Dipòsit Digital de Documents de la UAB 5 registres trobats  La cerca s'ha fet en 0.01 segons. 
1.
10 p, 1.7 MB The 2019 and 2021 International Workshops on Alport Syndrome / Daga, Sergio (University of Siena) ; Ding, Jie (Peking University First Hospital) ; Savige, Judy (The University of Melbourne) ; Lipska-Ziętkiewicz, Beata S. (Medical University of Gdańsk) ; Hoefele, Julia (Technical University of Munich) ; Flinter, Frances (Guys' and St Thomas' NHS Foundation Trust) ; Gale, Daniel P. (UK Renal Registry. Rare Renal Disease Registry) ; Aksenova, Marina (Y. Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University) ; Kai, Hirofumi (Kumamoto University) ; Perin, Laura (University of Southern California) ; Barua, Moumita (University of Toronto) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Miner, Jeff H. (Washington University School of Medicine) ; Massella, Laura (Bambino Gesù Children's Hospital-IRCCS) ; Ljubanović, Danica Galešić (University of Zagreb) ; Lennon, Rachel (The University of Manchester) ; Weinstock, Andrè B. (Alport Syndrome Foundation) ; Knebelmann, Bertrand (Paris University, Paris, France) ; Cerkauskaite, Agne (Vilnius University Hospital Santaros Klinikos) ; Gear, Susie (Alport UK, Tetbury, UK) ; Gross, Oliver (University Medicine Goettingen) ; Turner, A. Neil (University of Edinburgh) ; Baldassarri, Margherita (Azienda Ospedaliero-Universitaria Senese) ; Pinto, Anna Maria (Azienda Ospedaliero-Universitaria Senese) ; Renieri, Alessandra (Azienda Ospedaliero-Universitaria Senese) ; Universitat Autònoma de Barcelona
In 1927 Arthur Cecil Alport, a South African physician, described a British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated with hearing loss. [...]
2022 - 10.1038/s41431-022-01075-0
European Journal of Human Genetics, march 2022, p. 1-10  
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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) ; Ljubanovic, Danica Galesic (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  
3.
10 p, 1.0 MB The International Rare Diseases Research Consortium : Policies and Guidelines to maximize impact / Lochmüller, Hanns (Newcastle Upon Tyne, UK) ; Torrent i Farnell, Josep (Universitat Autònoma de Barcelona. Departament de Farmacologia, de Terapèutica i de Toxicologia) ; Le Cam, Yann (Paris, France) ; Jonker, Anneliene H (IRDiRC Scientific Secretariat, Inserm US-14, Paris, France) ; Lau, Lilian PL (IRDiRC Scientific Secretariat, Inserm US-14, Paris, France) ; Baynam, Gareth (Western Australian Register of Developmental Anomalies, WA Perth, Australia) ; Kaufmann, Petra (Bethesda, MD USA) ; Dawkins, Hugh JS (Perth, WA Australia) ; Lasko, Paul (Montréal, QC Canada) ; Austin, Christopher P (Bethesda, MD USA) ; Boycott, Kym M (Ottawa, ON Canada)
The International Rare Diseases Research Consortium (IRDiRC) has agreed on IRDiRC Policies and Guidelines, following extensive deliberations and discussions in 2012 and 2013, as a first step towards improving coordination of research efforts worldwide. [...]
2017 - 10.1038/s41431-017-0008-z
European Journal of Human Genetics, Vol. 25 (november 2017) , p. 1293-1302  
4.
10 p, 459.9 KB The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis : toward an international consensus / Girardet, Anne (Unité INSERM U827) ; Viart, Victoria (Unité INSERM U827) ; Plaza, Stéphanie (Unité INSERM U827) ; Daina Noves, Gemma (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; De Rycke, Martine (Center for Medical Genetics UZ Brussel) ; Des Georges, Marie (Unité INSERM U827) ; Fiorentino, Francesco (Genoma Laboratories) ; Harton, Gary (Reprogenetics) ; Ishmukhametova, Aliya (Unité INSERM U827) ; Navarro i Ferreté, Joaquima (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Raynal, Caroline (Unité INSERM U827) ; Renwick, Pamela (Center for Preimplantation Genetic Diagnosis, Guy's and St Thomas' NHS Foundation Trust) ; Saguet, Florielle (Unité INSERM U827) ; Schwarz, Martin (Manchester Centre for Genomic Medicine) ; SenGupta, Sioban (UCL Center for PGD, Institute for Women's Health, University College London) ; Tzetis, Maria (Department of Medical Genetics, University of Athens) ; Roux, Anne-Françoise (Unité INSERM U827) ; Claustres, Mireille (Unité INSERM U827)
Cystic fibrosis (CF) is one of the most common indications for preimplantation genetic diagnosis (PGD) for single gene disorders, giving couples the opportunity to conceive unaffected children without having to consider termination of pregnancy. [...]
2015 - 10.1038/ejhg.2015.99
European Journal of Human Genetics, Vol. 24 (May 2015) , p. 469-478  
5.
8 p, 444.5 KB Targeted next-generation sequencing in steroid-resistant nephrotic syndrome : mutations in multiple glomerular genes may influence disease severity / Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ; Trujillano, Daniel (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Santín, Sheila (Institut d'Investigació Biomèdica Sant Pau) ; Ossowski, Stephan (Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG)) ; Mendizábal, Santiago (Hospital Universitari i Politècnic La Fe de València) ; Fraga Rodríguez, Gloria María (Institut d'Investigació Biomèdica Sant Pau) ; Madrid, Álvaro (Hospital Universitari Vall d'Hebron) ; Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ; Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Estivill, Xavier (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Instituto de Salud Carlos III
Genetic diagnosis of steroid-resistant nephrotic syndrome (SRNS) using Sanger sequencing is complicated by the high genetic heterogeneity and phenotypic variability of this disease. We aimed to improve the genetic diagnosis of SRNS by simultaneously sequencing 26 glomerular genes using massive parallel sequencing and to study whether mutations in multiple genes increase disease severity. [...]
2014 - 10.1038/ejhg.2014.252
European Journal of Human Genetics, Vol. 23 (november 2014) , p. 1192-1199  

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