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1.
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7 p, 675.0 KB |
Somatic genetic variation in healthy tissue and non-cancer diseases
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Solís-Moruno, Manuel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Batlle-Masó, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Bonet, Núria (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Aróstegui, Juan Ignacio (Universitat de Barcelona) ;
Casals, Ferran (Universitat de Barcelona. Institut de Biomedicina) ;
Universitat Autònoma de Barcelona
Somatic genetic variants have been studied for several years mostly concerning cancer, where they contribute to its origin and development. It is also clear that the somatic variants load is greater in aged individuals in comparison to younger ones, pointing to a cause/consequence of the senescence process. [...]
2022 -  10.1038/s41431-022-01213-8
European Journal of Human Genetics, Vol. 31 (october 2022) , p. 48-54
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9 p, 736.4 KB |
Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer : a prospective study
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Brédart, Anne (Paris University. Psychopathology and Health Process Laboratory) ;
Kop, Jean-Luc (Université de Lorraine, 2LPN) ;
Tüchler, Anja (Center for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University Hospital of Cologne, University of Cologne) ;
De Pauw, Antoine (INSERM U830, Paris University. Institut Curie, Department of Genetics) ;
Cano, Alejandra (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ;
Dick, Julia (Cancer Center Cologne) ;
Rhiem, Kerstin (Center for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University Hospital of Cologne, University of Cologne) ;
Devilee, Peter (Leiden University Medical Centre, Department of Human Genetics, Department of Pathology, S4-P) ;
Schmutzler, Rita (Center for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University Hospital of Cologne, University of Cologne) ;
Stoppa-Lyonnet, Dominique (INSERM U830, Paris University. Institut Curie, Department of Genetics) ;
Dolbeault, Sylvie (CESP, University Paris-Sud, UVSQ, INSERM, University Paris-Saclay)
We examined how often genetic clinicians correctly identify psychosocial difficulties in women at high breast cancer risk and explored effects of this assessment and the genetic test result on counselees' distress. [...]
2022 - 10.1038/s41431-022-01096-9
European Journal of Human Genetics, Vol. 30 (april 2022) , p. 1067-1075
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3.
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10 p, 1.7 MB |
The 2019 and 2021 International Workshops on Alport Syndrome
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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 (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) ;
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 Santariskiu Clinics) ;
Gear, Susie (Alport UK, Tetbury, UK) ;
Gross, Oliver (University Medical Center Göttingen) ;
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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4.
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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
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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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10 p, 1.0 MB |
The International Rare Diseases Research Consortium : Policies and Guidelines to maximize impact
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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 P. L. (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 J. S. (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
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10 p, 459.9 KB |
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis : toward an international consensus
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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
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8 p, 444.5 KB |
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome : mutations in multiple glomerular genes may influence disease severity
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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 (Centre de Regulació Genòmica) ;
Mendizábal, Santiago (Hospital Universitari i Politècnic La Fe (València)) ;
Fraga Rodríguez, Gloria María (Institut d'Investigació Biomèdica Sant Pau) ;
Madrid, Alvaro (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, Elisabet (Institut d'Investigació Biomèdica Sant Pau)
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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