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Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Zivná, Martina; Kidd, Kendrah; Pristoupilová, Anna; Baresová, Veronika; DeFelice, Mathew; Blumenstiel, Brendan; Harden, Maegan; Conlon, Peter; Lavin, Peter; Connaughton, Dervla M; Hartmannová, Hana; Hodanová, Katerina; Stránecký, Viktor; Vrbacká, Alena; Vyletal, Petr; Zivný, Jan; Votruba, Miroslav; Sovová, Jana; Hulková, Helena; Robins, Victoria; Perry, Rebecca; Wenzel, Andrea; Beck, Bodo B; Seeman, Tomás; Viklický, Ondrej; Rajnochová-Bloudícková, Sylvie; Papagregoriou, Gregory; Deltas, Constantinos C; Alper, Seth L; Greka, Anna; Bleyer, Anthony J; Kmoch, Stanislav.
Afiliación
  • Zivná M; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
  • Kidd K; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.
  • Pristoupilová A; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
  • Baresová V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
  • DeFelice M; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • Blumenstiel B; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • Harden M; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • Conlon P; Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
  • Lavin P; Royal College of Surgeons, Dublin, Ireland.
  • Connaughton DM; Trinity Health Kidney Centre, Tallaght Hospital, Dublin, Ireland.
  • Hartmannová H; Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
  • Hodanová K; Trinity Health Kidney Centre, Tallaght Hospital, Dublin, Ireland.
  • Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
  • Vrbacká A; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
  • Vyletal P; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
  • Zivný J; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
  • Votruba M; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
  • Sovová J; Institute of Pathophysiology, First Faculty of Medicine.
  • Hulková H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
  • Robins V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
  • Perry R; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine.
  • Wenzel A; Institute of Pathology, First Faculty of Medicine, and.
  • Beck BB; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.
  • Seeman T; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.
  • Viklický O; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Rajnochová-Bloudícková S; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
  • Papagregoriou G; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Deltas CC; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
  • Alper SL; Department of Paediatrics, Second Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Greka A; Nephrology Department, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Bleyer AJ; Nephrology Department, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
  • Kmoch S; Molecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.
J Am Soc Nephrol ; 29(9): 2418-2431, 2018 09.
Article en En | MEDLINE | ID: mdl-29967284
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Riñón Poliquístico Autosómico Dominante / Mucina-1 / Predisposición Genética a la Enfermedad Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: J Am Soc Nephrol Asunto de la revista: NEFROLOGIA Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Riñón Poliquístico Autosómico Dominante / Mucina-1 / Predisposición Genética a la Enfermedad Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: J Am Soc Nephrol Asunto de la revista: NEFROLOGIA Año: 2018 Tipo del documento: Article