Página principal > Resultados de la búsqueda: Deltas, Constantinos
  Consejos para la búsqueda
Búsqueda avanzada
Buscar colecciones:
Ordenar por: Mostrar resultados: Formato de visualización:
Resultados globales: 3 registros encontrados en 0.01 segundos.
Artículos, Encontrados 3 registros
Artículos Encontrados 3 registros  
1.
15 p, 1.9 MB Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 / Olinger, Eric (Newcastle University) ; Hofmann, Patrick (Hospital Uster) ; Kidd, Kendrah (Charles University) ; Dufour, Inès (Division of Nephrology. Cliniques Universitaires Saint-Luc) ; Belge, Hendrica (Institute of Pathology and Genetics) ; Schaeffer, Céline (San Raffaele Scientific Institute) ; Kipp, Anne (University of Zurich) ; Bonny, Olivier (Lausanne University Hospital) ; Deltas, Constantinos (University of Cyprus) ; Demoulin, Nathalie (Université catholique de Louvain) ; Fehr, Thomas (Cantonal Hospital Graubuenden) ; Fuster, Daniel G. (Inselspital Bern University Hospital) ; Gale, Daniel (University College of London) ; Goffin, Eric (Université catholique de Louvain) ; Hodaňová, Kateřina (Charles University) ; Huynh-Do, Uyen (Inselspital Bern University Hospital) ; Kistler, Andreas (Cantonal Hospital Frauenfeld) ; Morelle, Johann (Université catholique de Louvain) ; Papagregoriou, Gregory (University of Cyprus) ; Pirson, Yves (Cliniques Universitaires Saint-Luc) ; Sandford, Richard (Cambridge Biomedical Campus) ; Sayer, John (Newcastle University) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Venzin, Christina (Hospital Davos) ; Venzin, Reto (Cantonal Hospital Graubuenden) ; Vogt, Bruno (Inselspital Bern University Hospital) ; Živná, Martina (Charles University) ; Greka, Anna (Massachusetts Institute of Technology) ; Dahan, Karin (Institute of Pathology and Genetics) ; Rampoldi, Luca (San Raffaele Scientific Institute) ; Kmoch, Stanislav (Charles University) ; Bleyer, Anthony (Charles University) ; Devuyst, Olivier (Cliniques Universitaires Saint-Luc) ; Universitat Autònoma de Barcelona
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The lack of clinical recognition and the small size of cohorts have slowed the understanding of disease ontology and development of diagnostic algorithms. [...]
2020 - 10.1016/j.kint.2020.04.038
Kidney International, Vol. 98 Núm. 3 (september 2020) , p. 717-731  
Registro completo - Creative Commons
2.
12 p, 1.8 MB Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria / 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  
Registro completo - Creative Commons
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  
Registro completo - Creative Commons

Vea también: autores con nombres similares
1 Deltas, C.
¿Le interesa recibir alertas sobre nuevos resultados de esta búsqueda?
Defina una alerta personal vía correo electrónico o subscríbase al canal RSS.
Depósito Digital de Documentos de la UAB :: Buscar :: Enviar :: Personalizar :: Ayuda
Powered by Invenio v1.1.6
Mantenido por ddd.bib@uab.cat  :: Metadatos sujetos a:
Colaboramos