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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Macia, Maxence S; Halbritter, Jan; Delous, Marion; Bredrup, Cecilie; Gutter, Arthur; Filhol, Emilie; Mellgren, Anne E C; Leh, Sabine; Bizet, Albane; Braun, Daniela A; Gee, Heon Y; Silbermann, Flora; Henry, Charline; Krug, Pauline; Bole-Feysot, Christine; Nitschké, Patrick; Joly, Dominique; Nicoud, Philippe; Paget, André; Haugland, Heidi; Brackmann, Damien; Ahmet, Nayir; Sandford, Richard; Cengiz, Nurcan; Knappskog, Per M; Boman, Helge; Linghu, Bolan; Yang, Fan; Oakeley, Edward J; Saint Mézard, Pierre; Sailer, Andreas W; Johansson, Stefan; Rødahl, Eyvind; Saunier, Sophie; Hildebrandt, Friedhelm; Benmerah, Alexandre.
Afiliación
  • Macia MS; INSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Halbritter J; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Nephrology, Department of Internal Medicine, University Clinic Leipzig, 04103 Leipzig, Germany.
  • Delous M; INSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Bredrup C; Department of Ophthalmology, Haukeland University Hospital, 5021 Bergen, Norway; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway.
  • Gutter A; INSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Filhol E; INSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Mellgren AEC; Department of Ophthalmology, Haukeland University Hospital, 5021 Bergen, Norway; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, 5021 Bergen, Norway.
  • Leh S; Department of Clinical Medicine, University of Bergen, 5021 Bergen, Norway; Department of Pathology, Haukeland University Hospital, 5021 Bergen, Norway.
  • Bizet A; INSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Braun DA; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Gee HY; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Silbermann F; INSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Henry C; INSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Krug P; INSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Pediatric Nephrology Department, Necker-Enfants Malades Hospital, 75015 Paris, France.
  • Bole-Feysot C; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Inserm UMR-1163, Genomic Core Facility, 75015 Paris, France.
  • Nitschké P; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Bioinformatics Core Facility, 75015 Paris, France.
  • Joly D; Nephrology Department, Necker -Enfants Malades Hospital, 75015 Paris, France.
  • Nicoud P; Hemodialysis-Nephrology Department, Mont-Blanc Hospitals, 74700 Sallanches, France.
  • Paget A; Hemodialysis-Nephrology Department, Mont-Blanc Hospitals, 74700 Sallanches, France.
  • Haugland H; Department of Ophthalmology, Førde Central Hospital, 6812 Førde, Norway.
  • Brackmann D; Department of Pediatrics, Haukeland University Hospital, 5021 Bergen, Norway.
  • Ahmet N; University of Istanbul, 34452 Istanbul, Turkey.
  • Sandford R; Academic Department of Medical Genetics, University of Cambridge, CB2 0QQ Cambridge, UK.
  • Cengiz N; Baskent University, 06810 Ankara, Turkey.
  • Knappskog PM; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.
  • Boman H; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway.
  • Linghu B; Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA.
  • Yang F; Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA.
  • Oakeley EJ; Novartis Institutes for Biomedical Research, 4002 Basel, Switzerland.
  • Saint Mézard P; Novartis Institutes for Biomedical Research, 4002 Basel, Switzerland.
  • Sailer AW; Novartis Institutes for Biomedical Research, 4002 Basel, Switzerland.
  • Johansson S; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.
  • Rødahl E; Department of Ophthalmology, Haukeland University Hospital, 5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, 5021 Bergen, Norway.
  • Saunier S; INSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France. Electronic address: sophie.saunier@inserm.fr.
  • Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
  • Benmerah A; INSERM, UMR-1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Am J Hum Genet ; 100(2): 323-333, 2017 02 02.
Article en En | MEDLINE | ID: mdl-28089251
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Péptidos y Proteínas de Señalización Intracelular / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Péptidos y Proteínas de Señalización Intracelular / Enfermedades Renales Quísticas Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Francia