المؤلفون: Sun, Jielin, Zheng, Siqun Lilly, Wiklund, Fredrik, Isaacs, Sarah D., Purcell, Lina D., Gao, Zhengrong, Hsu, Fang-Chi, Kim, Seong-Tae, Liu, Wennuan, Zhu, Yi, Stattin, Pär, Adami, Hans-Olov, Wiley, Kathleen E., Dimitrov, Latchezar, Sun, Jishan, Li, Tao, Turner, Aubrey R., Adams, Tamara S., Adolfsson, Jan, Johansson, Jan-Erik, Lowey, James, Trock, Bruce J., Partin, Alan W., Walsh, Patrick C., Trent, Jeffrey M., Duggan, David, Carpten, John, Chang, Bao-Li, Grönberg, Henrik, Isaacs, William B., Xu, Jianfeng

المصدر: Nature Genetics. 40(10):1153-1155

مصطلحات موضوعية: Aged, Chromosome Mapping, Chromosomes, Human, Pair 17/*genetics, Genetic Predisposition to Disease/*genetics, Haplotypes/*genetics, Hepatocyte Nuclear Factor 1-beta/*genetics, Humans, Linkage (Genetics), Male, Middle Aged, Polymorphism, Single Nucleotide/*genetics, Prostatic Neoplasms/*genetics/pathology, Risk Factors, MEDICINE, MEDICIN, Dermatology and venerology, clinical genetics, internal medicine, Clinical genetics, Dermatologi och venerologi, klinisk genetik, invärtesmedicin, Klinisk genetik, Medical Genetics, Medicinsk genetik

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-3676Test
https://doi.org/10.1038/ng.214Test

المؤلفون: Cirovic, Branko, de Bree, L. Charlotte J., Schulte-Schrepping, Jonas, Klee, Kathrin, Oosting, Marije, Koeken, Valerie A. C. M., van Ingen, Jakko, Li, Yang, Benn, Christine S., Schultze, Joachim L., Joosten, Leo A. B., Curtis, Nigel, Groh, Laszlo, Netea, Mihai G., Schlitzer, Andreas, Blok, Bas A., Chan, Joyce, van der Velden, Walter J. F. M., Bremmers, M. E. J., van Crevel, Reinout, Händler, Kristian, Picelli, Simone

المصدر: Cell host and microbe 28(2), 322 - 334.e5 (2020). doi:10.1016/j.chom.2020.05.014

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, BCG Vaccine: immunology, Bone Marrow: immunology, Bone Marrow Cells: cytology, Bone Marrow Cells: immunology, Cytokines: metabolism, Female, Granulocytes: cytology, Healthy Volunteers, Hematopoiesis: immunology, Hematopoietic Stem Cells: cytology, Hepatocyte Nuclear Factor 1-alpha: genetics, Hepatocyte Nuclear Factor 1-beta: genetics, Humans, Lipopolysaccharide Receptors: metabolism, Male, Monocytes: cytology, Monocytes: immunology, Mycobacterium bovis: immunology, Transcription, Genetic: genetics, Transcriptome: genetics, Vaccination, Young Adult, alpha 1-Antitrypsin: blood

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1931-3128; info:eu-repo/semantics/altIdentifier/pmid/pmid:32544459; info:eu-repo/semantics/altIdentifier/issn/1934-6069; https://pub.dzne.de/record/153389Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-01386%22Test

الإتاحة: https://doi.org/10.1016/j.chom.2020.05.014Test
https://pub.dzne.de/record/153389Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-01386%22Test

المؤلفون: Antoine Huart, Isabelle Fauquet, François Isus, Eric Bieth, Dominique Chauveau, Roger Mieusset, M. Daudin, Laetitia Monteil, Stanislas Faguer, Patrick Calvas, Cathy Prouheze, Louis Bujan, Nicolas Chassaing

المساهمون: Hôpital Paule de Viguier, CHU Toulouse [Toulouse], Groupe de recherche en fertilité humaine ( GRFH), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Clinique Pasteur, Clinique Pasteur [Toulouse], Université Fédérale Toulouse Midi-Pyrénées, Centre de Référence du Sud Ouest des Maladies Rénales Rares, CHU Toulouse [Toulouse]-Hôpital des Enfants, Hôpital de Rangueil, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Néphrologie et Transplantation d'organes, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse]

المصدر: Journal of Nephrology
Journal of Nephrology, Italian Society of Nephrology/Springer, 2017, 30 (2), pp.211-218. ⟨10.1007/s40620-016-0286-5⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Nephrology, HNF1B, Pregnancy Rate, 030232 urology & nephrology, Reproductive technology, MESH: Risk Assessment, Kidney, urologic and male genital diseases, Gastroenterology, Male infertility, MESH: Pregnancy, Vas Deferens, 0302 clinical medicine, MESH: Polycystic Kidney, Autosomal Dominant / physiopathology, Male Urogenital Diseases, MESH: Risk Factors, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Pregnancy, Risk Factors, MESH: Infertility, Male* / epidemiology, Prevalence, Polycystic kidney disease, MESH: Vas Deferens / physiopathology, Medicine, Absence of vas deferens, MESH: Kidney / abnormalities, MESH: Treatment Outcome, MESH: Pregnancy Rate, MESH: France / epidemiology, MESH: Middle Aged, MESH: Polycystic Kidney, Autosomal Dominant / therapy, MESH: Genetic Predisposition to Disease, MESH: Male Urogenital Diseases / therapy, Middle Aged, MESH: Hepatocyte Nuclear Factor 1-beta / genetics, Polycystic Kidney, Autosomal Dominant, 3. Good health, MESH: Reproductive Techniques, Assisted, Phenotype, Treatment Outcome, medicine.anatomical_structure, MESH: Fertility / genetics, MESH: Live Birth, Female, France, MESH: Kidney / physiopathology, MESH: Genetic Counseling, MESH: Tomography, X-Ray Computed, MESH: Infertility, Male* / diagnosis, Live Birth, Adult, Infertility, medicine.medical_specialty, MESH: Mutation, Reproductive Techniques, Assisted, Renal disease, Genetic Counseling, MESH: Male Urogenital Diseases / physiopathology, MESH: Phenotype, Risk Assessment, Nephropathy, 03 medical and health sciences, MESH: Male Urogenital Diseases / epidemiology, Internal medicine, MESH: Polycystic Kidney, Autosomal Dominant / genetics, Humans, Genetic Predisposition to Disease, MESH: Prevalence, Infertility, Male, ADPKD, Hepatocyte Nuclear Factor 1-beta, Retrospective Studies, MESH: Vas Deferens / abnormalities, Azoospermia, Gynecology, MESH: Infertility, Male* / genetics, MESH: Humans, business.industry, MESH: Male Urogenital Diseases / genetics, MESH: Adult, MESH: Retrospective Studies, MESH: Infertility, Male* / physiopathology, medicine.disease, MESH: Male, Fertility, 030104 developmental biology, Mutation, MESH: Polycystic Kidney, Autosomal Dominant / epidemiology, Tomography, X-Ray Computed, business, MESH: Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e58d8809ae18fc6b95e49420a8f5ccaTest
https://doi.org/10.1007/s40620-016-0286-5Test

المؤلفون: Stanislas Faguer, Dominique Chauveau, Antoine Huart, Joost P. Schanstra, Nicolas Chassaing, Flavio Bandin, Audrey Casemayou, Patrick Calvas, Stéphane Decramer, Arnaud Garnier, Cathie Prouheze

المساهمون: Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de Référence du Sud Ouest des Maladies Rénales Rares, Institut National de la Santé et de la Recherche Médicale (INSERM), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), CARBILLET, Véronique, Hôpital de Rangueil, CHU Toulouse [Toulouse], CHU Toulouse [Toulouse]-Hôpital des Enfants, Hôpital Purpan [Toulouse]

المصدر: Kidney International
Kidney International, 2014, 86 (5), pp.1007-1015. ⟨10.1038/ki.2014.202⟩
Kidney International, Nature Publishing Group, 2014, 86 (5), pp.1007-1015. ⟨10.1038/ki.2014.202⟩

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Pathology, MESH: Kidney Diseases / diagnosis, MESH: Mutation, MESH: Biomarkers / blood, MESH: Pedigree, MESH: Phenotype, MESH: Heredity, MESH: Risk Factors, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Pathognomonic, Internal medicine, MESH: Liver Function Tests, MESH: Gene Frequency, medicine, MESH: Patient Selection, MESH: Kidney Diseases / blood, MESH: DNA Mutational Analysis, Family history, Genetic testing, Cystic kidney, MESH: Humans, medicine.diagnostic_test, MESH: Diagnostic Imaging, business.industry, MESH: Blood Chemical Analysis, MESH: Genetic Predisposition to Disease, MESH: Decision Support Techniques, Gold standard (test), MESH: ROC Curve, MESH: Hepatocyte Nuclear Factor 1-beta / genetics, HNF1B, MESH: Kidney Diseases / pathology, MESH: Predictive Value of Tests, 3. Good health, MESH: Reproducibility of Results, MESH: France, MESH: Kidney Diseases / genetics, Nephrology, Predictive value of tests, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Area Under Curve, business, Liver function tests

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddc5eb4e07562c753254914c2d0c2062Test
https://doi.org/10.1038/ki.2014.202Test

المؤلفون: Faguer, Stanislas, Esposito, Laure, Casemayou, Audrey, Pirson, Yves, Decramer, Stéphane, Cartery, Claire, Hazzan, Marc, Garrigue, Valérie, Roussey, Gwenaelle, Cointault, Olivier, Ho, Thien, Merville, Pierre, Devuyst, Olivier, Gourdy, Pierre, Chassaing, Nicolas, Bascands, Jean-Loup, Kamar, Nassim, Schanstra, Joost-Peter, Rostaing, Lionel, Chauveau, Dominique

المساهمون: Département de Néphrologie et Transplantation d'organes CHU Toulouse, Pôle Urologie - Néphrologie - Dialyse - Transplantations - Brûlés - Chirurgie plastique - Explorations fonctionnelles et physiologiques CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Cliniques Universitaires Saint Luc, UCLouvain, Belgium., Service Néphrologie, médecine interne et hypertension pédiatrique CHU Toulouse, Pôle Enfants CHU Toulouse, Service de Néphrologie et Transplantation rénale CHRU-lille, Hôpital Claude Huriez Lille, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Service de Néphrologie-transplantation-dialyse Bordeaux, CHU Bordeaux, Universität Zürich Zürich = University of Zurich (UZH), Service Diabétologie CHU Toulouse, Pôle Cardiovasculaire et Métabolique CHU Toulouse, Pharmacochimie et Biologie pour le Développement (PHARMA-DEV), Institut de Recherche pour le Développement (IRD)-Institut de Chimie de Toulouse (ICT), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)

المصدر: ISSN: 0041-1337.

مصطلحات موضوعية: MESH: Adult, MESH: Calcineurin Inhibitors / adverse effects, MESH: Diabetes Mellitus / metabolism, MESH: Dose-Response Relationship, MESH: Drug Down-Regulation, MESH: France, MESH: Genetic Predisposition to Disease, MESH: Hep G2 Cells, MESH: Hepatocyte Nuclear Factor 1-beta / genetics, MESH: Hepatocyte Nuclear Factor 1-beta / metabolism, MESH: Humans, MESH: Immunosuppressive Agents / adverse effects, MESH: Chemical and Drug Induced Liver Injury / etiology, MESH: Infant, Newborn, MESH: Kidney / drug effects, MESH: Kidney / metabolism, MESH: Kidney / pathology, MESH: Kidney Failure, Chronic / diagnosis, Chronic / genetics, Chronic / metabolism, Chronic / surgery, MESH: Kidney Transplantation* / adverse effects, MESH: Chemical and Drug Induced Liver Injury / genetics, MESH: Liver / drug effects, MESH: Liver / metabolism, MESH: Liver / pathology, MESH: Mutation NFATC Transcription Factors / genetics, MESH: NFATC Transcription Factors / metabolism

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26555949; hal-03524092; https://ut3-toulouseinp.hal.science/hal-03524092Test; PUBMED: 26555949

الإتاحة: https://doi.org/10.1097/TP.0000000000000993Test
https://ut3-toulouseinp.hal.science/hal-03524092Test

المؤلفون: Faguer, Stanislas, Chassaing, Nicolas, Bandin, Flavio, Prouheze, Cathie, Garnier, Arnaud, Casemayou, Audrey, Huart, Antoine, Schanstra, Joost, Calvas, Patrick, Decramer, Stéphane, Chauveau, Dominique

المساهمون: Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de Référence du Sud Ouest des Maladies Rénales Rares, Institut National de la Santé et de la Recherche Médicale (INSERM), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 0085-2538.

مصطلحات موضوعية: MESH: Area Under Curve, MESH: Biomarkers / blood, MESH: Heredity, MESH: Humans, MESH: Kidney Diseases / blood, MESH: Kidney Diseases / diagnosis, MESH: Kidney Diseases / genetics, MESH: Kidney Diseases / pathology, MESH: Liver Function Tests, MESH: Mutation, MESH: Patient Selection, MESH: Pedigree, MESH: Blood Chemical Analysis, MESH: Phenotype, MESH: Predictive Value of Tests, MESH: ROC Curve, MESH: Reproducibility of Results, MESH: Risk Factors, MESH: DNA Mutational Analysis, MESH: Decision Support Techniques, MESH: Diagnostic Imaging, MESH: France, MESH: Gene Frequency, MESH: Genetic Predisposition to Disease, MESH: Hepatocyte Nuclear Factor 1-beta / genetics, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24897035; hal-03474737; https://ut3-toulouseinp.hal.science/hal-03474737Test; PUBMED: 24897035

الإتاحة: https://doi.org/10.1038/ki.2014.202Test
https://ut3-toulouseinp.hal.science/hal-03474737Test

المؤلفون: Bollée, Guillaume, Dahan, Karin, Flamant, Martin, Morinière, Vincent, Pawtowski, Audrey, Heidet, Laurence, Lacombe, Didier, Devuyst, Olivier, Pirson, Yves, Antignac, Corinne, Knebelmann, Bertrand

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie

المصدر: Clinical Journal of the American Society of Nephrology, Vol. 6, no. 10, p. 2429-38 (2011)

مصطلحات موضوعية: Adult, Belgium, Genetic Predisposition to Disease, Glomerular Filtration Rate, Gout - genetics, Hepatocyte Nuclear Factor 1-beta - genetics, Heredity, Humans, Hyperuricemia - blood, diagnosis, genetics, physiopathology, Kidney Diseases, Cystic - blood, Kidney Failure, Chronic - genetics, Male, Biological Markers - blood, Mutation, Nephritis, Interstitial - blood, Paris, Pedigree, Phenotype, Retrospective Studies, Risk Assessment, Risk Factors, Uric Acid - blood, Uromodulin - genetics, Central Nervous System Diseases - blood

العلاقة: boreal:113385; http://hdl.handle.net/2078.1/113385Test; info:pmid/21868615; urn:ISSN:1555-9041; urn:EISSN:1555-905X

الإتاحة: https://doi.org/10.2215/CJN.01220211Test
http://hdl.handle.net/2078.1/113385Test

المؤلفون: Elliott, K. S., Zeggini, E., McCarthy, M. I., Gudmundsson, J., Sulem, P., Stacey, S. N., Thorlacius, S., Amundadottir, L., Gronberg, H., Xu, J., Gaborieau, V., Eeles, R. A., Neal, D. E., Donovan, J. L., Hamdy, F. C., Muir, K., Hwang, S. J., Spitz, M. R., Zanke, B., Carvajal-Carmona, L., Brown, K. M., Hayward, N. K., Macgregor, S., Tomlinson, I. P., Lemire, M., Amos, C. I., Murabito, J. M., Isaacs, W. B., Easton, D. F., Brennan, P., Barkardottir, R. B., Gudbjartsson, D. F., Rafnar, T., Hunter, D. J., Chanock, S. J., Stefansson, K., Ioannidis, J. P.

مصطلحات موضوعية: Cooperative Behavior, Databases, Genetic, Genetic Predisposition to Disease, Genome-Wide Association Study/*methods, Hepatocyte Nuclear Factor 1-beta/*genetics, Humans, Neoplasms/*genetics, Polymorphism, Single Nucleotide/*genetics

العلاقة: http://olympias.lib.uoi.gr/jspui/handle/123456789/21823Test

الإتاحة: http://olympias.lib.uoi.gr/jspui/handle/123456789/21823Test

المؤلفون: Wu, Y., Lücke, A., Sumin, W.

المصدر: Journal of paleolimnology 39, 451 - 462 (2008). doi:10.1007/s10933-007-9123-0

مصطلحات موضوعية: info:eu-repo/classification/ddc/930, Alleles, Genetic Loci: genetics, Genetic Predisposition to Disease, Genome, Human: genetics, Hepatocyte Nuclear Factor 1-beta: genetics, Humans, Male, Models, Genetic, Physical Chromosome Mapping: methods, Polymorphism, Single Nucleotide: genetics, Prostatic Neoplasms: genetics, Regression Analysis, Risk Factors, HNF1B protein, human, Hepatocyte Nuclear Factor 1-beta, organic carbon, phosphorus, isotopic ratio, anthropogenic source, lake productivity, Longgan Lake, China

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:21576123; info:eu-repo/semantics/altIdentifier/issn/0921-2728; info:eu-repo/semantics/altIdentifier/wos/WOS:000254905100002; https://juser.fz-juelich.de/record/1500Test; https://juser.fz-juelich.de/search?p=id:%22PreJuSER-1500%22Test

الإتاحة: https://doi.org/10.1007/s10933-007-9123-0Test
https://juser.fz-juelich.de/record/1500Test
https://juser.fz-juelich.de/search?p=id:%22PreJuSER-1500%22Test

المؤلفون: Rosalind A. Eeles, Jenny L Donovan, Daniel F. Gudbjartsson, Douglas F. Easton, Rosa B. Barkardottir, Paul Brennan, Shih-Jen Hwang, Laufey T. Amundadottir, Brent W. Zanke, Australian Melanoma Family Study Investigators, Mark I. McCarthy, Mathieu Lemire, Ian Tomlinson, Thorunn Rafnar, Stuart MacGregor, Julius Gudmundsson, Kari Stefansson, Joanne M. Murabito, Freddie C. Hamdy, Steinunn Thorlacius, Patrick Sulem, Henrik Grönberg, Nicholas K. Hayward, Katherine S. Elliott, Eleftheria Zeggini, Christopher I. Amos, Stephen J. Chanock, David J. Hunter, Simon N. Stacey, William B. Isaacs, Jianfeng Xu, Kenneth Muir, David E. Neal, Kevin M. Brown, Margaret R. Spitz, Luis G. Carvajal-Carmona, John P. A. Ioannidis, Valerie Gaborieau

المساهمون: Kronenberg, Florian

المصدر: PloS one, vol 5, iss 5
PLoS ONE, Vol 5, Iss 5, p e10858 (2010)
PLoS ONE

مصطلحات موضوعية: Aging, Colorectal cancer, Polymorphism, Single Nucleotide/*genetics, Genome-wide association study, Bioinformatics, Prostate cancer, 0302 clinical medicine, Neoplasms, Databases, Genetic, Genome-Wide Association Study/*methods, 2.1 Biological and endogenous factors, Cooperative Behavior, Aetiology, Genetics and Genomics/Genetics of Disease, Cancer, 0303 health sciences, Multidisciplinary, Prostate Cancer, Single Nucleotide, 3. Good health, 030220 oncology & carcinogenesis, Medicine, Hepatocyte Nuclear Factor 1-beta/*genetics, Genetics and Genomics/Comparative Genomics, Neoplasms/*genetics, Research Article, Urologic Diseases, Australian Melanoma Family Study Investigators, General Science & Technology, Science, Genetics and Genomics/Complex Traits, Polymorphism, Single Nucleotide, RC0254, 03 medical and health sciences, Databases, Breast cancer, Genetic, Pancreatic cancer, medicine, Genetics, Humans, Genetic Predisposition to Disease, Diabetes and Endocrinology/Type 2 Diabetes, Polymorphism, Lung cancer, Genetics and Genomics/Cancer Genetics, PanScan Consortium, 030304 developmental biology, Hepatocyte Nuclear Factor 1-beta, business.industry, Human Genome, Odds ratio, Oncology/Multiple Endocrine Disorders and Neoplasias, medicine.disease, business, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dde547981a080c0281071ab5e157e08Test
https://escholarship.org/uc/item/08r1p719Test