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Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Saisawat, Pawaree; Kohl, Stefan; Hilger, Alina C; Hwang, Daw-Yang; Yung Gee, Heon; Dworschak, Gabriel C; Tasic, Velibor; Pennimpede, Tracie; Natarajan, Sivakumar; Sperry, Ethan; Matassa, Danilo S; Stajic, Natasa; Bogdanovic, Radovan; de Blaauw, Ivo; Marcelis, Carlo L M; Wijers, Charlotte H W; Bartels, Enrika; Schmiedeke, Eberhard; Schmidt, Dominik; Märzheuser, Stefanie; Grasshoff-Derr, Sabine; Holland-Cunz, Stefan; Ludwig, Michael; Nöthen, Markus M; Draaken, Markus; Brosens, Erwin; Heij, Hugo; Tibboel, Dick; Herrmann, Bernhard G; Solomon, Benjamin D; de Klein, Annelies; van Rooij, Iris A L M; Esposito, Franca; Reutter, Heiko M; Hildebrandt, Friedhelm.
Afiliación
  • Saisawat P; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
  • Kohl S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Hilger AC; 1] Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA [2] Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Hwang DY; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Yung Gee H; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Dworschak GC; 1] Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA [2] Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Tasic V; Department of Pediatric Nephrology, University Children's Hospital, Skopje, Macedonia.
  • Pennimpede T; Developmental Genetics Department, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Natarajan S; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
  • Sperry E; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
  • Matassa DS; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
  • Stajic N; 1] Medical Faculty, University of Belgrade, Belgrade, Serbia [2] Institiute of Mother and Child Healthcare of Serbia, Belgrade, Serbia.
  • Bogdanovic R; 1] Medical Faculty, University of Belgrade, Belgrade, Serbia [2] Institiute of Mother and Child Healthcare of Serbia, Belgrade, Serbia.
  • de Blaauw I; Department of Pediatric Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Marcelis CL; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Wijers CH; Department for Health Evidence, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Bartels E; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Schmiedeke E; Department of Pediatric Surgery and Urology, Center for Child and Adolescent Health, Hospital Bremen-Mitte, Bremen, Germany.
  • Schmidt D; 1] Institute of Human Genetics, University of Bonn, Bonn, Germany [2] Department of Pediatric Surgery, Campus Virchow Clinic, Charité University Hospital Berlin, Berlin, Germany.
  • Märzheuser S; Department of Pediatric Surgery, Campus Virchow Clinic, Charité University Hospital Berlin, Berlin, Germany.
  • Grasshoff-Derr S; Department of Pediatric Surgery, University Hospital Würzburg, Würzburg, Germany.
  • Holland-Cunz S; Department of Pediatric Surgery, University of Heidelberg, Heidelberg, Germany.
  • Ludwig M; Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.
  • Nöthen MM; 1] Institute of Human Genetics, University of Bonn, Bonn, Germany [2] Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.
  • Draaken M; 1] Institute of Human Genetics, University of Bonn, Bonn, Germany [2] Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.
  • Brosens E; 1] Department of Pediatric Surgery, Erasmus MC-Sophia, Rotterdam, The Netherlands [2] Department of Clinical Genetics, Erasmus MC-Sophia, Rotterdam, The Netherlands.
  • Heij H; Pediatric Surgical Center of Amsterdam, Emma Children's Hospital and VuMC, Amsterdam, The Netherlands.
  • Tibboel D; Department of Pediatric Surgery, Erasmus MC-Sophia, Rotterdam, The Netherlands.
  • Herrmann BG; Developmental Genetics Department, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Solomon BD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • de Klein A; Department of Clinical Genetics, Erasmus MC-Sophia, Rotterdam, The Netherlands.
  • van Rooij IA; Department for Health Evidence, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  • Esposito F; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
  • Reutter HM; 1] Institute of Human Genetics, University of Bonn, Bonn, Germany [2] Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany.
  • Hildebrandt F; 1] Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Kidney Int ; 85(6): 1310-7, 2014 Jun.
Article en En | MEDLINE | ID: mdl-24152966
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Canal Anal / Columna Vertebral / Tráquea / Reflujo Vesicoureteral / Análisis Mutacional de ADN / Pruebas Genéticas / Deformidades Congénitas de las Extremidades / Proteínas HSP90 de Choque Térmico / Esófago / Exosomas Tipo de estudio: Clinical_trials / Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Female / Humans / Male País/Región como asunto: America do norte / Europa Idioma: En Revista: Kidney Int Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Canal Anal / Columna Vertebral / Tráquea / Reflujo Vesicoureteral / Análisis Mutacional de ADN / Pruebas Genéticas / Deformidades Congénitas de las Extremidades / Proteínas HSP90 de Choque Térmico / Esófago / Exosomas Tipo de estudio: Clinical_trials / Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Female / Humans / Male País/Región como asunto: America do norte / Europa Idioma: En Revista: Kidney Int Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos