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

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Enfeksiyon Hastalıkları ve Klinik Mikrobiyoloji Anabilim Dalı., Mıstık, Reşit, 6602564624

مصطلحات موضوعية: Infectious diseases, Baseline resistance, Hepatitis C virus, Mutation, Protease inhibitors, Genotype 1, Pegylated interferon, Antiviral agents, Virus genotypes, Ribavirin, Telaprevir, Simeprevir, Infection, Polymorphisms, Retreatment, Adult, Aged, 80 and over, Drug resistance, viral, Female, Genotype, Hepacivirus, Hepatitis C, chronic, Humans, Male, Middle aged, Oligopeptides, Proline

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; International Journal of Infectious Diseases; Yurt içi; Yurt dışı; Sanayi; Altunok, E. S. vd. (2016). "Protease inhibitors drug resistance mutations in Turkish patients with chronic hepatitis C". ed. Petersen, E. ve Denmark, A. International Journal of Infectious Diseases, 50, 1-5.; https://doi.org/10.1016/j.ijid.2016.07.003Test; https://www.sciencedirect.com/science/article/pii/S1201971216311109Test; http://hdl.handle.net/11452/29837Test; 000388326300001; 2-s2.0-84979254596; 50

الإتاحة: https://doi.org/10.1016/j.ijid.2016.07.003Test
http://hdl.handle.net/11452/29837Test
https://www.sciencedirect.com/science/article/pii/S1201971216311109Test

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/

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Enfeksiyon Hastalıkları ve Klinik Mikrobiyoloji Anabilim Dalı., Mıstık, Reşit, 6602564624

مصطلحات موضوعية: Infectious diseases, Baseline resistance, Hepatitis C virus, Mutation, Protease inhibitors, Genotype 1, Pegylated interferon, Antiviral agents, Virus genotypes, Ribavirin, Telaprevir, Simeprevir, Infection, Polymorphisms, Retreatment, Adult, Aged, 80 and over, Drug resistance, viral, Female, Genotype, Hepacivirus, Hepatitis C, chronic, Humans, Male, Middle aged, Oligopeptides, Proline

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; International Journal of Infectious Diseases; Yurt içi; Yurt dışı; Sanayi; Altunok, E. S. vd. (2016). "Protease inhibitors drug resistance mutations in Turkish patients with chronic hepatitis C". ed. Petersen, E. ve Denmark, A. International Journal of Infectious Diseases, 50, 1-5.; https://doi.org/10.1016/j.ijid.2016.07.003Test; https://www.sciencedirect.com/science/article/pii/S1201971216311109Test; http://hdl.handle.net/11452/29837Test; 000388326300001; 2-s2.0-84979254596; 50

الإتاحة: https://doi.org/10.1016/j.ijid.2016.07.003Test
http://hdl.handle.net/11452/29837Test
https://www.sciencedirect.com/science/article/pii/S1201971216311109Test

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: Mazza, Cinzia, Buzi, Fabio, Ortolani, Federica, Vitali, Alberto, Notarangelo, Lucia D., Weber, Giovanna, Bacchetta, Rosa, Soresina, Annarosa, Lougaris, Vassilios, Greggio, Nella A., Taddio, Andrea, Pasic, Srdjan, de Vroede, Monique, Pac, Malgorzata, Özden, Sanal, Rusconi, Roberto, Martino, Silvana, Capalbo, Donatella, Salerno, Mariacarolina, Pignata, Claudio, Radetti, Giorgio, Maggiore, Giuseppe, Plebani, Alessandro, Notarangelo, Luigi D., Badolato, Raffaele

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

مصطلحات موضوعية: Immunology, Autoimmunity, Candidiasis, Endocrinopathy, Regulator aire gene, Disease type-ı, Mutations, Autoantibodies, Protein, Common, Type-1, Adolescent, Adult, Child, preschool, Heterozygote, Homozygote, Humans, Middle aged, Mutation, Polyendocrinopathies, autoimmune, Time factors, Young adult, Type 1 Autoimmune Polyendocrinopathy Syndrome, Regulator, Central Tolerance, Autoimmune regulator protein, Article, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical Immunology; Sanayi; Yurt dışı; Yurt içi; Mazza, C. vd. (2011). "Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome". Clinical Immunology, 139(1), 6-11.; https://doi.org/10.1016/j.clim.2010.12.021Test; https://www.sciencedirect.com/science/article/pii/S1521661611000039Test; http://hdl.handle.net/11452/29433Test; 000289183500002; 2-s2.0-79953025343; 11; 139

الإتاحة: https://doi.org/10.1016/j.clim.2010.12.021Test
http://hdl.handle.net/11452/29433Test
https://www.sciencedirect.com/science/article/pii/S1521661611000039Test

المؤلفون: Mazza, Cinzia, Buzi, Fabio, Ortolani, Federica, Vitali, Alberto, Notarangelo, Lucia D., Weber, Giovanna, Bacchetta, Rosa, Soresina, Annarosa, Lougaris, Vassilios, Greggio, Nella A., Taddio, Andrea, Pasic, Srdjan, de Vroede, Monique, Pac, Malgorzata, Özden, Sanal, Rusconi, Roberto, Martino, Silvana, Capalbo, Donatella, Salerno, Mariacarolina, Pignata, Claudio, Radetti, Giorgio, Maggiore, Giuseppe, Plebani, Alessandro, Notarangelo, Luigi D., Badolato, Raffaele

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

مصطلحات موضوعية: Immunology, Autoimmunity, Candidiasis, Endocrinopathy, Regulator aire gene, Disease type-ı, Mutations, Autoantibodies, Protein, Common, Type-1, Adolescent, Adult, Child, preschool, Heterozygote, Homozygote, Humans, Middle aged, Mutation, Polyendocrinopathies, autoimmune, Time factors, Young adult, Type 1 Autoimmune Polyendocrinopathy Syndrome, Regulator, Central Tolerance, Autoimmune regulator protein, Article, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical Immunology; Sanayi; Yurt dışı; Yurt içi; Mazza, C. vd. (2011). "Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome". Clinical Immunology, 139(1), 6-11.; https://doi.org/10.1016/j.clim.2010.12.021Test; https://www.sciencedirect.com/science/article/pii/S1521661611000039Test; http://hdl.handle.net/11452/29433Test; 000289183500002; 2-s2.0-79953025343; 11; 139

الإتاحة: https://doi.org/10.1016/j.clim.2010.12.021Test
http://hdl.handle.net/11452/29433Test
https://www.sciencedirect.com/science/article/pii/S1521661611000039Test

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