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Artículos Encontrados 2 registros  
1.
13 p, 275.9 KB X-Linked and Autosomal Recessive Alport Syndrome : Pathogenic Variant Features and Further Genotype-Phenotype Correlations / Savige, Judith (The University of Melbourne, Melbourne, Australia) ; Storey, Helen (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Il Cheong, Hae (Seoul National University Hospital, Seoul, Korea) ; Gyung Kang, Hee (Seoul National University Hospital, Seoul, Korea) ; Park, Eujin (Seoul National University Hospital, Seoul, Korea) ; Hilbert, Pascale (Institute de Pathologie et de Genetique ASBL (Bèlgica)) ; Persikov, Anton (Princeton University, Princeton, New Jersey, United States of America) ; Torres-Fernandez, Carmen (GENETAQ, Centro de Genética Molecular) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Hertz, Jens Michael (Odense University Hospital (Dinamarca)) ; Thomassen, Mads (Odense University Hospital (Dinamarca)) ; Shagam, Lev (Pirogov Russian Medical University, Moscow, Russia) ; Wang, Dongmao (The University of Melbourne, Melbourne, Australia) ; Wang, Yanyan (The University of Melbourne, Melbourne, Australia) ; Flinter, Frances (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Nagel, Mato (Centre for Nephrology and Metabolic Medicine, Weisswasser, Germany) ; Universitat Autònoma de Barcelona
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3 / COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. [...]
2016 - 10.1371/journal.pone.0161802
PloS one, Vol. 11 (september 2016)  
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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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Vea también: autores con nombres similares
1 Savige, J.
4 Savige, Judy
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