المؤلفون: Eckardt, K. -U, Alper, S. L., Antignac, C., Bleyer, A. J., Chauveau, D., Dahan, K., Constantinou-Deltas, Constantinos D., Hosking, A., Kmoch, S., Rampoldi, L., Wiesener, M., Wolf, M. T., Devuyst, O.

المساهمون: Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169], Eckardt, Ku, Alper, Sl, Antignac, C, Bleyer, Aj, Chauveau, D, Dahan, K, Deltas, C, Hosking, A, Kmoch, S, Rampoldi, L, Wiesener, M, Wolf, Mt, Devuyst, O

المصدر: Kidney international
Kidney Int.

مصطلحات موضوعية: Pathology, Tamm–Horsfall protein, glomerulus filtration rate, genetic association, Gout, uromodulin, kidney disease, DNA Mutational Analysis, treatment contraindication, Disease, hyperuricemia, Medullary cystic kidney disease, preprorenin, REN gene, Tamm Horsfall glycoprotein, Pathognomonic, medical terminology, genetics, gene mutation, autosomal dominant tubulointerstitial kidney disease, pathophysiology, HNF1B gene, biology, predictive value, hepatocyte nuclear factor-1β, consensus development, genetic screening, deficiency, HNF1B, Polycystic Kidney, Autosomal Dominant, genetic code, Phenotype, Treatment Outcome, priority journal, classification, diagnostic test, Nephrology, standards, nomenclature, Kidney Diseases, medicine.medical_specialty, Consensus, phenotype, disease classification, nephrology, kidney transplantation, MUC1 gene, Hyperuricemia, Article, medication therapy management, UMOD gene, gout, Predictive Value of Tests, Terminology as Topic, Uromodulin, medicine, follow up, Humans, Genetic Predisposition to Disease, human, business.industry, practice guideline, hepatocyte nuclear factor 1beta, medicine.disease, mucin 1, clinical feature, renin, consensus, nephronophthisis, Mutation, biology.protein, Tubulointerstitial fibrosis, treatment outcome, Diagnosis Classification, genetic disorder, mutation, business, genetic predisposition, dna mutational analysis, Kidney disease, mucin-1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee7df157d3376e08697dad96b0d3b26
https://pubmed.ncbi.nlm.nih.gov/25738250

المؤلفون: Bleyer, A. J., Kmoch, S., Antignac, C., Robins, V., Kidd, K., Kelsoe, J. R., Hladik, G., Klemmer, P., Knohl, S. J., Scheinman, S. J., Vo, N., Santi, A., Harris, A., Canaday, O., Weller, N., Hulick, P. J., Vogel, K., Rahbari-Oskoui, F. F., Tuazon, J., Constantinou-Deltas, Constantinos D., Somers, D., Megarbane, A., Kimmel, P. L., Sperati, C. J., Orr-Urtreger, A., Ben-Shachar, S., Waugh, D. A., Mcginn, S., Bleyer Jr., A. J., Hodaňová, K., Vyletal, P., Živná, M., Hart, T. C., Hart, P. S.

المساهمون: Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

المصدر: Clinical Journal of the American Society of Nephrology
Clin.J.Am.Soc.Nephrol.

مصطلحات موضوعية: Male, Pathology, glomerulus filtration rate, Time Factors, Epidemiology, urinalysis, medicine.medical_treatment, DNA Mutational Analysis, variable number of tandem repeat, genetic analysis, Critical Care and Intensive Care Medicine, Medullary cystic kidney disease, Kidney, Gastroenterology, Tamm Horsfall glycoprotein, Risk Factors, middle aged, gene mutation, Registries, Aged, 80 and over, adult, article, Age Factors, Middle Aged, Polycystic Kidney, Autosomal Dominant, Pedigree, female, medicine.anatomical_structure, Phenotype, genotyping technique, Nephrology, Mutation (genetic algorithm), Disease Progression, Female, mutational analysis, Adult, medicine.medical_specialty, Adolescent, Risk Assessment, Young Adult, medullary sponge kidney, male, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, human, chromosome 1, Dialysis, Aged, Retrospective Studies, Transplantation, business.industry, Mucin-1, Editorials, Retrospective cohort study, mucin 1, medicine.disease, major clinical study, renin, Mutation, Kidney Failure, Chronic, Gene-Environment Interaction, Age of onset, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca78b4f21f1de7659a0375ff4f482709
https://pubmed.ncbi.nlm.nih.gov/24509295

المؤلفون: Veronika Baresova, Miroslav Votruba, Kálmán Tory, Aleš Hnízda, Jakub Sikora, Matthias T.F. Wolf, Marisa Santostefano, Neila Belghith, Lídia Balogh, Jan Živný, Tal Kopel, Robert M. Haws, Bertrand Knebelmann, Andrea Wenzel, Bodo B. Beck, Lawrence R. Shoemaker, Laurent Mesnard, Anna Jakubowska, Kendrah Kidd, Charles Shaw-Smith, Christoforos Stavrou, Mayssa Abdelwahed, Constantinos Deltas, John A. Sayer, Claudio Graziano, Rhian L Clissold, Petr Vyleťal, Stanislav Kmoch, Victoria Robins, Howard Trachtman, Michael E. Bleyer, Marie Matignon, Anthony J. Bleyer, Kathleen Claes, Jana Sovová, Irene Capelli, Philippe Grimbert, Sharon M. Moe, Luca Rampoldi, Ivana Jedličková, Karsten Häeffner, Stéphane Decramer, Kateřina Hodaňová, Helena Trešlová, Matthew R. Sinclair, Raj Munshi, Gregory Papagregoriou, Hana Hartmannová, Albert C.M. Ong, Mohamad Zaidan, Agnieszka Łaszkiewicz, Amy N. Sussman, Claudia Izzi, Martina Živná, Helena Hůlková, Francesco Scolari

المساهمون: Živná, M, Kidd, K, Zaidan, M, Vyleťal, P, Barešová, V, Hodaňová, K, Sovová, J, Hartmannová, H, Votruba, M, Trešlová, H, Jedličková, I, Sikora, J, Hůlková, H, Robins, V, Hnízda, A, Živný, J, Papagregoriou, G, Mesnard, L, Beck, Bb, Wenzel, A, Tory, K, Häeffner, K, Wolf, Mtf, Bleyer, Me, Sayer, Ja, Ong, Acm, Balogh, L, Jakubowska, A, Łaszkiewicz, A, Clissold, R, Shaw-Smith, C, Munshi, R, Haws, Rm, Izzi, C, Capelli, I, Santostefano, M, Graziano, C, Scolari, F, Sussman, A, Trachtman, H, Decramer, S, Matignon, M, Grimbert, P, Shoemaker, Lr, Stavrou, C, Abdelwahed, M, Belghith, N, Sinclair, M, Claes, K, Kopel, T, Moe, S, Deltas, C, Knebelmann, B, Rampoldi, L, Kmoch, S, Bleyer, Aj

المصدر: Kidney international. 98(6)

مصطلحات موضوعية: 0301 basic medicine, Signal peptide, Adult, Male, medicine.medical_specialty, Mutant, 030232 urology & nephrology, Chromosomal translocation, autosomal dominant tubulointerstitial kidney disease, characterization, mutation, prosegment, renin, signal peptide, medicine.disease_cause, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Renin–angiotensin system, Renin, medicine, Humans, Secretion, Child, Mutation, Polycystic Kidney Diseases, business.industry, Endoplasmic reticulum, Anemia, medicine.disease, 030104 developmental biology, Endocrinology, Nephrology, Female, business, Kidney disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43a3f233cbb9fbd3984ddb55fbd2a59a
https://pubmed.ncbi.nlm.nih.gov/33276865

المؤلفون: Nathalie Demoulin, Eric Goffin, Yves Pirson, Anna Greka, Patrick Hofmann, Uyen Huynh-Do, Olivier Devuyst, Olivier Bonny, Johann Morelle, Gregory Papagregoriou, Roser Torra, Karin Dahan, Hendrica Belge, Bruno Vogt, Constantinos Deltas, John A. Sayer, Anthony J. Bleyer, Céline Schaeffer, Kendrah Kidd, Daniel Guido Fuster, Luca Rampoldi, Eric Olinger, Stanislav Kmoch, Kateřina Hodaňová, Anne Kipp, Inès Dufour, Reto Martin Venzin, Thomas Fehr, Andreas D. Kistler, Christina Venzin, Martina Živná, Daniel P. Gale, Richard Sandford

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Olinger, E, Hofmann, P, Kidd, K, Dufour, I, Belge, H, Schaeffer, C, Kipp, A, Bonny, O, Deltas, C, Demoulin, N, Fehr, T, Fuster, Dg, Gale, Dp, Goffin, E, Hodanova, K, Hyunh-Do, U, Kistler, Ad, Morelle, J, Papagregoriou, G, Pirson, Y, Sandford, R, Sayer, Ja, Torra, R, Venzin, C, Venzin, R, Vogt, B, Živná, M, Greka, A, Dahan, K, Rampoldi, L, Kmoch, S, Bleyer AJ, Sr, Devuyst, O

المصدر: Kidney international, Vol. 98, no. 3, p. 717-731 (2020)
Olinger, E.; Hofmann, P; Kidd, K; Dufour, I; Belge, H; Schaeffer, C; Kipp, A; Bonny, O; Deltas, C; Demoulin, N; Fehr, T; Fuster, D.G.; Gale, D P; Goffin, E; Hodanova, K; Huynh-Do, U.; Kistler, A D; Morelle, J; Papagregoriou, G; Pirson, Y; ... (2020). Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1. Kidney international, 98(3), pp. 717-731. Elsevier 10.1016/j.kint.2020.04.038 <http://dx.doi.org/10.1016/j.kint.2020.04.038>

مصطلحات موضوعية: 0301 basic medicine, Nephrology, medicine.medical_specialty, Tamm–Horsfall protein, Gout, Urinary system, 030232 urology & nephrology, 610 Medicine & health, medicine.disease_cause, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Diagnostic score, Internal medicine, Uromodulin, Humans, Medicine, Genetic Testing, Genetic testing, Mutation, Kidney, medicine.diagnostic_test, biology, business.industry, Mucin-1, Middle Aged, Polycystic Kidney, Autosomal Dominant, medicine.disease, Dominant kidney disease, Europe, 030104 developmental biology, medicine.anatomical_structure, biology.protein, business, Kidney disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53efa6ffdf8c50799ea1d3f4aea4a9fd
https://hdl.handle.net/2078.1/230384

المؤلفون: Karl Lhotta, Peter J. Conlon, Daniel P. Gale, Victoria Robins, Miroslav Votruba, Kendrah Kidd, Céline Schaeffer, Dominik Steubl, Ying Maggie Chen, Catarina Silveira, Gianluca Caridi, Lauren Martin, Claudia Izzi, Antonio Amoroso, Eric Olinger, Jorge Reis Almeida, Stanislav Kmoch, Rita Raposeiro, Daniela Gianchino, Alena Vrbacká, Hannah C. Ainsworth, Martina Živná, Gian Marco Ghiggeri, Kateřina Hodaňová, Rosa J. Torres, Christine Gast, Joaquim Calado, Abbigail Taylor, Olivier Devuyst, Katherine A. Benson, Susan L. Murray, Cintia Fernandes de Souza, Eva Gombos, Emily Johnson, Francesco Scolari, Gianpiero L. Cavalleri, Petr Vylet'al, Jasmin Divers, Anthony J. Bleyer, Luca Rampoldi, Sofia C Jorge, Nelson Weller

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, Centre for Toxicogenomics and Human Health (ToxOmics), NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), Kidd, K, Vylet’Al, P, Schaeffer, C, Olinger, E, Živná, M, Hodaňová, K, Robins, V, Johnson, E, Taylor, A, Martin, L, Izzi, C, Jorge, Sc, Calado, J, Torres, Rj, Lhotta, K, Steubl, D, Gale, Dp, Gast, C, Gombos, E, Ainsworth, H, Chen, Ym, Almeida, Jr, Fernandes de Souza, C, Silveira, C, Raposeiro, R, Weller, N, Conlon, P, Murray, S, Benson, Ka, Cavalleri, G, Votruba, M, Vrbacká, A, Amoroso, A, Gianchino, D, Caridi, G, Ghiggeri, Gm, Divers, J, Scolari, F, Devuyst, O, Rampoldi, L, Kmoch, S, Bleyer, A

المصدر: Kidney International Reports, Vol. 5, no. 9, p. 1472-1485 (2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)

مصطلحات موضوعية: Oncology, medicine.medical_specialty, autosomal dominant uromodulin kidney disease, Tamm–Horsfall protein, phenotype, uromodulin, genotype, Population, 030232 urology & nephrology, 030204 cardiovascular system & hematology, lcsh:RC870-923, rs4293393, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genotype, Mendelian randomization, medicine, Allele, education, Allele frequency, education.field_of_study, biology, business.industry, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, Minor allele frequency, Ophthalmology, Nephrology, biology.protein, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2f465ae41b06d75fab0bb4f3b5f050
https://hdl.handle.net/2078.1/239393

المؤلفون: Kai-Uwe Eckardt, Eric Olinger, Stanislav Kmoch, Anthony J. Bleyer, Stefanie Weber, Luca Rampoldi, Olivier Devuyst

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, University of Zurich, Devuyst, Olivier, Devuyst, O, Olinger, E, Weber, S, Eckardt, Ku, Kmoch, S, Rampoldi, L, Bleyer, Aj

المصدر: Nature Reviews Disease Primers, Vol. 5, no. 1 (2019) (2019)

مصطلحات موضوعية: Kidney, business.industry, Biopsy, Autosomal dominant polycystic kidney disease, Genetic Diseases, Inborn, 610 Medicine & health, General Medicine, Disease, 2700 General Medicine, Interstitial fibrosis, medicine.disease, Bioinformatics, Polycystic kidney, HNF1B, Polycystic Kidney, Autosomal Dominant, 10052 Institute of Physiology, medicine.anatomical_structure, medicine, Humans, Kidney Failure, Chronic, 570 Life sciences, biology, Family history, business, Kidney disease

وصف الملف: Primer_s41572-019-0109-9_1567694997_1.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::376c4dd2741634ca7a549840ab0e86ed
https://hdl.handle.net/2078.1/223677