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High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux, Marguerite; Ashton, Emma; Dahan, Karin; Houillier, Pascal; Blanchard, Anne; Cormier, Catherine; Koumakis, Eugenie; Iancu, Daniela; Belge, Hendrica; Hilbert, Pascale; Rotthier, Annelies; Del Favero, Jurgen; Schaefer, Franz; Kleta, Robert; Bockenhauer, Detlef; Jeunemaitre, Xavier; Devuyst, Olivier; Walsh, Stephen B; Vargas-Poussou, Rosa.
Afiliación
  • Hureaux M; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Paris, France; Paris Descartes Université, Sorbonne Paris Cité, Paris, France.
  • Ashton E; North East Thames Regional Genetics Service Laboratories, Great Ormond Street Hospital for Children National Health Service 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.
  • Houillier P; Paris Descartes Université, Sorbonne Paris Cité, Paris, France; Department of Physiological Functional Investigations, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Paris, France.
  • Blanchard A; Paris Descartes Université, Sorbonne Paris Cité, Paris, France; Assistance Publique Hôpitaux des Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Centre d'Investigation Clinique 1418, Paris, France.
  • Cormier C; Rheumatology Department, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Reference Center for Rare Calcium and Phosphate Diseases, Paris, France.
  • Koumakis E; Rheumatology Department, Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Reference Center for Rare Calcium and Phosphate Diseases, Paris, France.
  • Iancu D; Department of Renal Medicine, University College London, London, UK.
  • Belge H; Center of Human Genetics, Institut de Pathologie et Génétique, Gosselies, Belgium.
  • Hilbert P; Center of Human Genetics, Institut de Pathologie et Génétique, Gosselies, 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.
  • Schaefer F; Paediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany.
  • Kleta R; Department of Renal Medicine, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, UK.
  • Bockenhauer D; Department of Renal Medicine, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, UK.
  • Jeunemaitre X; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Paris, France; Paris Descartes Université, Sorbonne Paris Cité, Paris, France.
  • Devuyst O; Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium; Institute of Physiology, Zurich Center for Integrative Human Physiology (ZIHP), Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland. Electronic address: olivier.devuyst@u
  • Walsh SB; Department of Renal Medicine, University College London, London, UK. Electronic address: stephen.walsh@ucl.ac.uk.
  • Vargas-Poussou R; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Paris, France. Electronic address: rosa.vargas@aphp.fr.
Kidney Int ; 96(6): 1408-1416, 2019 12.
Article en En | MEDLINE | ID: mdl-31672324
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hipofosfatemia / Síndrome de Gitelman / Hipercalcemia Tipo de estudio: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Qualitative_research / Risk_factors_studies Límite: Adult / Humans Idioma: En Revista: Kidney Int Año: 2019 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hipofosfatemia / Síndrome de Gitelman / Hipercalcemia Tipo de estudio: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Qualitative_research / Risk_factors_studies Límite: Adult / Humans Idioma: En Revista: Kidney Int Año: 2019 Tipo del documento: Article País de afiliación: Francia