Yazar "Ozen, Y." seçeneğine göre listele
Listeleniyor 1 - 6 / 6
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe 17q22 microdeletion detected by array-CGH leading to NOG-related symphalangism spectrum disorder (NOG-SSD)(Nature Publishing Group, 2019) Atli, E.; Gurkan, H.; Atli, E. I.; Ozen, Y.; Eker, D.; Akurut, C.; Demir, S.[Abstract Not Available]Öğe Clinical results of chromosome 15 copy number variations(Springernature, 2020) Gurkan, H.; Atli, E.; Yalcintepe, S.; Atli, E.; Demir, S.; Ozen, Y.; Tozkir, H.[Abstract Not Available]Öğe Combined Partial Trisomy 7q and Partial Monosomy 21q in a 6 Year Old Male Patient Phenotypic and Genotypic Findings(Nature Publishing Group, 2019) Atli, E. I.; Gurkan, H.; Atli, E.; Ozen, Y.; Gorker, I.; Eker, D.; Akurut, C.[Abstract Not Available]Öğe Different phenotype with 22q13.3 deletion syndrome in two patients(Nature Publishing Group, 2019) Gurkan, H.; Atli, E.; Atli, E.; Demir, S.; Ozen, Y.; Tozkir, H.; Eker, D.[Abstract Not Available]Öğe INVESTIGATION OF THE RELATIONSHIP OF TNFRSF11A GENE POLYMORPHISMS WITH BREAST CANCER DEVELOPMENT AND METASTASIS RISK IN PATIENTS WITH BRCA1 OR BRCA2 PATHOGENIC VARIANTS LIVING IN THE TRAKYA REGION OF TURKEY(Macedonian Acad Sciences Arts, 2020) Ozdemir, K.; Gurkan, H.; Demir, S.; Atli, E.; Ozen, Y.; Sezer, A.; Tuncbilek, N.Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2. Therefore, it has been suggested that TNFRSF11A, which is among those modifying genes present in breast cancer development, may have a significant role in patients with positive BRCA1 or BRCA2 variations. In our study, we investigated the probable effects of single nucleotide polymorphisms (SNPs) in the TNFRSF11A gene, such as rs4485469, rs9646629, rs34739845, rs17069904, rs 884205, rs4941129 on the risk of breast cancer in patients with BRCA1 or BRCA2 variations. A total of 23 breast cancer patients with pathogenic variations in the BRCA1 or BRCA2 genes, 28 patients with no pathogenic variations in the BRCA1 or BRCA2 genes, and 55 healthy women as a control group, were included in this study. The SNPs were determined with allelic discrimination analysis through the real-time polymerase chain reaction (qPCR) method. There was no statistically significant difference between the SNPs of the TNFRSF11A gene rs4485469, rs9646629, rs34739845, rs17069904, rs884205, rs4941129 and metastasis, estrogen receptor, progesterone receptor and CerB2 receptor positivity between patient and control group (p >0.05). However, the rs4485469 SNP was found to be borderline significant between the patient groups with and without BRCA1 or BRCA2 mutations (p = 0.059). In patients with BRCA1 or BRCA2 pathogenic variations living in the Trakya region of Turkey, we could not determine the relationship between TNFRSF11 SNPs with breast cancer risk.Öğe p23.3 deletion and 16q23.2-q24.3 duplication detected by arrayCGH in a patient with intellectuel disability(Nature Publishing Group, 2019) Ozen, Y.; Gurkan, H.; Atli, E.; Atli, E. I.; Akurut, C.; Moustafa, N.; Demir, S.[Abstract Not Available]
