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Öğe A balanced non-reciprocal translocated case with recurrent abortions: The importance and validity of conventional cytogenetics analysis in balanced translocations detection when comparing to the MicroArray-CGH technique(Elsevier Science Bv, 2017) Özdemir, Öztürk; Urfali, Mine; Paksoy, Baris; Karakaya, Taner; Yildiz, Onur; Sılan, Fatma[Anstract Not Available]Öğe A mental and motor retarded case with derivative chromosome 8p rearrangements: Genotype-phenotype correlation in a case report(Elsevier Science Bv, 2017) Sılan, Fatma; Karakaya, Taner; Yildiz, Onur; Paksoy, Baris; Urfali, Mine; Özdemir, Öztürk[Anstract Not Available]Öğe Alterations in the telomere length distribution of cell-free DNA in human cancer(Elsevier Science Bv, 2016) Urfali, Mine; Sılan, Fatma; Tan, Yusuf Ziya; Celiker, Fatmanur; Guler, Zeliha; Özdemir, Öztürk[Anstract Not Available]Öğe Clinical and molecular characterization of SLC7A gene that located in 14q11.2 locus in a seconder infertile rare case with lysinuric protein intolerance(Elsevier Science Bv, 2017) Sılan, Fatma; Paksoy, Baris; Urfali, Mine; Karakaya, Taner; Özdemir, Öztürk[Anstract Not Available]Öğe High frequency of chromosomal anomalies and a novel chromosomal insertion associated with infertility and recurrent miscarriages (reproductive failure) in West Turkey(Gene Therapy and Molecular Biology, 2014) Sılan, Fatma; Yalcintepe, Sinem; Uysal, Digdem; Urfali, Mine; Uludağ, Ahmet; Cosar, Emine; Gungor, Ayse Nur CakirNumerical and/or structural chromosomal abnormalities may be a reason of high infertility rates and recurrent pregnancy losses (RPLs) in humans. Karyotype and karyogram profiles of patients with RPLs are presented in current results. A total of 722 patients; 161(44.5%) infertile and 200(55.5%) RPL couples were included in the study. Karyotype and structural chromosome analyses of both patient groups in Canakkale population were made between May 2011-December 2013, using peripheral lymphocyte cell culture and GTG banding technique. High frequency of chromosomal abnormalities(%7.45) were detected in 24 patients of the infertility group(n:322). 10 patients(42%) of this group(n:24) had numerical and 14 patients(58%) had balanced structural choromosomal abnormalities. A novel choromosomal insertion was found in an infertile male, one of the 22th choromosome was totally inserted in 9th choromosome [ins(9;22)(9pter-q12Öğe Importance of CYP450 genes rs16947, rs2740574 and rs776746 polymorphisms in colchicine resistance or side effects in FMF patients(Elsevier Science Bv, 2018) Sılan, Coşkun; Urfali, Mine; Özdemir, Öztürk; Sılan, Fatma[Anstract Not Available]Öğe Intercellular Adhesion Molecule-1 K469E and Angiotensinogen T207M Polymorphisms in Coronary Slow Flow(Karger, 2014) Gazi, Emine; Barutcu, Ahmet; Altun, Burak; Temiz, Ahmet; Bekler, Adem; Urfali, Mine; Sılan, FatmaObjective: To investigate intercellular adhesion molecule-1 (ICAM1) and angiotensinogen (AGT) gene polymorphisms, as related to atherosclerosis and endothelial dysfunction, in coronary slow flow (CSF). Subjects and Methods: The participants in this study were 48 patients with CSF and 67 patients with normal coronary flow as controls. The K469E polymorphism of ICAM1 (rs5498) and the T207M polymorphism of AGT (rs4762) were determined using the polymerase chain reaction amplification method. Results: Baseline demographic parameters were similar in both groups. The mean thrombolysis in myocardial infarction frame count was significantly higher in patients with CSF (23.8 +/- 5.1) compared to the controls (13.3 +/- 2.6, p < 0.001). A significant association was found between the ICAM1 K allele and CSF (OR: 1.96, 95% CI: 1.15-3.35, p = 0.013). There was no difference in the frequency of AGT T207M genotypes in the patients with CSF and the control subjects. Conclusion: This study showed that K469E polymorphisms of ICAM1 that play a role in atherosclerotic pathogenesis are related to CSF. (C) 2014 S. Karger AG, BaselÖğe The clinical, cytogenetics and molecular characterization of inverted duplication/deletion of chromosome 8p in a boy with mental and motor retardation: Genotype-phenotype correlation in a case report(Egyptian Society of Human Genetics, 2018) Sılan, Fatma; Bourouba, Romyla; Karakaya, Taner; Yildiz, Onur; Paksoy, Baris; Urfali, Mine; Özdemir, ÖztürkBackground: Rearrangements that occur mainly through the non-allelic homologous recombination (NAHR) during maternal meiosis in short arms of chromosome 8 is relatively associated with various clinical spectrum. Aim: The objective of this study was to report cytogenetics and molecular characterization of a mental and motor retarded boy with short arm of chromosome 8 rearrangements [invdupdel(8p)] in this current case report. Subjects and methods: We report an 11-year-old boy with scoliosis, intellectual disability, mental-motor retardation and characteristic facial features. Agenesis of corpus callosum was detected with brain Magnetic Resonance Imaging (MRI) analysis. Derivative chromosome 8 structure was identified after conventional cytogenetics – karyotype analysis, Multiplex Ligation-Dependent Probe Amplification (MLPA) and Microarray-based Comparative Genomic Hybridization (aCGH) techniques. Genotype-phenotype correlation in the current proband case will be discussed. Results: Case was diagnosed as 46, XY, der (8), del (8) (p23.1) invdup (8) (p11.1-p23.1) by using advanced comparable techniques. Subtelomeric MLPA analysis showed deletion of FBXO25 gene which is located at 8p23.3 locus and FISH with subtelomeric probes for 8p shows also only deleted region. The microarray-CGH profilling showed 7,9 mb deletion for 8p23.1 and 31 mb duplication for 8p11.1 locuses. Conclusion: Results from the current case emphasized that the cases with clinical manifestations of such disorders extremely need to be examined by combined comparable genetics techniques such as; karyotyping, FISH, MLPA and chromosomal microarray for the accurate phenotype – genotype correlation. © 2018Öğe The comparison of telomere length in cancer patients: Plasma, whole blood and tumor tissue(2021) Urfali, Mine; Sılan, Fatma; Urfalı, Furkan Ertürk; Gurgen, Atila; Özdemir, ÖztürkTelomer dysfunction triggers numerical and structural chromosomal instability and initiates tumorigenesis. Classical biopsies provide information about parts of tumor tissue, but cancer is divided into subgroups according to its mutational and behavioral characteristics. In this study, we aimed to investigate whether the results of cellfree-DNA were compatible with those obtained from tissues and to investigate whether cellfree-DNA telomere length is an alternative non-invasive method for the diagnosis of cancer. This study included the Q-PCR telomere measurement of tumor tissue, peripheral blood and plasma samples in patients with various cancers and peripheral blood and plasma samples of a control group. The telomeric DNA length and T/S ratios were calculated using the T/S ratio (2-??Ct) formula. The median value for the plasma relative T/S ratio of the cancer group was statistically significantly higher than control group. In the cancer group, the lowest relative T/S ratio was found in plasma samples. The mean T/S ratio of whole blood was higher than tumor tissue, and similarly the relative T/S ratio of tumor tissue was higher than plasma T/S ratio( whole blood>tumor tissue>cfDNA). In cancer patients, the longer telomere length suggests that plasma cellfree-DNA telomere length could be a new molecular marker in cancer diagnosis and follow-up.Öğe The comparison of telomeric DNA length in different biological materials in various cancers by real-time PCR amplification of circulating tumour DNA(Elsevier Science Bv, 2017) Urfali, Mine; Sılan, Fatma; Özdemir, Öztürk[Anstract Not Available]Öğe The microdeletion of 15q11.2 locus encompassing TUBGCP5, NIPA1, NIPA2, and CYFIP1 genes in an epileptic case with macrocephaly, attention-deficit/hyperactivity disorder (ADHD), speech and motor delay(Elsevier Science Bv, 2017) Özdemir, Öztürk; Yildiz, Onur; Karakaya, Taner; Paksoy, Baris; Urfali, Mine; Sılan, Fatma[Anstract Not Available]Öğe Variable R.Msp1 fragmentation in genomic DNA due to DNA hypomethylation in CRF patients with MTHFR C677Tgene polymorphism: From genetics to epigenetics(Gene Therapy and Molecular Biology, 2014) Özdemir, Öztürk; Sılan, Fatma; Urfali, Mine; Uludağ, Ahmet; Ari, Elif; Kayatas, MansurThe role of inflammation, hyperhomocysteinemia, germ-line genetic markers and epimutations haven't been understood completely in chronic renal failure (CRF). DNA methylation is a postreplicative modification mechanism that is strongly involved in the physiological control of epimutations and gene expression. In the current study it was aimed to find out the possible role of epigenetic alterations in renal failure due to functional MTHFR deficiency in CRF patients requiring long-term haemodialysis. Current cohort includes 228 CRF patients and 212 healthy individuals from same ethnicity. The MTHFR C677T SNP analysis was genotyped by real-time PCR analysis. Genomic DNA fragmentation sizes were correlated for wild, heterozygous and homozygous mutated CRF patients after methyl marker cognate enzyme of R.Msp1 digestion. The digested DNA fragmentation profiles were also compared by Scion Image histogram plot analysis. Increased T allele frequency was detected in CRF patients, the MTHFR 677TT genotype was found 6.1% and the T allele frequency 2.53-fold increased in CRF when compared with healthy individuals. Distinct global DNA methyl patterns that showed variable R.Msp1 fragmentations were also detected in current MTHFR gene mutated CRF patients. The current results indicate that individuals with germ-line MTHFR C677T mutations have a risk for CRF pathogenesis due to the reduced enzyme activity and global DNA hypomethylation that alters the allelic expression of distinct systemic genes. Results needs to be confirmed by a larger scale of sample size.
