Affiliation: Dokuz Eylul University
- 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...
- 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...
- Clinical and morphological phenotype of geleophysic dysplasiaOzlem 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...
- A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsyAycan 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...
- Role of apolipoprotein E in febrile convulsionOzlem 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...
- Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophyAyfer 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...
- An unusual case of monosomy 18p: minor malformations with speech delayElçin 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)...
- Congenital cardiac defects with 22q11 deletionOzlem 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...