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Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S.
Afiliação
  • Savige J; Department of Medicine (MH and NH), The University of Melbourne, Parkville, VIC, Australia. jasavige@unimelb.edu.au.
  • Storey H; Molecular Genetics, Viapath Laboratories, Guy's Hospital, London, UK.
  • Watson E; Elizabeth Watson, South West Genomic Laboratory Hub, North Bristol Trust, Bristol, UK.
  • Hertz JM; Jens Michael Hertz, Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Deltas C; Center of Excellence in Biobanking and Biomedical Research and Molecule Medicine Center, University of Cyprus, Nicosia, Cyprus.
  • Renieri A; Medical Genetics, University of Siena, Siena, Italy.
  • Mari F; Institute de Pathologie et de Genetique ASBL, Departement de Biologie Moleculaire, Gosselies, Belgium.
  • Hilbert P; Institute de Pathologie et de Genetique ASBL, Departement de Biologie Moleculaire, Gosselies, Belgium.
  • Plevova P; Department of Medical Genetics, and Department of Biomedical Sciences, University Hospital of Ostrava, Ostrava, Czech Republic.
  • Byers P; Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, WA, USA.
  • Cerkauskaite A; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Gregory M; Division of Nephrology, Department of Medicine, University of Utah Health, Salt Lake City, UT, USA.
  • Cerkauskiene R; Clinic of Pediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Ljubanovic DG; Department of Pathology, University of Zagreb, School of Medicine, Dubrava University Hospital, Zagreb, Croatia.
  • Becherucci F; Nephrology Unit and Meyer Children's University Hospital, Firenze, Italy.
  • Errichiello C; Nephrology Unit and Meyer Children's University Hospital, Firenze, Italy.
  • Massella L; Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Aiello V; Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy.
  • Lennon R; Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, UK.
  • Hopkinson L; Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, UK.
  • Koziell A; School of Immunology and Microbial Sciences, Faculty of Life Sciences, King's College London, London, UK.
  • Lungu A; Fundeni Clinical Institute, Pediatric Nephrology Department, Bucharest, Romania.
  • Rothe HM; Centre for Nephrology and Metabolic Disorders, Weisswasser, Germany.
  • Hoefele J; Institute of Human Genetics, Technical University of Munich, München, Germany.
  • Zacchia M; Nephrology Unit, University of Campania, Naples, Italy.
  • Martic TN; Department of Biology, School of Medicine University of Zagreb, Zagreb, Croatia.
  • Gupta A; Birmingham Children's Hospital, Birmingham, UK.
  • van Eerde A; Departments of Genetics and Center for Molecular Medicine, University Medical Center, Utrecht University, Utrecht, The Netherlands.
  • Gear S; Alport UK, Gloucester, UK.
  • Landini S; Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy.
  • Palazzo V; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.
  • Al-Rabadi L; Health Sciences Centre, University of UTAH, Salt Lake City, UT, USA.
  • Claes K; Department of Nephrology and Renal Transplantation, University Hospitals Leuven, Leuven, Belgium.
  • Corveleyn A; Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium.
  • Van Hoof E; Center for Human Genetics, University Hospitals and KU Leuven, Leuven, Belgium.
  • van Geel M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Williams M; Bristol Genetics Laboratory Pathology Sciences, Southmead Hospital, Bristol, UK.
  • Ashton E; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK.
  • Belge H; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Ars E; Inherited Kidney Disorders, Fundacio Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain.
  • Bierzynska A; Bristol Renal Unit, Bristol Medical School, University of Bristol, Bristol, UK.
  • Gangemi C; Division of Nephrology and Dialysis, University Hospital of Verona, Verona, Italy.
  • Lipska-Zietkiewicz BS; Centre for Rare Diseases, and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland.
Eur J Hum Genet ; 32(1): 132, 2024 Jan.
Article em En | MEDLINE | ID: mdl-36721056
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Texto completo: 1 Bases de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Guideline Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Guideline Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Austrália