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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton, Emma J; Legrand, Anne; Benoit, Valerie; Roncelin, Isabelle; Venisse, Annabelle; Zennaro, Maria-Christina; Jeunemaitre, Xavier; Iancu, Daniela; Van't Hoff, William G; Walsh, Stephen B; Godefroid, Nathalie; Rotthier, Annelies; Del Favero, Jurgen; Devuyst, Olivier; Schaefer, Franz; Jenkins, Lucy A; Kleta, Robert; Dahan, Karin; Vargas-Poussou, Rosa; Bockenhauer, Detlef.
Affiliation
  • Ashton EJ; North East Thames Regional Genetics Service Laboratories, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
  • Legrand A; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Faculty of Medicine, Paris Sorbonne Cité, Université Paris Descartes, Paris, France.
  • Benoit V; Center of Human Genetics, Institut de Pathologie et Génétique, Gosselies, Belgium.
  • Roncelin I; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.
  • Venisse A; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.
  • Zennaro MC; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Faculty of Medicine, Paris Sorbonne Cité, Université Paris Descartes, Paris, France; Institut National de la Santé et la Recherche Médicale, Unité Mixte de Recherche en Santé 970, Paris-C
  • Jeunemaitre X; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Faculty of Medicine, Paris Sorbonne Cité, Université Paris Descartes, Paris, France; Institut National de la Santé et la Recherche Médicale, Unité Mixte de Recherche en Santé 970, Paris-C
  • Iancu D; Centre for Nephrology, University College London, London, UK.
  • Van't Hoff WG; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Walsh SB; Centre for Nephrology, University College London, London, UK.
  • Godefroid N; Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium.
  • Rotthier A; Multiplicom N.V. (a part of Agilent Technologies), Niel, Belgium.
  • Del Favero J; Multiplicom N.V. (a part of Agilent Technologies), Niel, Belgium.
  • Devuyst O; Institute of Physiology, Zurich Center for Integrative Human Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland; Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium.
  • Schaefer F; Division of Paediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany.
  • Jenkins LA; North East Thames Regional Genetics Service Laboratories, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
  • Kleta R; Centre for Nephrology, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Dahan K; Center of Human Genetics, Institut de Pathologie et Génétique, Gosselies, Belgium; Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium.
  • Vargas-Poussou R; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Faculty of Medicine, Paris Sorbonne Cité, Université Paris Descartes, Paris, France. Electronic address: rosa.vargas@aphp.fr.
  • Bockenhauer D; Centre for Nephrology, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address: d.bockenhauer@ucl.ac.uk.
Kidney Int ; 93(4): 961-967, 2018 04.
Article in En | MEDLINE | ID: mdl-29398133
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Full text: 1 Database: MEDLINE Main subject: Renal Tubular Transport, Inborn Errors / DNA Mutational Analysis / High-Throughput Nucleotide Sequencing / Mutation Type of study: Clinical_trials / Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: Europa Language: En Journal: Kidney Int Year: 2018 Type: Article Affiliation country: United kingdom
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Full text: 1 Database: MEDLINE Main subject: Renal Tubular Transport, Inborn Errors / DNA Mutational Analysis / High-Throughput Nucleotide Sequencing / Mutation Type of study: Clinical_trials / Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: Europa Language: En Journal: Kidney Int Year: 2018 Type: Article Affiliation country: United kingdom