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Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier, Kathrin; Brinker, Leonie; Erger, Florian; Beck, Bodo B; Benz, Marcus R; Bergmann, Carsten; Boyer, Olivia; Collard, Laure; Dafinger, Claudia; Fila, Marc; Kowalewska, Claudia; Lange-Sperandio, Bärbel; Massella, Laura; Mastrangelo, Antonio; Mekahli, Djalila; Miklaszewska, Monika; Ortiz-Bruechle, Nadina; Patzer, Ludwig; Prikhodina, Larisa; Ranchin, Bruno; Ranguelov, Nadejda; Schild, Raphael; Seeman, Tomas; Sever, Lale; Sikora, Przemyslaw; Szczepanska, Maria; Teixeira, Ana; Thumfart, Julia; Uetz, Barbara; Weber, Lutz Thorsten; Wühl, Elke; Zerres, Klaus; Dötsch, Jörg; Schaefer, Franz; Liebau, Max Christoph.
Afiliação
  • Burgmaier K; Department of Pediatrics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Rare Diseases, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany.
  • Brinker L; Department of Pediatrics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany.
  • Erger F; Center for Rare Diseases, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany; Institute of Human Genetics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne,
  • Beck BB; Center for Rare Diseases, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany; Institute of Human Genetics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne,
  • Benz MR; Pediatric Nephrology Dachau, Dachau, Germany.
  • Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; Renal Division, Department of Medicine, University Freiburg Medical Center, Freiburg, Germany.
  • Boyer O; Department of Pediatric Nephrology and Kidney Transplantation, Necker Hospital, APHP, Paris University, Paris, France.
  • Collard L; Reference centre pediatric nephrology, Clinique de l'Espérance, Montegnee, Belgium.
  • Dafinger C; Department of Pediatrics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.
  • Fila M; Pediatric Nephrology Unit, CHU Arnaud de Villeneuve-Université de Montpellier, Montpellier, France.
  • Kowalewska C; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland.
  • Lange-Sperandio B; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU, Munich, Germany.
  • Massella L; Division of Nephrology, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital - IRCCS, Rome, Italy.
  • Mastrangelo A; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.
  • Mekahli D; PKD Research Group, Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium.
  • Miklaszewska M; Department of Pediatric Nephrology and Hypertension, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland.
  • Ortiz-Bruechle N; Institute of Human Genetics, RWTH University Hospital Aachen, Aachen, Germany.
  • Patzer L; Department of Pediatrics, Children's Hospital St. Elisabeth and St. Barbara, Halle (Saale), Germany.
  • Prikhodina L; Department of Inherited and Acquired Kidney Diseases, Research Clinical Institute for Pediatrics n.a. acad. Y. E. Veltishev, Pirogov Russian National Research Medical University, Moscow, Russia.
  • Ranchin B; Pediatric Nephrology Unit, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Centre de référence maladies rénales rares, Bron, France.
  • Ranguelov N; Department of Pediatrics, Université Catholique de Louvain Medical School, Saint-Luc Academic Hospital, Brussels, Belgium.
  • Schild R; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
  • Seeman T; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU, Munich, Germany; Department of Pediatrics, University Hospital Motol, 2nd Faculty of Medicine, Charles University Prague, Prague, Czech Republic.
  • Sever L; Department of Pediatric Nephrology, Cerrahpasa School of Medicine, Istanbul University Cerrahpasa, Istanbul, Turkey.
  • Sikora P; Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland.
  • Szczepanska M; Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Katowice, Poland.
  • Teixeira A; Centro Materno-Infantil do Norte, Centro Hospitalar do Porto, Porto, Portugal.
  • Thumfart J; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Uetz B; KfH Center of Pediatric Nephrology, Children's Hospital Munich Schwabing, Munich, Germany.
  • Weber LT; Department of Pediatrics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Rare Diseases, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany.
  • Wühl E; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Zerres K; Institute of Human Genetics, RWTH University Hospital Aachen, Aachen, Germany.
  • Dötsch J; Department of Pediatrics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Rare Diseases, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany.
  • Schaefer F; Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Liebau MC; Department of Pediatrics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany; Center for Rare Diseases, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Fa
Kidney Int ; 100(3): 650-659, 2021 09.
Article em En | MEDLINE | ID: mdl-33940108
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Child / Child, preschool / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Child / Child, preschool / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article