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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 / 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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