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Öğe A father born to consanguineous parents had double translocation 21;22 [44,XY, t(21q;22q), t(21q;22q)] due to familial translocation in four generations(2001) Gündüz C.; Özkınay F.; Çogulu Ö.; Sapmaz G.; Çankaya T.; Özkınay C.[No abstract available]Öğe Genetic counselling in Feingold syndrome and a novel mutation(Editions Medecine et Hygiene, 2016) Atik T.; Güvenç M.S.; Onay H.; Özkınay E.; Çogulu Ö.Feingold syndrome (FS) is an autosomal dominant hereditary disorder characterised by finger and toe abnormalities, microcephaly, facial dysmorphism, gastrointestinal atresias such primarily as oesophageal and/or duodenal atresia and mild to moderate mental retardation. Approximately 60% of cases have an affected parent. MYCN is the only gene in which mutations are known to cause FS. In this report, we present a case with Feingold Syndrome having a novel mutation in MYCN gene and discuss genetic counselling and prenatal diagnosis due to pregnancy of the patient's mother.Öğe The molecular mechanisms of mitosis and meiosis: Review [Mitoz ve mayozun moleküler temelleri](Turkiye Klinikleri, 2007) Çogulu Ö.; Alpman A.; Durmaz B.; Özkınay F.In order to understand the function of the cell, which is the basic unit of human organism, the fundamentals of cell replication should be elucidated. Cell cycle checkpoints work in balance during the cell division process. The most important step in cell replication is to copy its own genetic material. During replication, mitosis lasts only 1 hour whereas 95% of the cell cycle process comprises the interphase. G1, S, G2 and M phases of the cell cycle are strictly controlled by the cell itself. Cell cycle checkpoints are sensitive to and control the errors that occur during the replication process, misegregation of the chromosomes, errors in DNA replication and any other errors that can occur during replication, thus maintaining the cell cycle. The molecules that have a role in the cell cycle and mitosis such as MPF (maturation promoting factor), cyclines and cell cycle inhibitors have very important functions, and proper maintenance of the cell cycle depends on the interaction between them. On the other hand, interaction between the different growth factors and cyclins during the switch to silent phase, the cell cycle inhibitors (p21 and TGF-ß) during the termination of the cell cycle, and the tumor suppressor genes (p53 and Rb) have major roles in the maintenance of the cell cycle. DNA packaging, chromosome condensation, formation of mitotic spindle and cytokinesis are under control during mitosis. In this review, the steps in mitosis and meiosis, the control points and the functions of major modulator molecules during the cell cycle are broadly reviewed with referral to recent findings. Copyright © 2007 by Türkiye Klinikleri.Öğe A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II [2](2005) Çogulu Ö.; Yilmaz D.; Özkınay F.; Kavakli K.; Roos D.[No abstract available]Öğe A rare sex chromosome aneuploidy: 48,XXYY syndrome [Nadir bir seks kromozom bozukluğu: 48,XXYY sendromu](Galenos, 2016) Atik T.; Çogulu Ö.; Özkınay F.48,XXYY syndrome is a rare sex chromosome abnormality. Although some physical features are similar to Klinefelter syndrome(47,XXY), 48,XXYY is typically associated with different neuropsyhciatric symptoms and phenotypic findings. Approximately 100 cases with 48,XXYY have been reported to date. In this report, a patient who was diagnosed with 48,XXYY syndrome with clincal evaluation and cytogenetic analysis is presented. A 6-year old male patient was hospitalized due to recurrent respiratory tract infections, recurrent abdominal distention and dyspepsia. He was the first and only child of nonconsanguineous parents. He had a history of mild developmental retardation. In his history, it was learned that he received treatment for gastroesophageal reflux and his symptoms improved with treatment. On physical examination, his weight was found to be 31 kg (>97 centile) and his height was found to be 123 cm (90 centile). He had upslanted palpebral fissures, depressed nasal bridge, long philtrum, incomplete cleft lip and micrognathia. Clinodactilia was found in the fifth fingers in both hands and large big toes and adduction in the second and third toes were found in both feet. Karyotype analysis showed a chromosomal composition of 48,XXYY. The patient presented here is the second Turkish case of 48,XXYY syndrome. © 2016 by Turkish Pediatric Association.Öğe The second case with 47, XY, + 8 [38] / 45, XO [12] karyotype(2002) Çogulu Ö.; Tirpan C.; Özkınay F.; Gündüz C.; Özkınay C.[No abstract available]
