Ozlem Giray

Summary

Affiliation: Dokuz Eylul University
Country: Turkey

Publications

  1. ncbi request reprint Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami"
    O Giray Bozkaya
    Dokuz Eylul University, Faculty of Medicine, Department of Pediatrics, Division of Genetics, Inciralti Izmir, Turkey
    Genet Couns 24:405-16. 2013
  2. ncbi request reprint Rhizomelia with anal atresia and anophthalmia: a new syndrome?
    Giray Ozlem
    Department of Pediatrics, Division of Genetics, DEU Genetic Diagnosis Center, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
    Clin Dysmorphol 17:53-6. 2008
  3. doi request reprint Clinical and morphological phenotype of geleophysic dysplasia
    Ozlem Giray
    Division of Genetics, Department of Pediatrics, Dokuz Eylul University, Yzmir, Turkey
    Ann Trop Paediatr 28:161-4. 2008
  4. ncbi request reprint A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy
    Aycan Unalp
    Division of Pediatric Neurology, Behçet Uz Child Disease and Pediatric Surgery Research and Educational Hospital, and Department of Pediatrics, School of Medicine, Dokuz Eylul University, Izmir, Turkey
    Pediatr Neurol 37:140-3. 2007
  5. doi request reprint Role of apolipoprotein E in febrile convulsion
    Ozlem Giray
    Division of Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey
    Pediatr Neurol 39:241-4. 2008
  6. ncbi request reprint Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy
    Ayfer Ulgenalp
    Department of Pediatrics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
    Turk J Pediatr 46:333-8. 2004
  7. ncbi request reprint An unusual case of monosomy 18p: minor malformations with speech delay
    Elçin Bora
    Divisions of Genetics, Department of Pediatrics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
    Turk J Pediatr 47:199-201. 2005
  8. ncbi request reprint Congenital cardiac defects with 22q11 deletion
    Ozlem Giray
    Department of Pediatric Genetics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
    Turk J Pediatr 45:217-20. 2003

Collaborators

Detail Information

Publications8

  1. ncbi request reprint Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami"
    O Giray Bozkaya
    Dokuz Eylul University, Faculty of Medicine, Department of Pediatrics, Division of Genetics, Inciralti Izmir, Turkey
    Genet Couns 24:405-16. 2013
    ..In their report; based on historical records and a small painting, they pointed "Mademoiselle Crachami" as the oldest known case...
  2. ncbi request reprint Rhizomelia with anal atresia and anophthalmia: a new syndrome?
    Giray Ozlem
    Department of Pediatrics, Division of Genetics, DEU Genetic Diagnosis Center, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
    Clin Dysmorphol 17:53-6. 2008
    ..Clinical and postmortem findings did not match any previously described syndromes with the type of anomalies seen in this patient. We suggested that this combination of congenital malformations might represent a new syndrome...
  3. doi request reprint Clinical and morphological phenotype of geleophysic dysplasia
    Ozlem Giray
    Division of Genetics, Department of Pediatrics, Dokuz Eylul University, Yzmir, Turkey
    Ann Trop Paediatr 28:161-4. 2008
    ..He required aortic and mitral valve replacement but, unfortunately, died of a severe pulmonary infection in the post-operative period. The condition has to be differentiated from lysosomal storage disorders such as mucopolysaccharidosis...
  4. ncbi request reprint A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy
    Aycan Unalp
    Division of Pediatric Neurology, Behçet Uz Child Disease and Pediatric Surgery Research and Educational Hospital, and Department of Pediatrics, School of Medicine, Dokuz Eylul University, Izmir, Turkey
    Pediatr Neurol 37:140-3. 2007
    ..Here we describe and discuss this patient, who initially presented with myoclonic seizures but then had a progression toward resistant epilepsy, along with electroencephalographic findings specific to Wolf-Hirschhorn syndrome...
  5. doi request reprint Role of apolipoprotein E in febrile convulsion
    Ozlem Giray
    Division of Genetics, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey
    Pediatr Neurol 39:241-4. 2008
    ..Although apolipoprotein E4 is not a vulnerability factor regarding febrile convulsions, it seems effective in regard to prognoses...
  6. ncbi request reprint Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy
    Ayfer Ulgenalp
    Department of Pediatrics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
    Turk J Pediatr 46:333-8. 2004
    ..A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature...
  7. ncbi request reprint An unusual case of monosomy 18p: minor malformations with speech delay
    Elçin Bora
    Divisions of Genetics, Department of Pediatrics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
    Turk J Pediatr 47:199-201. 2005
    ..Cytogenetic studies revealed de novo 45,XY del (18) t(18;21)-21 karyotype, which was confirmed by fluorescence in situ hybridization (FISH)...
  8. ncbi request reprint Congenital cardiac defects with 22q11 deletion
    Ozlem Giray
    Department of Pediatric Genetics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey
    Turk J Pediatr 45:217-20. 2003
    ..Microdeletion of 22q11 was detected in seven of 36 patients (19.4%), and in all deleted cases cardiac pathology was conotruncal...