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1دورية أكاديمية
المؤلفون: Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer
المصدر: Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)
مصطلحات موضوعية: autosomal dominant uromodulin kidney disease, genotype, phenotype, rs4293393, uromodulin, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
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المؤلفون: Martina Živná, Gabriela Dostálová, Veronika Barešová, Dita Mušálková, Ladislav Kuchař, Befekadu Asfaw, Helena Poupětová, Hana Vlášková, Tereza Kmochová, Petr Vyletal, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Lenka Steiner-Mrázová, Aleš Hnízda, Martin Radina, Miroslav Votruba, Jana Sovová, Helena Trešlová, Larisa Stolnaja, Petra Reková, Lenka Roblová, Eva Honsová, Helena Hůlková, Ivan Rychlík, Anthony J. Bleyer, Aleš Linhart, Jakub Sikora, Stanislav Kmoch
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3ede51a9102b69783bdeaf4b7f83cc9
https://hdl.handle.net/20.500.14178/1711 -
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المؤلفون: Victoria Robins, Maegan Harden, Anna Greka, Miroslav Votruba, Alese Hunt, Petr Vyleťal, Sri Vidya, Hana Hartmannová, Shahriar Moossavi, Georgeanna Tsoumas, Brendan Blumenstiel, Kateřina Hodaňová, Anthony J. Bleyer, Kendrah Kidd, Martina Živná, Annie Santi, Marwan Abbas, Lauren Martin, Stanislav Kmoch, Elizabeth Swain, Abbigail Taylor, Ebun Akinbola
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Referral, uromodulin, education, Medical laboratory, rare disease, 030105 genetics & heredity, Zip code, Article, 03 medical and health sciences, Rare Diseases, medicine, Humans, Genetic Testing, Referral and Consultation, Genetics (clinical), Retrospective Studies, Genetic testing, Internet, Self Referral, medicine.diagnostic_test, business.industry, Retrospective cohort study, Middle Aged, medicine.disease, autosomal dominant tubulo-interstitial kidney disease, 3. Good health, 030104 developmental biology, Family medicine, Female, Kidney Diseases, business, mucin-1, Kidney disease, Rare disease
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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 -
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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 -
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المؤلفون: Bowline I, Kim N, Martina Živná, Johnson E, Stanislav Kmoch, Hana Hartmannová, Robins, Taylor Kb, Kendrah Kidd, Petr Vyleťal, Anthony J. Bleyer, Frankova, Kateřina Hodaňová, Pinder Aj, Martin L, Taylor A, Miroslav Votruba, Baek Jj
المصدر: Clinical nephrology. 92(6)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, medicine.medical_treatment, Population, Renal function, Young Adult, Quality of life, Internal medicine, Uromodulin, Medicine, Humans, Genetic Testing, education, Kidney transplantation, Dialysis, Depression (differential diagnoses), Genetic testing, Aged, education.field_of_study, medicine.diagnostic_test, business.industry, Mucin-1, General Medicine, Middle Aged, medicine.disease, Cross-Sectional Studies, Nephrology, Mutation, Quality of Life, Female, Kidney Diseases, business, Kidney disease
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المؤلفون: Martina, Živná, Kendrah, Kidd, Anna, Přistoupilová, Veronika, Barešová, Mathew, DeFelice, Brendan, Blumenstiel, Maegan, Harden, Peter, Conlon, Peter, Lavin, Dervla M, Connaughton, Hana, Hartmannová, Kateřina, Hodaňová, Viktor, Stránecký, Alena, Vrbacká, Petr, Vyleťal, Jan, Živný, Miroslav, Votruba, Jana, Sovová, Helena, Hůlková, Victoria, Robins, Rebecca, Perry, Andrea, Wenzel, Bodo B, Beck, Tomáš, Seeman, Ondřej, Viklický, Sylvie, Rajnochová-Bloudíčková, Gregory, Papagregoriou, Constantinos C, Deltas, Seth L, Alper, Anna, Greka, Anthony J, Bleyer, Stanislav, Kmoch
المصدر: J Am Soc Nephrol
مصطلحات موضوعية: Male, Incidence, Biopsy, Needle, Mucin-1, Polycystic Kidney, Autosomal Dominant, Prognosis, Immunohistochemistry, Risk Assessment, Pedigree, Case-Control Studies, Mutation, Humans, Female, Genetic Predisposition to Disease, Registries, Erratum, Retrospective Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7e1e9fe02af7390bed48f1a9a951f80e
https://pubmed.ncbi.nlm.nih.gov/32234832
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