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Öğe The development of a fast newborn screening method for common neonatal metabolic disorders based on nanopore sequencing technology(Nature Publishing Group, 2019) Onay, H.; Akgun, B.; Yalcinkaya, T.; Dilsizoglu, E.; Kaya, A. B.; Tasar, O.; Atik, T.[No abstract available]Öğe HOXC4 gene is possibly responsible for Lin-Gettig syndrome(Nature Publishing Group, 2018) Atik, T.; Isik, E.; Ozen, S.; Akgun, B.; Onay, H.; Cogulu, O.; Ozkinay, F.[No Abstract Available]Öğe MUTATION ANALYSIS OF THE NRXN1 GENE IN AUTISM SPECTRUM DISORDERS(Macedonian Acad Sciences Arts, 2016) Onay, H.; Kacamak, D.; Kavasoglu, A. N.; Akgun, B.; Yalcinli, M.; Kose, S.; Ozbaran, B.The aim of this study was to identify the sequence mutations in the Neurexin 1 (NRXN1) gene that has been considered as one of the strong candidate genes. A total of 30 children and adolescents (aged 3-18) with non syndromic autism were enrolled this study. Sequencing of the coding exons and the exon-intron boundaries of the NRXN1 gene was performed. Two known mutations were described in two different cases. Heterozygous S14L was determined in one patient and heterozygous L748I was determined in another patient. The S14L and L748I mutations have been described in the patients with autism before. Both of these mutations were inherited from their father. In this study, two of 30 (6.7%) autism spectrum disorder (ASD) patients carrying NRXN1 gene mutations were detected. It indicates that variants in the NRXN1 gene might confer a risk of developing nonsyndromic ASD. However, due to the reduced penetrance in the gene, the causal role of the NRXN1 gene mutations must be evaluated carefully in all cases.Öğe The mutation spectrum of DHCR7 gene and two novel mutations(Nature Publishing Group, 2018) Isik, E.; Onay, H.; Akgun, B.; Atik, T.; Aykut, A.; Durmaz, A.; Elmas, M.[No Abstract Available]Öğe Mutation spectrum of F8 gene in Turkish hemophilia A patients: identification of 14 novel mutations(Wiley, 2018) Atik, T.; Isik, E.; Akgun, B.; Onay, H.; Kavakli, K.; Ozbek, N. Y.; Evim, M.; Balkan, C.; Gunes, A. M.; Culha, V.; Unal, E.; Belen, F. B.; Sahin, F.; Özkınay, FerdaÖğe A NOVEL MOLECULAR INDICATOR FOR INHIBITOR DEVELOPMENT IN HEMOPHILIA A(Wiley, 2020) Atik, T.; Mehdiyeva, H.; Akgun, B.; Özkınay, Ferda; Kavakli, K.[No abstract available]Öğe POU1F1 and PROP1 gene mutations in 4 cases of combined pituitary hormone deficiency(Nature Publishing Group, 2018) Cengisiz, Z. Karademir; Akgun, B.; Isik, E.; Darcan; Atik, T.; Aykut, A.; Ozkinay, F.[No Abstract Available]Öğe A single center experience in Turkey in the molecular diagnosis of Hemophilia B(Nature Publishing Group, 2019) Isik, E.; Akgun, B.; Kavakli, K.; Sahin, F.; Evim, M. S.; Albayrak, C.; Atik, T.[No abstract available]