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Depósito Digital de Documentos de la UAB Encontrados 2 registros  La búsqueda tardó 0.01 segundos. 
1.
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  
Registro completo - Creative Commons
2.
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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