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Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi, Reza; Strauss, Justin E; Zenker, Martin; Beuing, Oliver; Edvardson, Simon; Elpeleg, Orly; Strom, Tim M; Joset, Pascal; Niedrist, Dunja; Otte, Christine; Oneda, Beatrice; Boonsawat, Paranchai; Azzarello-Burri, Silvia; Bartholdi, Deborah; Papik, Michael; Zweier, Markus; Haas, Cordula; Ekici, Arif B; Baumer, Alessandra; Boltshauser, Eugen; Steindl, Katharina; Nothnagel, Michael; Schinzel, Albert; Stoeckli, Esther T; Rauch, Anita.
Affiliation
  • Asadollahi R; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Strauss JE; Institute of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.
  • Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Beuing O; Institute of Neuroradiology, Otto-von-Guericke-University Magdeburg, Magdeburg, Germany.
  • Edvardson S; Pediatric Neurology Unit, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Joset P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Niedrist D; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Otte C; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Oneda B; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Boonsawat P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Azzarello-Burri S; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Bartholdi D; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Papik M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Zweier M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Haas C; Zurich Institute of Forensic Medicine, University of Zurich, Zurich, Switzerland.
  • Ekici AB; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Baumer A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Boltshauser E; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
  • Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Nothnagel M; Cologne Center for Genomics, Department of Statistical Genetics and Bioinformatics, University of Cologne, Cologne, Germany.
  • Schinzel A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Stoeckli ET; Institute of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.
  • Rauch A; Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland.
Eur J Hum Genet ; 26(2): 197-209, 2018 02.
Article in En | MEDLINE | ID: mdl-29321670
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retina / Abnormalities, Multiple / Cerebellum / Eye Abnormalities / Kinesins / Kidney Diseases, Cystic / Hedgehog Proteins / Acrocallosal Syndrome / Membrane Proteins Limits: Adult / Animals / Child / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Suiza Country of publication: Reino Unido
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retina / Abnormalities, Multiple / Cerebellum / Eye Abnormalities / Kinesins / Kidney Diseases, Cystic / Hedgehog Proteins / Acrocallosal Syndrome / Membrane Proteins Limits: Adult / Animals / Child / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Suiza Country of publication: Reino Unido