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Clin Dysmorphol 14:27-30. 2005
    ..All six of the patients reviewed were male raising the possibility of X-linked inheritance...
  2. ncbi Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome
    Murat Derbent
    Department of Pediatrics, Clinical Genetics Unit, Baskent University Faculty of Medicine, Ankara, Turkey
    Am J Med Genet A 128:232-4. 2004
    ..In countries with high rates of consanguineous marriage, such as Turkey, it is important that physicians be able to recognize this syndrome. Micro syndrome should be considered in any infant with congenital cataract...
  3. ncbi Co-occurrence of chromosome 22q11.2 microdeletion and trisomy 21 mosaicism
    Murat Derbent
    Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Am J Med Genet 112:99-102. 2002
    ..The case suggests that association of del22q11.2 should be considered in patients with chromosomal mosaicism or aneuploidy who also have particular conotruncal cardiac defects...
  4. ncbi Chromosome 22q11.2 microdeletion in a patient with hemophilia A
    Murat Derbent
    Department of Pediatrics, Clinical Genetics Unit, Baskent University Faculty of Medicine, 6, Street Bahcelievler, 06490 Ankara, Turkey
    Ann Genet 47:181-4. 2004
    ..This case underlines that microdeletion of chromosome 22q11.2 should be considered in any patient who exhibits typical clinical features of 22qDS, regardless of whether they have another single-gene disorder...
  5. ncbi Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects
    Murat Derbent
    Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Am J Med Genet A 116:129-35. 2003
    ..Radiographs of this patient showed platybasia, complete fusion of C2-C3, and posterior fusion of the T1-T2 vertebrae. This particular case indicates that the phenotypic features of del22q11 and OAVS may overlap...
  6. ncbi Effect of congenital heart disease on renal function in childhood
    Pinar Isik Agras
    Department of Pediatric Nephrology, Baskent University, Ankara, Turkey
    Nephron Physiol 99:p10-5. 2005
    ..Most investigations of renal impairment in CHD have involved patients 20 years and older. This study investigated renal tubule function in pediatric patients with CHD, and compared findings in cyanotic and acyanotic groups...
  7. ncbi Dysplastic changes in the peripheral blood of children with microdeletion 22q11.2
    Namik Ozbek
    Baskent University Faculty of Medicine, Department of Pediatrics, Pediatric Hematology Unit, Ankara, Turkey
    Am J Hematol 77:126-31. 2004
    ..2 have not been reported previously. We believe that certain gene(s) in the deleted region may be responsible for the myelodysplastic changes that we observed in our patients with this chromosomal abnormality...
  8. ncbi Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations
    Murat Derbent
    Department of Paediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Pediatr Nephrol 21:390-3. 2006
    ..Such individuals should be carefully examined for brachydactyly and for cerebral-cerebellar and renal vascular malformations...
  9. ncbi Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?
    Murat Derbent
    Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Ren Fail 31:589-92. 2009
    ..Physicians should keep this syndrome in mind for any patient who presents with dysfunctional voiding, particularly in countries with high rates of consanguineous marriage...
  10. ncbi Prenatal diagnosis of a partial monosomy 7q11-->q31 in a fetus with split foot
    Zerrin Yilmaz
    Department of Medical Biology and Genetics, Baskent University Faculty of Medicine, Ankara, Turkey
    Fetal Diagn Ther 20:132-5. 2005
    ..A 27-year-old woman was referred to our laboratory for genetic counseling at 26 weeks of gestation due to abnormal ultrasound findings including intrauterine growth retardation, Dandy-Walker malformation and lower extremity anomalies...
  11. ncbi Neurofibromatosis--Noonan's syndrome with associated rhabdomyosarcoma of the urinary bladder in an infant: case report
    Pinar Isik Agras
    Department of Pediatrics, Baskent University, Ankara, Turkey
    J Child Neurol 18:68-72. 2003
    ..The presentation of our case underlines the importance of careful examination for the clinical features of neurofibromatosis and phenotypic traits of associated diseases, especially in patients with malignant tumors...
  12. ncbi Effect of iron deficiency anemia on renal tubular function in childhood
    Figen Ozcay
    Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Pediatr Nephrol 18:254-6. 2003
    ..There was no correlation between urinary N-acetyl-beta- D-glucosaminidase/creatinine and fractional excretion of sodium (r=0.32, P=0.09). The results suggest that children with iron deficiency anemia have impaired renal tubular function...
  13. ncbi PHACES syndrome with small, late-onset hemangiomas
    Birgin Torer
    Department of Pediatrics, Faculty of Medicine, Baskent University, Ankara, Turkey
    Eur J Pediatr 166:1293-5. 2007
    ..We noted that there is a possibility that hemangiomas may subsequently develop later in early infancy and congenital hypothyroidism may be associated with the PHACES syndrome...
  14. doi Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations
    Murat Derbent
    Baskent University Faculty of Medicine, Department of Pediatrics and Clinical Genetics, Ankara, Turkey
    Am J Med Genet A 152:2768-74. 2010
    ..However, if these assessments reveal nothing abnormal, complications related to coagulation are unlikely and extensive testing is unnecessary...
  15. ncbi Prenatal diagnosis of multiple pterygium syndrome associated with Klinefelter syndrome
    Arda Lembet
    Baskent University School of Medicine, Department of Obstetrics and Gynecology, Ankara, Turkey
    Prenat Diagn 23:728-30. 2003
    ..The importance of delineating the exact subtype of MPS and making a precise differential diagnosis becomes critical during the process of evaluation of patients with MPS...
  16. ncbi Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome
    Selman Vefa Yildirim
    Department of Pediatric Cardiology, Baskent University Faculty of Medicine, Adana, Turkey
    Turk J Pediatr 50:275-7. 2008
    ..CFC should be considered in patients with skin abnormalities in addition to phenotypic features and a congenital heart defect, including tetralogy of Fallot...
  17. doi Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene
    Murat Derbent
    Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey
    Clin Dysmorphol 17:127-8. 2008
    ..He had a mutation in exon 29 of the fibrillin-1 gene at position c.3602G>A. Functional pulmonary atresia may be a life-threatening cardiovascular manifestation of neonatal Marfan syndrome...
  18. doi Greig syndrome based on a de novo translocation
    Zerrin Yilmaz
    Department of Medical Genetics, Faculty of Medicine, Baskent University, Ankara, Turkey
    Pediatr Int 50:248-50. 2008
  19. ncbi Severe iron deficiency anemia in a child with idiopathic pulmonary hemosiderosis: a case report
    Murat Derbent
    Department of Pediatrics, Baskent University, Faculty of Medicine, Ankara, Turkey
    Turk J Pediatr 44:258-60. 2002
    ..We also suggest that high-dose short-term CS treatment should be kept in mind, especially in patients who do not respond to a standard dose...
  20. doi Oxidant/antioxidant status and vitamin A levels in children infected with varicella
    Zekai Avci
    Baskent University Faculty of Medicine, Department of Pediatrics, Ankara, Turkey
    Acta Paediatr 97:948-51. 2008
    ..Varicella is a childhood disease, with its highest incidence being found in children aged 1 to 9 years. The aim of this study was to investigate the plasma oxidant and antioxidant status in Turkish children with varicella infection...
  21. ncbi A mild case of frontonasal dysplasia: the rhinologic perspective
    Erkhan Genç
    Department of Ear Nose Throat and Head and Neck Surgery, Faculty of Medicine, Baskent University, 6 Cadde 72 2, 06490 Bahcelievler, Ankara, Turkey
    Int J Pediatr Otorhinolaryngol 65:75-83. 2002
    ..If a surgical correction is planned, this complete work-up prevents unexpected complications and complements the evaluation of paranasal deformities...
  22. ncbi Variable phenotype and associations in chromosome 22q11.2 microdeletion
    Murat Derbent
    Am J Med Genet A 140:659-60. 2006
  23. ncbi Coarctation of the aorta in two siblings from a triplet, diabetic, in vitro fertilization pregnancy
    Murat Derbent
    Teratology 66:57-8. 2002