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1دورية أكاديمية
المؤلفون: Liu, L., Okada, S., Kong, X.F., Kreins, A.Y., Cypowyj, S., Abhyankar, A., Toubiana, J., Itan, Y., Audry, M., Nitschke, P., Masson, C., Toth, B., Flatot, J., Migaud, M., Chrabieh, M., Kochetkov, T., Bolze, A., Borghesi, A., Toulon, A., Hiller, J., Eyerich, S., Eyerich, K., Gulácsy, V., Chernyshova, L., Chernyshov, V., Bondarenko, A., Grimaldo, R.M., Blancas-Galicia, L., Beas, I.M., Roesler, J., Magdorf, K., Engelhard, D., Thumerelle, C., Burgel, P.R., Hoernes, M., Drexel, B., Seger, R., Kusuma, T., Jansson, A.F., Sawalle-Belohradsky, J., Belohradsky, B., Jouanguy, E., Bustamante, J., Bué, M., Karin, N., Wildbaum, G., Bodemer, C., Lortholary, O., Fischer, A., Blanche, S., Al-Muhsen, S., Reichenbach, J., Kobayashi, M., Rosales, F.E., Lozano, C.T., Kilic, S.S., Oleastro, M., Etzioni, A., Traidl-Hoffmann, C., Renner, E.D., Abel, L., Picard, C., Maródi, L., Boisson-Dupuis, S., Puel, A., Casanova, J.L.
المصدر: J. Exp. Med. 208, 1635-1648 (2011)
مصطلحات موضوعية: hyper-ige syndrome, sequencing-based discovery, cd4(+) t-cells, th17 cells, inborn-errors, ifn-gamma, th17-associated cytokines, deficiency, disease, il-27
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21727188; info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/isbn/0022-1007; info:eu-repo/semantics/altIdentifier/p; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=3411Test; urn:isbn:0022-1007; urn:issn:0022-1007; urn:issn:1540-9538
الإتاحة: https://doi.org/10.1084/jem.20110958Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=3411Test -
2دورية أكاديمية
المؤلفون: Grant, Audrey V., Dupuis, Stephanie Boisson, Herquelot, Eleonore, de Beaucoudrey, Ludovic, Santos, Orchidee Filipe, Nolan, Daniel K., Feinberg, Jacqueline, Boland, Anne, Al-Muhsen, Saleh, Sanal, Özden, Çamcıoğlu, Yıldız, Palanduz, Ayşe, Bustamante, Jacinta, Casanova, Jean-Laurent, Abel, Laurent
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı., orcid:0000-0001-8571-2581, Kılıç, Sara Şebnem, AAH-1658-2021, 34975059200
مصطلحات موضوعية: Genetics & heredity, Sequencing-based discovery, Deficiency, Immunity, Mutation, Reveals, Family, Genetic heterogeneity, Genetic predisposition to disease, Genome-wide association study, Homozygote, Humans, Lod Score, Mycobacterium infections, Mycobacteriosis, BCG Vaccine, Interleukin 12 receptor beta1, Protein kinase TYK2, Article, Gene locus, Gene mapping, Gene mutation, Gene sequence, Genetic association, Genetic linkage, Genetic susceptibility, Genotype, Homozygosity, Human, Immune deficiency
وصف الملف: application/pdf
العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Medical Genetics; Yurt dışı; Yurt içi; Sanayi; Grant, A. V. vd. (2011). "Accounting for genetic heterogeneity in homozygosity mapping: Application to Mendelian susceptibility to mycobacterial disease". Journal of Medical Genetics, 48(8), 567-571.; https://doi.org/10.1136/jmg.2011.089128Test; https://jmg.bmj.com/content/48/8/567Test; http://hdl.handle.net/11452/25068Test; 000292958800012; 2-s2.0-79961127020; 567; 571; 48
الإتاحة: https://doi.org/10.1136/jmg.2011.089128Test
http://hdl.handle.net/11452/25068Test
https://jmg.bmj.com/content/48/8/567Test -
3دورية أكاديمية
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Kılıç, Sara Şebnem, 34975059200
مصطلحات موضوعية: Immunology, Research & experimental medicine, Hyper-ige syndrome, Sequencing-based discovery, Cd4(+) t-cells, Th17 cells, Inborn-errors, Ifn-gamma, Th17-associated cytokines, Deficiency, Disease, Il-27, Base sequence, Candidiasis, chronic mucocutaneous, Electrophoretic mobility shift assay, Enzyme-linked immunosorbent assay, Female, Flow cytometry, Fluorescent antibody technique, Germ-line mutation, Humans, Immunoblotting, Interferon-gamma, Interleukin-17, Interleukins, Male, Models, molecular, Molecular sequence data
وصف الملف: application/pdf
العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Experimental Medicine; Sanayi; Yurt dışı; Liu, L. Y. vd. (2011). "Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis". Journal of Experimental Medicine, 208(8), 1635-1648.; https://doi.org/10.1084/jem.20110958Test; https://rupress.org/jem/article/208/8/1635/41136/Gain-of-function-human-STAT1-mutations-impair-ILTest; http://hdl.handle.net/11452/32710Test; 000293441500008; 2-s2.0-79961154447; 1635; 1648; 208
الإتاحة: https://doi.org/10.1084/jem.20110958Test
http://hdl.handle.net/11452/32710Test
https://rupress.org/jem/article/208/8/1635/41136/Gain-of-function-human-STAT1-mutations-impair-ILTest -
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المؤلفون: Bernd H. Belohradsky, Miriam Hoernes, Sophie Cypowyj, Janine Reichenbach, Saleh Al-Muhsen, Magali Audry, Joachim Roesler, Amos Etzioni, Francisco Espinosa Rosales, Matías Oleastro, Luyan Liu, Tatiana Kochetkov, Viktor P. Chernyshov, Olivier Lortholary, Cécile Masson, Julie Toubiana, Stéphane Blanche, Caroline Thumerelle, Reinhard Seger, Dan Engelhard, Beáta Tóth, Yuval Itan, Lizbeth Blancas-Galicia, Patrick Nitschke, Gizi Wildbaum, Ludmyla Chernyshova, Avinash Abhyankar, Jérome Flatot, Ellen D. Renner, Ileana Maria Madrigal Beas, Xiao-Fei Kong, Maya Chrabieh, Antoine Toulon, Capucine Picard, Masao Kobayashi, László Maródi, J. Hiller, Alexandra Y. Kreins, Christine Bodemer, Julie Sawalle-Belohradsky, Alexandre Bolze, Claudia Traidl-Hoffmann, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Anastasia Bondarenko, Alain Fischer, Emmanuelle Jouanguy, Laurent Abel, Theresia Kusuma, Nathan Karin, Rosa María Cortés Grimaldo, Pierre-Régis Burgel, Alessandro Borghesi, Annette Jansson, Anne Puel, Mélanie Bué, Jacinta Bustamante, Kilian Eyerich, Mélanie Migaud, Carlos Torres Lozano, Stefanie Eyerich, Barbara Drexel, Sara Sebnem Kilic, Klaus Magdorf, Satoshi Okada, Vera Gulácsy
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Kılıç, Sara Şebnem, University of Zurich, Puel, A
المصدر: The Journal of Experimental Medicine
J. Exp. Med. 208, 1635-1648 (2011)مصطلحات موضوعية: Male, Models, Molecular, medicine.medical_treatment, T-Lymphocytes, Job Syndrome, Mucocutaneous Candidiasis, Mutation, Fluorescent Antibody Technique, Interleukin 6, Electrophoretic Mobility Shift Assay, Receptor, Interferon alpha-beta, Gene, Interleukin 22, 0302 clinical medicine, Hyper-ige syndrome, Interleukin 17, Gain of function mutation, T lymphocyte, Immunology and Allergy, Disease, Chronic mucocutaneous candidiasis, Sequencing-based discovery, hyper-ige syndrome, sequencing-based discovery, cd4(+) t-cells, th17 cells, inborn-errors, ifn-gamma, th17-associated cytokines, deficiency, disease, il-27, Phosphorylation, Child, Dominance (genetics), Priority journal, Allele, 0303 health sciences, Heterozygosity, Candidiasis, Chronic Mucocutaneous, Interleukin-17, Flow Cytometry, 3. Good health, Pedigree, Cytokine, STAT1 Transcription Factor, 2723 Immunology and Allergy, Deficiency, Mucocutaneous candidiasis, Female, Cd4(+) t-cells, Inborn-errors, Human, Il-27, Interleukin 17F, Clinical article, Immunology, Immunoblotting, Molecular Sequence Data, Research & experimental medicine, 610 Medicine & health, Enzyme-Linked Immunosorbent Assay, Biology, Chronic disease, Article, 03 medical and health sciences, Interferon-gamma, Germline mutation, Immunity, STAT1 protein, Stat 1 gene, medicine, Autosomal dominant disorder, Humans, Th17-associated cytokines, ddc:610, Th17 cells, Medicine, research & experimental, Germ-Line Mutation, 030304 developmental biology, 2403 Immunology, Base Sequence, Interleukins, Infant, Heterozygote advantage, Sequence Analysis, DNA, medicine.disease, Interleukin 21, 10036 Medical Clinic, Interferons, Ifn-gamma, Sequence Alignment, 030215 immunology
وصف الملف: application/pdf; LiuL,_2011.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f22afce4bf3f7b792989039cf399f52Test
http://europepmc.org/articles/PMC3149226Test -
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المؤلفون: Audrey V. Grant, Saleh Al-Muhsen, Ayse Palanduz, Jacqueline Feinberg, Ozden Sanal, Daniel K. Nolan, Anne Boland, Orchidée Filipe-Santos, Laurent Abel, Ludovic de Beaucoudrey, Jean-Laurent Casanova, Eléonore Herquelot, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Sara Sebnem Kilic, Yildiz Camcioglu
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı., Kılıç, Sara Şebnem, AAH-1658-2021, Çocuk Sağlığı ve Hastalıkları
مصطلحات موضوعية: Interleukin 12 receptor beta1, Immune deficiency, Mendelian susceptibility to mycobacterial disease, Gene sequence, Gene locus, Homozygosity, Genetic heterogeneity, Mycobacteriosis, Deficiency, BCG Vaccine, Sequencing-based discovery, Mendelian disorders, Genetics (clinical), Priority journal, Genetics, Reveals, Genetics & heredity, Homozygote, Disease gene identification, Genetic linkage, symbols, Protein kinase TYK2, Human, Genome-wide association study, Genotype, Genetic predisposition to disease, Locus (genetics), Accounting, Biology, Statistical power, Article, symbols.namesake, Mycobacterium infections, Genetic susceptibility, Humans, Family, Gene mutation, Gene mapping, business.industry, Immunity, Mycobacterial disease, Single nucleotide polymorphism, Mutation, Mendelian inheritance, Genetic association, Lod Score, business
وصف الملف: application/pdf; text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60aa69049db65fc8939dff1f7d04befbTest
http://hdl.handle.net/11452/25068Test