المساهمون: Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., orcid:0000-0002-9802-0880, Temel, Şehime, AAG-8385-2021, 6507885442

مصطلحات موضوعية: Variants, Azoospermia, Genetics & heredity, Adult, Alleles, Animals, Cell cycle checkpoints, Homozygote, Humans, Infertility, male, Meiosis, Mice, Mutation, Phenotype, Proteins, Spermatogenesis, Spermatozoa, Testis, Turkey, Whole exome sequencing, Male Infertility, Y Chromosome, Meiosis 1 arresting protein, mouse, Protein, Allele, Article, Cryptozoospermia, Disease severity

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; KUAP(T)-2014/36; American Journal of Human Genetics; Yurt içi; Yurt dışı; Sanayi; Wyrwoll, M. J. vd. (2020). "Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility". American Journal of Human Genetics, 107(2), 342-351.; https://doi.org/10.1016/j.ajhg.2020.06.010Test; https://www.sciencedirect.com/science/article/pii/S0002929720301981Test; http://hdl.handle.net/11452/30096Test; 000558491800014; 2-s2.0-85088861386; 341; 351; 107

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.010Test
http://hdl.handle.net/11452/30096Test
https://www.sciencedirect.com/science/article/pii/S0002929720301981Test

المساهمون: Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., orcid:0000-0002-9802-0880, Temel, Şehime, AAG-8385-2021, 6507885442

مصطلحات موضوعية: Variants, Azoospermia, Genetics & heredity, Adult, Alleles, Animals, Cell cycle checkpoints, Homozygote, Humans, Infertility, male, Meiosis, Mice, Mutation, Phenotype, Proteins, Spermatogenesis, Spermatozoa, Testis, Turkey, Whole exome sequencing, Male Infertility, Y Chromosome, Meiosis 1 arresting protein, mouse, Protein, Allele, Article, Cryptozoospermia, Disease severity

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; KUAP(T)-2014/36; American Journal of Human Genetics; Yurt içi; Yurt dışı; Sanayi; Wyrwoll, M. J. vd. (2020). "Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility". American Journal of Human Genetics, 107(2), 342-351.; https://doi.org/10.1016/j.ajhg.2020.06.010Test; https://www.sciencedirect.com/science/article/pii/S0002929720301981Test; http://hdl.handle.net/11452/30096Test; 000558491800014; 2-s2.0-85088861386; 341; 351; 107

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.010Test
http://hdl.handle.net/11452/30096Test
https://www.sciencedirect.com/science/article/pii/S0002929720301981Test

المؤلفون: Sayan, Murat, Sargın, Fatma, İnan, Dilara, Sevgi, Dilek Y., Çelikbaş, Aysel K., Yaşar, Kadriye, Kaptan, Figen, Kutlu, Selda, Fışgın, Nuriye T., İnci, Ayşe, Ceran, Nurgül, Karaoğlan, İlkay, Çağatay, Atahan, Çelen, Mustafa K., Koruk, Suda T., Ceylan, Bahadir, Yıldırmak, Taner, Korten, Volkan, Willke, Ayşe

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Enfeksiyon Hastalıkları Anabilim Dalı., Akalın, Halis, AAU-8952-2020, 57207553671

مصطلحات موضوعية: Immunology, Infectious diseases, Virology, HIV-1-infected persons, Surveillance, Therapy, Recommendations, Epidemiology, Update, Adult, Anti-HIV agents, CD4 lymphocyte count, Drug resistance, viral, Female, Gene expression, HIV infections, HIV protease, HIV protease inhibitors, HIV reverse transcriptase, HIV-1, Humans, Male, Mutation, Prevalence, Reverse transcriptase inhibitors, RNA, Turkey, Pol Genes, Human Immunodeficiency Virus 1

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; AIDS Research and Human Retroviruses; Yurt içi; Yurt dışı; Sanayi; Sayan, M. vd. (2016). "HIV-1 transmitted drug resistance mutations in newly diagnosed antiretroviral-naive patients in Turkey". AIDS Research and Human Retroviruses, 32(1), 26-31.; https://doi.org/10.1089/aid.2015.0110Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692107Test/; http://hdl.handle.net/11452/29626Test; 000367335100005; 2-s2.0-84954092536; 26; 31; 32

الإتاحة: https://doi.org/10.1089/aid.2015.0110Test
http://hdl.handle.net/11452/29626Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692107Test/

المؤلفون: Sayan, Murat, Sargın, Fatma, İnan, Dilara, Sevgi, Dilek Y., Çelikbaş, Aysel K., Yaşar, Kadriye, Kaptan, Figen, Kutlu, Selda, Fışgın, Nuriye T., İnci, Ayşe, Ceran, Nurgül, Karaoğlan, İlkay, Çağatay, Atahan, Çelen, Mustafa K., Koruk, Suda T., Ceylan, Bahadir, Yıldırmak, Taner, Korten, Volkan, Willke, Ayşe

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Enfeksiyon Hastalıkları Anabilim Dalı., Akalın, Halis, AAU-8952-2020, 57207553671

مصطلحات موضوعية: Immunology, Infectious diseases, Virology, HIV-1-infected persons, Surveillance, Therapy, Recommendations, Epidemiology, Update, Adult, Anti-HIV agents, CD4 lymphocyte count, Drug resistance, viral, Female, Gene expression, HIV infections, HIV protease, HIV protease inhibitors, HIV reverse transcriptase, HIV-1, Humans, Male, Mutation, Prevalence, Reverse transcriptase inhibitors, RNA, Turkey, Pol Genes, Human Immunodeficiency Virus 1

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; AIDS Research and Human Retroviruses; Yurt içi; Yurt dışı; Sanayi; Sayan, M. vd. (2016). "HIV-1 transmitted drug resistance mutations in newly diagnosed antiretroviral-naive patients in Turkey". AIDS Research and Human Retroviruses, 32(1), 26-31.; https://doi.org/10.1089/aid.2015.0110Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692107Test/; http://hdl.handle.net/11452/29626Test; 000367335100005; 2-s2.0-84954092536; 26; 31; 32

الإتاحة: https://doi.org/10.1089/aid.2015.0110Test
http://hdl.handle.net/11452/29626Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692107Test/

المؤلفون: Fierabracci, Alessandra, Pellegrino, Marsha, Frasca, Federica, Betterle, Corrado

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., orcid:0000-0001-8571-2581, Kılıç, Sara Şebnem, AAH-1658-2021, 34975059200

مصطلحات موضوعية: Immunology, APECED-AIRE gene-genotype-phenotype variability-Turkish population, Candidiasis-ectodermal dystrophy, Polyendocrine syndrome type-1, Syndrome type-l, Autoimmune regulator aire, Polyglandular syndrome type-1, Primary immunodeficiency, Clinical-manifestations, Europen patients, Addisons-disease, Follow-up, Adult, Candidiasis, chronic mucocutaneous, Child, Female, Humans, Male, Mutation, Phenotype, Polyendocrinopathies, autoimmune, Retrospective studies, Turkey, Young adult, Type 1 Autoimmune Polyendocrinopathy Syndrome, Regulator, Central Tolerance, Carboxylyase

العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical Immunology; Yurt dışı; Sanayi; Fierabracci, A. vd. (2018). ''APECED in Turkey: A case report and insights on genetic and phenotypic variability''. Clinical Immunology, 194, 60-66.; https://www.sciencedirect.com/science/article/pii/S1521661617307854Test; https://hdl.handle.net/11452/40649Test; 000442714000008; 2-s2.0-85049441932; 60; 66; 194; https://doi.org/10.1016/j.clim.2018.06.012Test

الإتاحة: https://doi.org/10.1016/j.clim.2018.06.012Test
https://hdl.handle.net/11452/40649Test
https://www.sciencedirect.com/science/article/pii/S1521661617307854Test

المؤلفون: Gül, Cuma Bülent

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Endokrinoloji ve Metabolizma Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/İmmünoloji Anabilim Dalı., orcid:0000-0001-7625-9148, orcid:0000-0003-0463-6818, Gül, Özen Öz, Cander, Soner, Budak, Ferah, Oral, Barbaros, Ersoy, Canan, AAI-1005-2021, F-4657-2014, K-7285-2012, AAH-8861-2021, 26040787100, 25027068600, 6701913697, 7004498001, 6701485882

مصطلحات موضوعية: Obstetrics & gynecology, Polycystic ovary syndrome, Cytokine signalling, SOCS1 polymorphism, Insulin resistance, Women, Prevalence, Expression, Variants, Proteins, Glucose, Obesity, Health, Adult, Body mass index, Case-control studie, Cholesterol, LDL, Female, Gene frequency, Humans, Logistic models, Middle aged, Polymerase chain reaction, Polymorphism, Genetic, Premenopause, Suppressor of cytokine signaling 1 protein, Triglycerides, Turkey

العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Obstetrics and Gynaecology; Sanayi; Gül, Ö. Ö. vd. (2017). ''Cytokine signal suppressor (SOCS) 1-1478 CA/del gene polymorphism in Turkish patients with polycystic ovary syndrome''. Journal of Obstetrics and Gynaecology, 37(7), 896-901.; https://doi.org/10.1080/01443615.2017.1309011Test; http://hdl.handle.net/11452/31884Test; 000411307000012; 2-s2.0-85020197942; 896; 901; 37

الإتاحة: https://doi.org/10.1080/01443615.2017.1309011Test
http://hdl.handle.net/11452/31884Test

المؤلفون: Sarı, Esin Söğütlü, Yazıcı, Alper, Eser, Betül, Erol, Muhammet Kazım, Kılıç, Adil, Ermiş, Sıtkı Samet, Koytak, Arif, Akşıt, Hasan

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Yakut, Tahsin, 6602802424

مصطلحات موضوعية: 4G/5G polymorphism of PAI-1 gene, Central serous chorioretinopathy, Serum PAI-1 level, Promoter, Abnormalities, Risk, Ophthalmology, Toxicology, Adult, Female, Gene frequency, Genotype, Humans, Male, Middle aged, Plasminogen activator inhibitor 1, Polymorphism, genetic, Prevalence, Risk factors, Turkey, Central Serous Retinopathy, Fluorescence Angiography, Verteporfin, Genomic DNA, SERPINE1 protein, human, Article, Body mass, Clinical article

العلاقة: Makale - Uluslararası Hakemli Dergi; Cutaneous and Ocular Toxicology; Yurt içi; Sanayi; Sarı, E. S. vd. (2014). "The prevalence of 4G/5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in central serous chorioretinopathy and its association with plasma PAI-1 levels". Cutaneous and Ocular Toxicology, 33(4), 270-274.; 556-9535; https://doi.org/10.3109/15569527.2013.854372Test; http://hdl.handle.net/11452/27175Test; 000345498400002; 2-s2.0-84912100853; 270; 274; 33

الإتاحة: https://doi.org/10.3109/15569527.2013.854372Test
http://hdl.handle.net/11452/27175Test

المؤلفون: Sarı, Esin Söğütlü, Yazıcı, Alper, Eser, Betül, Erol, Muhammet Kazım, Kılıç, Adil, Ermiş, Sıtkı Samet, Koytak, Arif, Akşıt, Hasan

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Yakut, Tahsin, 6602802424

مصطلحات موضوعية: 4G/5G polymorphism of PAI-1 gene, Central serous chorioretinopathy, Serum PAI-1 level, Promoter, Abnormalities, Risk, Ophthalmology, Toxicology, Adult, Female, Gene frequency, Genotype, Humans, Male, Middle aged, Plasminogen activator inhibitor 1, Polymorphism, genetic, Prevalence, Risk factors, Turkey, Central Serous Retinopathy, Fluorescence Angiography, Verteporfin, Genomic DNA, SERPINE1 protein, human, Article, Body mass, Clinical article

العلاقة: Makale - Uluslararası Hakemli Dergi; Cutaneous and Ocular Toxicology; Yurt içi; Sanayi; Sarı, E. S. vd. (2014). "The prevalence of 4G/5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in central serous chorioretinopathy and its association with plasma PAI-1 levels". Cutaneous and Ocular Toxicology, 33(4), 270-274.; 556-9535; https://doi.org/10.3109/15569527.2013.854372Test; http://hdl.handle.net/11452/27175Test; 000345498400002; 2-s2.0-84912100853; 270; 274; 33

الإتاحة: https://doi.org/10.3109/15569527.2013.854372Test
http://hdl.handle.net/11452/27175Test

المؤلفون: Özçimen, Ahmet Ata

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Mikrobiyoloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Nefroloji ve Romatoloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Fiziksel Tıp ve Rehabilitasyon Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Dermatoloji Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Psikiyatri Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı., orcid:0000-0003-0463-6818, orcid:0000-0003-4436-3797, Dilek, Kamil, Bingöl, Ümit, Sarıcaoğlu, Hayriye, Sarandöl, Aslı, Taşkapılıoğlu, Özlem, Yurtkuran, Merih M., Yurtkuran, Mustafa Abbas, Oral, Haluk Barbaros, AAK-6623-2020, K-7285-2012, X-4479-2018, 56005080200, 6507727900, 6603722836, 14020405100, 23037226400, 55408539300, 7003389525, 7004498001

مصطلحات موضوعية: Genetics & heredity, Immunology, Interleukin-1 receptor antagonist, Inflammatory-bowel-disease, Ifn-gamma gene, In-vitro, Nucleotide-sequence, Cytokine production, Online databases, Long arm, Association, Risk, Adult, Behcet syndrome, Female, Gene frequency, Genetic predisposition to disease, Genotype, Humans, Interleukin-1, Male, Middle aged, Multigene Family, Polymorphism, genetic, single nucleotide, Turkey, Uveitis, Infliximab, Interleukin 1 receptor

العلاقة: Makale - Uluslararası Hakemli Dergi; T-2004/59; International Journal of Immunogenetics; Yurt içi; Özçimen, A. A. vd. (2011). "IL-1 cluster gene polymorphisms in Turkish patients with Behçet's disease". International Journal of Immunogenetics, 38(4), 295-301.; https://doi.org/10.1111/j.1744-313X.2011.01006.xTest; http://hdl.handle.net/11452/23505Test; 000292335800005; 2-s2.0-79959944004; 295; 301; 38

الإتاحة: https://doi.org/10.1111/j.1744-313X.2011.01006.xTest
http://hdl.handle.net/11452/23505Test

المؤلفون: Topaloğlu, Rezan, Baskın, Esra, Bahat, Elif, Kavukçu, Salih, Çakar, Nilgün, Güven, Ayfer Gür, Çalışkan, Salim, Erdoğan, Özlem, Yalçınkaya, Fatoş

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Nefroloji Anabilim Dalı., Dönmez, Osman, AAA-8778-2021, 19033971800

مصطلحات موضوعية: Urology & nephrology, Bartter's syndrome, Cystinosis, Demography, Failure to thrive, Features, Gitelman's syndrome, Hereditary renal tubular disorders, Prevalence, PRTA, Acidosis, Mutations, Deafness, Child, preschool, Consanguinity, Female, Humans, Infant, Kidney diseases, Kidney tubules, Male, Questionnaires, Turkey, Erythrocyte Anion Exchange Protein 1, Renal Tubular Acidosis, Kidney Calcification, Adolescent, Adult, Age distribution

العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical and Experimental Nephrology; Yurt içi; Sanayi; Topaloğlu, R. vd. (2011). "Hereditary renal tubular disorders in Turkey: Demographic, clinical, and laboratory features". Clinical and Experimental Nephrology, 15(1), 108-113.; https://doi.org/10.1007/s10157-010-0367-zTest; https://link.springer.com/article/10.1007/s10157-010-0367-zTest; http://hdl.handle.net/11452/24513Test; 000287452800016; 2-s2.0-79952196349; 108; 113; 15

الإتاحة: https://doi.org/10.1007/s10157-010-0367-zTest
http://hdl.handle.net/11452/24513Test