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Artículos Encontrados 3 registros  
1.
16 p, 1.1 MB Genetics in chronic kidney disease : conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference / Köttgen, Anna (Institute of Genetic Epidemiology. Faculty of Medicine and Medical Center. University of Freiburg) ; Cornec-Le Gall, Emilie (Univ Brest. INSERM UMR 1078. GGB. CHU Brest) ; Halbritter, Jan (Charité - Universitätsmedizin Berlin) ; Kiryluk, Krzysztof (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ; Mallett, Andrew (KidGen Collaborative. Australian Genomics Health Alliance) ; Parekh, Rulan (Dalla Lana School of Public Health. and Health Policy. Management and Evaluation. University of Toronto) ; Rasouly, Hila Milo (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ; Sampson, Matthew G. (Kidney Disease Initiative. Broad Institute of MIT and Harvard) ; Tin, Adrienne (Division of Nephrology. University of Mississippi Medical Center) ; Antignac, Corinne (Department of Genetics. Necker Hospital. APHP) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Bergmann, Carsten (Department of Nephrology. Faculty of Medicine and Medical Center. University of Freiburg) ; Bleyer, Anthony J. (Section on Nephrology. Wake Forest School of Medicine) ; Bockenhauer, Detlef (Department of Renal Medicine. University College London) ; Devuyst, Olivier (Department of Physiology. Mechanisms of Inherited Kidney Disorders Group. University of Zurich) ; Florez, Jose C. (Department of Medicine. Harvard Medical School) ; Fowler, Kevin J. (The Voice of the Patient. Inc.) ; Franceschini, Nora (Department of Epidemiology. Gillings School of Global Public Health. University of North Carolina) ; Fukagawa, Masafumi (Division of Nephrology. Endocrinology and Metabolism. Tokai University School of Medicine) ; Gale, Daniel (Rare Renal Disease Registry. UK Renal Registry) ; Gbadegesin, Rasheed A. (Department of Pediatrics. Division of Nephrology. Duke University Medical Center) ; Goldstein, David B. (Department of Genetics and Development. Columbia University) ; Grams, Morgan E. (Department of Nephrology. Johns Hopkins University School of Medicine) ; Greka, Anna (Department of Medicine. Brigham and Women's Hospital. Harvard Medical School) ; Gross, Oliver (University Medical Center Göttingen) ; Guay-Woodford, Lisa M. (Center for Translational Science. Children's National Health System) ; Harris, Peter C. (Division of Nephrology and Hypertension. Mayo Clinic) ; Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ; Hung, Adriana M. (VA Tennessee Valley Healthcare System. Division of Nephrology and Hypertension. Department of Medicine. Vanderbilt Center for Kidney Disease. Vanderbilt Precision Nephrology Program. Vanderbilt University Medical Center) ; Knoers, Nine V.A.M. (Department of Genetics. University Medical Center Groningen) ; Kopp, Jeffrey B. (Kidney Disease Section. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). National Institutes of Health (NIH)) ; Kretzler, Matthias (Department of Computational Medicine and Bioinformatics. University of Michigan) ; Lanktree, Matthew B. (Department of Medicine. McMaster University) ; Lipska-Ziętkiewicz, Beata S. (Rare Diseases Centre and Clinical Genetics Unit. Department of Biology and Medical Genetics. Medical University of Gdansk) ; Nicholls, Kathleen (Department of Nephrology. Royal Melbourne Hospital. University of Melbourne) ; Nozu, Kandai (Department of Pediatrics. Kobe University Graduate School of Medicine) ; Ojo, Akinlolu (University of Kansas School of Medicine) ; Parsa, Afshin (Department of Medicine. University of Maryland School of Medicine) ; Pattaro, Cristian (Eurac Research. Institute for Biomedicine (affiliated with the University of Lübeck)) ; Pei, York (Division of Nephrology. University Health Network) ; Pollak, Martin R. (Division of Nephrology. Beth Israel Deaconess Medical Center. Harvard Medical School) ; Rhee, Eugene P. (Massachusetts General Hospital) ; Sanna-Cherchi, Simone (Columbia University) ; Savige, Judy (The University of Melbourne) ; Sayer, John (NIHR Newcastle Biomedical Research Centre) ; Scolari, Francesco (Department of Medical and Surgical Specialties. University of Brescia) ; Sedor, John R. (Case Western Reserve University. Department of Physiology and Biophysics) ; Sim, Xueling (Saw Swee Hock School of Public Health. National University of Singapore and National University Health System) ; Somlo, Stefan (Yale University. Department of Genetics) ; Susztak, Katalin (University of Pennsylvania. Perelman School of Medicine) ; Tayo, Bamidele O. (Loyola University Chicago. Department of Public Health Sciences) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; van Eerde, Albertien M. (Utrecht University Medical Center. Department of Genetics) ; Weinstock, André (Alport Syndrome Foundation) ; Winkler, Cheryl A. (Frederick National Laboratory for Cancer Research. National Cancer Institute) ; Wuttke, Matthias (University of Freiburg) ; Zhang, Hong (Key Ministry of Health of China. Laboratory of Renal Disease) ; King, Jennifer M. (August Editorial) ; Cheung, Michael (KDIGO) ; Jadoul, Michel (Université Catholique de Louvain. Cliniques Universitaires Saint Luc) ; Winkelmayer, Wolfgang C. (Baylor College of Medicine. Selzman Institute for Kidney Health) ; Gharavi, Ali G. (Columbia University Irving Medical Center) ; Universitat Autònoma de Barcelona
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. [...]
2022 - 10.1016/j.kint.2022.03.019
Kidney International, Vol. 101 Núm. 6 (june 2022) , p. 1126-1141  
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2.
10 p, 1.7 MB The 2019 and 2021 International Workshops on Alport Syndrome / Daga, Sergio (University of Siena) ; Ding, Jie (Peking University First Hospital) ; Savige, Judy (The University of Melbourne) ; Lipska-Ziętkiewicz, Beata S. (Medical University of Gdańsk) ; Hoefele, Julia (Technical University of Munich) ; Flinter, Frances (Guys' and St Thomas' NHS Foundation Trust) ; Gale, Daniel (UK Renal Registry. Rare Renal Disease Registry) ; Aksenova, Marina (Y. Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University) ; Kai, Hirofumi (Kumamoto University) ; Perin, Laura (University of Southern California) ; Barua, Moumita (University of Toronto) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Miner, Jeff H. (Washington University School of Medicine) ; Massella, Laura (Bambino Gesù Children's Hospital) ; Ljubanović, Danica Galešić (University of Zagreb) ; Lennon, Rachel (The University of Manchester) ; Weinstock, Andrè B. (Alport Syndrome Foundation) ; Knebelmann, Bertrand (Paris University, Paris, France) ; Cerkauskaite, Agne (Vilnius University Hospital Santariskiu Clinics) ; Gear, Susie (Alport UK, Tetbury, UK) ; Gross, Oliver (University Medical Center Göttingen) ; Turner, A. Neil (University of Edinburgh) ; Baldassarri, Margherita (Azienda Ospedaliero-Universitaria Senese) ; Pinto, Anna Maria (Azienda Ospedaliero-Universitaria Senese) ; Renieri, Alessandra (Azienda Ospedaliero-Universitaria Senese) ; Universitat Autònoma de Barcelona
In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated with hearing loss. [...]
2022 - 10.1038/s41431-022-01075-0
European Journal of Human Genetics, march 2022, p. 1-10  
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3.
9 p, 1.5 MB Advances and unmet needs in genetic, basic and clinical science in Alport syndrome : report from the 2015 International Workshop on Alport Syndrome / Gross, Oliver (University Medicine Goettingen (Germany)) ; Kashtan, Clifford E. (University of Minnesota Medical School (USA)) ; Rheault, Michelle N. (University of Minnesota Medical School (USA)) ; Flinter, Frances (Guy's and St Thomas' NHS Foundation Trust (United Kingdom)) ; Savige, Judith (The University of Melbourne (Australia)) ; Miner, Jeffrey H. (Washington University School of Medicine (USA)) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Deltas, Constantinos (University of Cyprus) ; Savva, Isavella (University of Cyprus) ; Perin, Laura (University of Southern California, Children's Hospital Los Angeles (USA)) ; Renieri, Alessandra (University of Siena (Italy)) ; Ariani, Francesca (University of Siena (Italy)) ; Mari, Francesca (University of Siena (Italy)) ; Baigent, Colin (University of Oxford (United Kingdom)) ; Judge, Parminder (University of Oxford (United Kingdom)) ; Knebelman, Bertrand (Université Paris Descartes (France)) ; Heidet, Laurence (Clinique Maurice Lamy, Hôpital Necker-Enfants Malades (France)) ; Lagas, Sharon (Alport Syndrome Foundation (USA)) ; Blatt, Dave (Alport Foundation of Australia) ; Ding, Jie (Peking University First Hospital (China)) ; Zhang, Yanqin (Peking University First Hospital (China)) ; Gale, Daniel (University College London-Centre for Nephrology (United Kingdom)) ; Prunotto, Marco (F. Hoffmann-La Roche Ltd. Roche Pharma Research & Early Development (Switzerland)) ; Xue, Yong (Global Clinical Development. Sanofi Genzyme (The Netherlands)) ; Schachter, Asher D. (Novartis Institutes for BioMedical Research (USA)) ; Morton, Lori C. G. (Regeneron Pharmaceuticals (USA)) ; Blem, Jacqui (Regulus Therapeutics (USA)) ; Huang, Michael (Regulus Therapeutics (USA)) ; Liu, Shiguang (Sanofi-Genzyme R&D Center (USA)) ; Vallee, Sebastien (Discovery Biology. Shire (USA)) ; Renault, Daniel (FEDERG (Belgium)) ; Schifter, Julia (Alport Israel) ; Skelding, Jules (Alport UK (United Kingdom)) ; Gear, Susie (Alport UK (United Kingdom)) ; Friede, Tim (University Medical Center Goettingen (Germany)) ; Turner, A. Neil (University of Edinburgh (United Kingdom)) ; Lennon, Rachel (University of Manchester (United Kingdom)) ; Universitat Autònoma de Barcelona
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. [...]
2017 - 10.1093/ndt/gfw095
Nephrology Dialysis Transplantation, Vol. 32, Issue 6 (June 2017) , p. 916-924  
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1 Gross, O.
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