Guidelines for Genetic Testing and Management of Alport Syndrome.

Autoantigens / genetics Collagen Type IV / genetics Genetic Testing / standards Humans Nephritis, Hereditary / diagnosis Practice Guidelines as Topic
Alport syndrome COL4A3 COL4A4 COL4A5 FSGS collagen IV digenic Alport syndrome genetic testing kidney cysts thin basement membrane nephropathy

Journal

Clinical journal of the American Society of Nephrology : CJASN
ISSN: 1555-905X
Titre abrégé: Clin J Am Soc Nephrol
Pays: United States
ID NLM: 101271570

Informations de publication

Date de publication:
01 2022
Historique:
pubmed: 22 12 2021
medline: 18 3 2022
entrez: 21 12 2021
Statut: ppublish

Résumé

Genetic testing for pathogenic

Identifiants

DOI: 10.2215/CJN.04230321 PMID: 34930753 PMC: PMC8763160
pubmed: 34930753
pii: 01277230-202201000-00024
doi: 10.2215/CJN.04230321
pmc: PMC8763160
doi:

Substances chimiques

Autoantigens 0
COL4A5 protein, human 0
Collagen Type IV 0
type IV collagen alpha3 chain 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

143-154

Subventions

Organisme : NCATS NIH HHS
ID : UL1 TR002538
Pays : United States

Commentaires et corrections

Type : ErratumIn

Informations de copyright

Copyright © 2022 by the American Society of Nephrology.

Références

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Auteurs

Judy Savige (J)

Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, Victoria, Australia.

Beata S Lipska-Zietkiewicz (BS)

Centre for Rare Diseases and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland.
ORCID: 0000-0002-4169-9685

Elizabeth Watson (E)

South West Genetic Laboratory Hub, North Bristol Trust, Bristol, United Kingdom.

Jens Michael Hertz (JM)

Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.

Constantinos Deltas (C)

Center of Excellence in Biobanking and Biomedical Research, University of Cyprus Medical School, Nicosia, Cyprus.

Francesca Mari (F)

Department of Medical Biotechnology, Medical Genetics, University of Siena, Siena, Italy.

Pascale Hilbert (P)

Departement de Biologie Moleculaire, Institute de Pathologie et de Genetique, Gosselies, Belgium.

Pavlina Plevova (P)

Department of Medical Genetics, University Hospital of Ostrava, Ostrava, Czech Republic.
Department of Biomedical Sciences, University Hospital of Ostrava, Ostrava, Czech Republic.

Peter Byers (P)

Department of Pathology, University of Washington, Seattle, Washington.
Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington.

Agne Cerkauskaite (A)

Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

Martin Gregory (M)

Division of Nephrology, Department of Medicine, University of Utah Health, Salt Lake City, Utah.

Rimante Cerkauskiene (R)

Clinic of Pediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
ORCID: 0000-0002-1971-5044

Danica Galesic Ljubanovic (DG)

Department of Pathology, University of Zagreb, School of Medicine, Dubrava University Hospital, Zagreb, Croatia.

Francesca Becherucci (F)

Nephrology Unit, Meyer Children's University Hospital, Florence, Italy.

Carmela Errichiello (C)

Nephrology Unit, Meyer Children's University Hospital, Florence, Italy.

Laura Massella (L)

Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital, Rome, Italy.

Valeria Aiello (V)

Department of Experimental Diagnostic and Specialty Medicine, Nephrology, Dialysis and Renal Transplant Unit, S. Orsola Hospital, University of Bologna, Bologna, Italy.

Rachel 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, United Kingdom.
ORCID: 0000-0001-6400-0227

Louise 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, United Kingdom.
ORCID: 0000-0003-1758-4201

Ania Koziell (A)

School of Immunology and Microbial Sciences, Faculty of Life Sciences, King's College London, London, United Kingdom.

Adrian Lungu (A)

Pediatric Nephrology Department, Fundeni Clinical Institute, Bucharest, Romania.

Hansjorg Martin Rothe (HM)

Centre for Nephrology and Metabolic Disorders, Weisswasser, Germany.

Julia Hoefele (J)

Institute of Human Genetics, Technical University of Munich, Munich, Germany.

Miriam Zacchia (M)

Nephrology Unit, University of Campania, Naples, Italy.

Tamara Nikuseva Martic (TN)

Department of Biology, School of Medicine University of Zagreb, Zagreb, Croatia.

Asheeta Gupta (A)

Birmingham Children's Hospital, Birmingham, United Kingdom.

Albertien van Eerde (A)

Department of Genetics, University Medical Center, Utrecht, The Netherlands.

Susie Gear (S)

Alport UK, United Kingdom.

Samuela Landini (S)

Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio," University of Florence, Florence, Italy.
ORCID: 0000-0001-7423-0325

Viviana Palazzo (V)

Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.

Laith Al-Rabadi (L)

Health Sciences Centre, University of Utah, Salt Lake City, Utah.

Kathleen Claes (K)

Department of Nephrology and Renal Transplantation, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.

Anniek Corveleyn (A)

Center for Human Genetics, University Hospitals and Katholieke Universiteit Leuven, Leuven, Belgium.

Evelien Van Hoof (E)

Center for Human Genetics, University Hospitals and Katholieke Universiteit Leuven, Leuven, Belgium.

Micheel van Geel (M)

Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.

Maggie Williams (M)

Bristol Genetics Laboratory Pathology Sciences, Southmead Hospital, Southmead, United Kingdom.

Emma Ashton (E)

North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, United Kingdom.

Hendica Belge (H)

Institut de Pathologie et de Génétique, Center for Human Genetics, Gosselies, Belgium.

Elisabet Ars (E)

Molecular Biology Laboratory, Fundacio Puigvert, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autonoma de Barcelona, Instituto de Investigación Carlos III, Barcelona, Spain.
ORCID: 0000-0002-4118-4358

Agnieszka Bierzynska (A)

Bristol Renal Unit, Bristol Medical School, University of Bristol, Bristol, United Kingdom.

Concetta Gangemi (C)

Division of Nephrology and Dialysis, University Hospital of Verona, Verona, Italy.

Alessandra Renieri (A)

Department of Medical Biotechnology, Medical Genetics, University of Siena, Siena, Italy.
ORCID: 0000-0002-0846-9220

Helen Storey (H)

Molecular Genetics, Viapath Laboratories, Guy's Hospital, London, United Kingdom.

Frances Flinter (F)

Department of Clinical Genetics, Guy's and St. Thomas' National Health Service Foundation Trust, London, United Kingdom.

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