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10 p, 1.7 MB |
The 2019 and 2021 International Workshops on Alport Syndrome
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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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12 p, 1.8 MB |
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria
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Savige, Judy (The University of Melbourne) ;
Storey, Helen (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ;
Watson, Elizabeth (South West Genomic Laboratory Hub, North Bristol Trust) ;
Hertz, Jens Michael (Odense University Hospital (Dinamarca)) ;
Deltas, Constantinos (University of Cyprus. Center of Excellence in Biobanking and Biomedical Research and Molecule Medicine Center) ;
Renieri, Alessandra (University of Siena. Medical Genetics) ;
Mari, Francesca (Institute de Pathologie et de Genetique ASBL (Bèlgica). Departement de Biologie Moleculaire) ;
Hilbert, Pascale (Institute de Pathologie et de Genetique ASBL (Bèlgica). Departement de Biologie Moleculaire) ;
Plevova, Pavlina (University Hospital of Ostrava. Department of Medical Genetics, and Department of Biomedical Sciences) ;
Byers, Peter (University of Washington. Departments of Pathology and Medicine) ;
Cerkauskaite, Agne (Vilnius University. Institute of Biomedical Sciences) ;
Gregory, Martin (University of Utah Health. Division of Nephrology) ;
Cerkauskiene, Rimante (Vilnius University. Clinic of Pediatrics) ;
Ljubanović, Danica Galešić (University of Zagreb) ;
Becherucci, Francesca (Nephrology Unit and Meyer Children's University Hospital) ;
Errichiello, Carmela (Nephrology Unit and Meyer Children's University Hospital) ;
Massella, Laura (Bambino Gesù Children's Hospital) ;
Aiello, Valeria (University of Bologna) ;
Lennon, Rachel (The University of Manchester) ;
Hopkinson, Louise (The University of Manchester Sciences, Faculty of Biology Medicine and Health) ;
Koziell, Ania (King's College London) ;
Lungu, Adrian (Fundeni Clinical Institute) ;
Rothe, Hansjorg Martin (Centre for Nephrology and Metabolic Disorders, Weisswasser, Germany) ;
Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ;
Zacchia, Miriam (Nephrology Unit, University of Campania) ;
Martic, Tamara Nikuseva (School of Medicine University of Zagreb) ;
Gupta, Asheeta (Birmingham Children's Hospital) ;
van Eerde, Albertien (Utrecht University. Departments of Genetics and Center for Molecular MedicinE) ;
Gear, Susie (Alport UK) ;
Landini, Samuela (University of Florence. Medical Genetics Unit) ;
Palazzo, Viviana (Meyer Children's University Hospital) ;
al-Rabadi, Laith (University of UTAH. Health Sciences Centre) ;
Claes, Kathleen (University Hospitals Leuven (Bèlgica)) ;
Corveleyn, Anniek (University Hospitals Leuven (Bèlgica)) ;
Van Hoof, Evelien (University Hospitals Leuven (Bèlgica)) ;
van Geel, Micheel (Maastricht University Medical Center) ;
Williams, Maggie (Southmead Hospital) ;
Ashton, Emma (Great Ormond Street Hospital for Children (Londres)) ;
Belge, Hendica (Radboud University Medical Center) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Bierzynska, Agnieszka (University of Bristol. Bristol Renal Unit, Bristol Medical School) ;
Gangemi, Concetta (University Hospital of Verona (Itàlia)) ;
Lipska-Ziętkiewicz, Beata S. (Medical University of Gdansk. Centre for Rare Diseases, and Clinical Genetics Unit) ;
Universitat Autònoma de Barcelona
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family history of haematuria or renal failure) to include persistent proteinuria, steroid-resistant nephrotic syndrome, focal and segmental glomerulosclerosis (FSGS), familial IgA glomerulonephritis and end-stage kidney failure without an obvious cause. [...]
2021 - 10.1038/s41431-021-00858-1
European Journal of Human Genetics, Vol. 29 (april 2021) , p. 1186-1197
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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
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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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