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Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
Riedhammer, Korbinian M; Braunisch, Matthias C; Günthner, Roman; Wagner, Matias; Hemmer, Clara; Strom, Tim M; Schmaderer, Christoph; Renders, Lutz; Tasic, Velibor; Gucev, Zoran; Nushi-Stavileci, Valbona; Putnik, Jovana; Stajic, Natasa; Weidenbusch, Marc; Uetz, Barbara; Montoya, Carmen; Strotmann, Peter; Ponsel, Sabine; Lange-Sperandio, Baerbel; Hoefele, Julia.
Afiliação
  • Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Braunisch MC; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Günthner R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Hemmer C; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Schmaderer C; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Renders L; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.
  • Tasic V; University Children's Hospital, Medical Faculty of Skopje, Macedonia.
  • Gucev Z; University Children's Hospital, Medical Faculty of Skopje, Macedonia.
  • Nushi-Stavileci V; Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo.
  • Putnik J; Institute for Mother and Child Health Care of Serbia "Dr Vukan Cupic", Department of Nephrology, University of Belgrade, Faculty of Medicine, Belgrade, Serbia.
  • Stajic N; Institute for Mother and Child Health Care of Serbia "Dr Vukan Cupic", Department of Nephrology, University of Belgrade, Faculty of Medicine, Belgrade, Serbia.
  • Weidenbusch M; Nephrologisches Zentrum, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Ludwig-Maximilians University, Munich, Germany.
  • Uetz B; München-Klinik Schwabing, Klinikum rechts der Isar, Technical University of Munich, Children's Hospital, Pediatric Nephrology, Munich, Germany; KfH-Kindernierenzentrum, Munich, Germany.
  • Montoya C; KfH-Kindernierenzentrum, Munich, Germany.
  • Strotmann P; München-Klinik Schwabing, Klinikum rechts der Isar, Technical University of Munich, Children's Hospital, Pediatric Nephrology, Munich, Germany.
  • Ponsel S; Division of Pediatric Nephrology, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany.
  • Lange-Sperandio B; Division of Pediatric Nephrology, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians University, Munich, Germany.
  • Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany. Electronic address: julia.hoefele@tum.de.
Am J Kidney Dis ; 76(4): 460-470, 2020 10.
Article em En | MEDLINE | ID: mdl-32359821
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Sequenciamento do Exoma / Nefropatias Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Sequenciamento do Exoma / Nefropatias Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article