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Öğe 16p13.11 microduplication in a patient with seizures: A case report about an elusive syndrome(Springernature, 2020) Yildirim, M. S.; Arslan, A. B.; Zamani, A. G.[Abstract Not Availabe]Öğe A Case of Fertile Man With Lack of AmelogeninY Locus(Nature Publishing Group, 2018) Somuncu, M. N.; Zamani, A. G.; Goktas, E.; Acar, A.; Yildirim, M. S.[Abstract Not Availabe]Öğe A case of interstitial 6q21-q22.31 deletion with dysmorphic features(Nature Publishing Group, 2019) Goktas, E.; Eray, S.; Yildirim, M. S.[Abstract Not Availabe]Öğe Derivative chromosome 10 in two siblings with dysmorphism: Significance of parental karyotyping(Nature Publishing Group, 2018) Goktas, E.; Zamani, A. G.; Somuncu, M. N.; Bulut, C.; Yildirim, M. S.[Abstract Not Availabe]Öğe Determination of whole genome expression differences in larynx cancers and clinical significance(Nature Publishing Group, 2018) Goktas, E.; Yildirim, M. S.; Ozturk, K.; Zamani, A. G.[Abstract Not Availabe]Öğe Evaluation of death pathway genes FAS and FASL polymorphisms in chronic HBV infection(Wiley-Blackwell, 2013) Zamani, A. G.; Barlas, I. O.; Durakbasi-Dursun, G.; Ural, O.; Erdal, E.; Yildirim, M. S.This study was designed to determine the possible asssociation between selected FAS and FASLG polymorphisms and Hepatitis B virus (HBV) infection. FAS-670 G/A, FAS-1377 G/A, FASLG-844 T/C and FASLGIVS2nt-124 A/G polymorphisms were genotyped by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). A total of age and sex matched 108 controls and a hundred chronic HBV patients were recruited to conduct a case-control study. FAS-670 polymorphism was associated with chronic HBV infection (P=0.03) FAS-1377 GG, GA and AA genotypes among the cases (90%, 5% and 5%, respectively) were significantly different from those among the controls (68%, 31.5% and 5.6%; P=0.00). FASLG-844 allele distribution was similar between the groups (P=0.17) but TC genotype (67.3%) was frequent in chronic HBV patients, while CC genotype was found significantly higher (29.6%) in controls. No association between FASLGIVS2nt-124 polymorphism and chronic HBV infection could be identified (P=0.55). FAS-670 polymorphism is associated with chronic HBV infection, while FASLGIVS2nt-124 A/G polymorphism is not. The FAS-1377G/A and FASLG-844 T/C genotypes are likely to play a substantial role in HBV infection. Further studies evaluating polymorphisms in other genes related with apoptosis are needed to elucidate the role of genetic variation in HBV infection.Öğe GENETIC EVALUATION OF AN INFERTILE MALE WITH A RING Y CHROMOSOME AND SHOX DELETION(Medecine Et Hygiene, 2013) Zamani, A. G.; Tuncez, E.; Yildirim, M. S.; Acar, A.[Abstract Not Availabe]Öğe Investigation of telomerase activity in ulcerative colitis and colorectal cancer patients(Nature Publishing Group, 2019) Duman, T. Akin; Yildirim, M. S.; Cakir, M.; Ataseven, H.; Zamani, A. G.[Abstract Not Availabe]Öğe K-ras oncogene mutation in pterygium(Nature Publishing Group, 2017) Ozturk, B. T.; Yildirim, M. S.; Zamani, A.; Bozkurt, B.Purpose Pterygium is claimed to be a benign proliferation triggered by prolonged exposure to ultraviolet radiation. The frequency of K-ras oncogene mutation, which is among the initial mutations in tumorigenesis, is evaluated in this study. Patients and methods In this prospective randomized clinical, trial pterygium tissues and normal conjunctiva tissue specimens are obtained from the superotemporal quadrant of patients who underwent primary pterygium excision with autograft transplantation. DNA extraction from tissues was performed using the QIAamp DNA FFPE tissue kit. A PCR reaction was performed to amplify sequences containing codons 12, 13, and 61 of the K-ras gene in DNA. These PCR products then underwent the ` pyrosequencing' procedure for mutations at these codons. Results Pterygium and normal conjunctival tissue samples of 25 patients (10 females, 15 males) were evaluated in the study. The mean age of the patients was 54.54 +/- 13.13 years. Genetic analysis revealed no K-ras mutations in normal conjunctival tissues, whereas pterygium tissues of the same cases demonstrated mutation at codon 12 in one case and mutations at codon 61 in seven cases, which was statistically significant (P<0.05). The point missense mutations at codon 61 were glutamine to arginine (Glu61Arg CAA>CGA) in four cases and glutamine to leucine (Glu61Leu CAA>CTA) in three cases. Conclusion The significantly higher frequency of codon 61 mutation of the ras oncogene in primary and bilateral pterygium specimens compared with normal conjunctiva supports the tumoral origin of pterygium, and thus set the stage for research into a targeted therapy for pterygium with better outcomes than surgical excision.Öğe May being a carrier of CAH lead to phenotypic variability in PAIS?(Nature Publishing Group, 2019) Somuncu, M. N.; Zamani, A. G.; Eklioglu, B. S.; Yildirim, M. S.[Abstract Not Availabe]Öğe A Novel Mutation Of Androgen Receptor Gene In A Primary Amenorrhoea Patient(Nature Publishing Group, 2018) Zamani, A. G.; Somuncu, M. N.; Goktas, E.; Gezginc, K.; Yildirim, M. S.[Abstract Not Availabe]Öğe A novel translocation of t(2;14)(q31;q32) in B-cell precursor acute lymphoblastic leukemia(Nature Publishing Group, 2019) Yildirim, M. S.; Ceneli, O.; Simsek, L.; Zamani, A. G.[Abstract Not Availabe]Öğe A novel variation in a patient with Sjogren-Larsson syndrome(Nature Publishing Group, 2019) Metli, K.; Zamani, A. G.; Ceylaner, S.; Yildirim, M. S.[Abstract Not Availabe]Öğe A novel variation in SCN2A gene in a patient with Dravet syndrome(Nature Publishing Group, 2019) Zamani, A. G.; Simsek, L.; Caksen, H.; Yildirim, M. S.[Abstract Not Availabe]Öğe A rare case in literature: isochromosome Xq in Klinefelter syndrome(Nature Publishing Group, 2019) Simsek, L.; Zamani, A. G.; Taskapu, H. H.; Yildirim, M. S.[Abstract Not Availabe]Öğe Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system(Funpec-Editora, 2013) Zamani, A. G.; Acar, A.; Yildirim, M. S.The purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 patients were analyzed. Genomic DNA from 304 patients was tested for 6 common mutations located in exon 2 (E148Q), and exon 10 (M680I, M694V, M694I, V726A, R761H) by real-time PCR while 1275 patients were tested for 17 mutations located in exon 2 (E148Q), and exon10 [M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, S675N, G678E, M680L, T681I, M694L, K695M, R717S, I720M, V722M] by pyrosequencing. The most frequent mutation was M694V, followed by M680I, E148Q, and V726A. Ten mutations in the panel were not detected in any patients. Finally, we compared our results with those of other centers in Turkey to contribute to the identified spectrum of Turkish MEFV mutations and we discuss which MEFV mutations are informative for evaluating an FMF patient.Öğe WARBURG MICRO SYNDROME IN TWO CHILDREN FROM A HIGHLY INBRED TURKISH FAMILY(Medecine Et Hygiene, 2012) Yildirim, M. S.; Zamani, A. G.; Bozkurt, B.Warburg micro syndrome in two children from a highly inbred Turkish family: Warburg Micro syndrome (WMS) was first reported by Warburg in 1993. The cardinal features are microcephaly, microphthalmia, congenital cataract and intellectual disability. We report on two children from a highly inbred family with microcephaly, congenital cataract, optic atrophy, hypotonia and severe psychomotor retardation. This phenotype is similar to other reported rare entities and especially to the family reported by Warburg. Four other children in the same family may also have been affected. In this report, the symptoms and features of our cases are compared with the Warburg Micro syndrome patients in literature.
