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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 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 Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis(Elsevier Science Bv, 2018) Sılan, Fatma; Karakaya, Taner; Bir, Firdevs Dincsoy; Paksoy, Baris; Özdemir, Öztürk[Anstract Not Available]Öğe Microtia, micrognati, facial dysmorphism, short stature and mental retardation: A rare case with Meirer-Gorlin syndrome(Elsevier Science Bv, 2015) Paksoy, Baris; Sılan, Fatma; Yildiz, Onur; Özdemir, Öztürk; Tas, Zafer Tuna[Anstract Not Available]Öğe 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 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 The prevelance of human papillomavirus (HPV) genotypes detected by PCR in women with normal and abnormal cervico-vaginal cytology(Via Medica, 2018) Beyazit, Fatma; Sılan, Fatma; Gencer, Meryem; Aydin, Buket; Paksoy, Baris; Unsal, Mesut A.; Özdemir, ÖztürkObjectives: Cervical cancer is the second most common type of cancer for women worldwide with a great proportion proved to be related to human papillomavirus (HPV) infection. As infection with HPV is the strongest risk factor for cervical neoplasia, detection of HPV genotypes in cervical and vaginal specimens of women with normal and abnormal cytology seems to be of paramount importance in cervical cancer screening. The objective of the study is to evaluate the prevalence and HPV genotypes among women with normal or abnormal Pap smear tests. Material and methods: This retrospective study was conducted in a tertiary care university hospital in western Turkey. A total of 201 patients in whom both HPV typing and Pap test was performed between 2012 and 2016 in our obstetrics and gynecology department were enrolled in this study. Clinical and laboratory data were obtained for all participants. Cervical smears of the patients were classified by the Bethesda system and HPV analyses were done using the polymerase chain reaction (PCR) method. Results: This study included 201 women, 72 of whom had normal and 129 of whom had abnormal Pap smear results. HPV DNA was detected in 91 (45.2%) of the 201 investigated women. Out of 72 patients with normal cervico-vaginal cytology, HPV positivity was detected in 35 (49%) patients, whereas 33 (35%) patients out of 94 with ASCUS, 18 (62%) patients out of 29 with LSIL and 5 (83%) patients out of 6 with HSIL had HPV positivity. Out of 35 HPV positive women that had normal pap test results, 25 (75%) were found to have high risk HPV (HR-HPV) genotypes. In women with ASCUS, LSIL and HSIL, HR-HPV genotype rates were found to be 94%, 89% and 100% respectively. The most common identified HPV types were HPV58, HPV16, HPV31, HPV33, HPV11 and HPV35. Conclusions: The frequency of HPV infection was found to be higher in our study compared to previous reports. Moreover, although HR-HPV genotypes were also detected in patients with normal cervical cytology, a majority of patients with HR-HPV genotypes were associated with abnormal cervical smear cytology including high rates of atypical squamous cells of undetermined significance, low-grade squamous intraepithelial lesion, and high-grade squamous intraepithelial lesion.
