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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Van De Weghe, Julie C; Rusterholz, Tamara D S; Latour, Brooke; Grout, Megan E; Aldinger, Kimberly A; Shaheen, Ranad; Dempsey, Jennifer C; Maddirevula, Sateesh; Cheng, Yong-Han H; Phelps, Ian G; Gesemann, Matthias; Goel, Himanshu; Birk, Ohad S; Alanzi, Talal; Rawashdeh, Rifaat; Khan, Arif O; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Dobyns, William B; Alkuraya, Fowzan S; Roepman, Ronald; Bachmann-Gagescu, Ruxandra; Doherty, Dan.
Afiliação
  • Van De Weghe JC; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Rusterholz TDS; Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland.
  • Latour B; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Grout ME; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Aldinger KA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.
  • Dempsey JC; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.
  • Cheng YH; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Phelps IG; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Gesemann M; Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland.
  • Goel H; Hunter Genetics, Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia.
  • Birk OS; Genetics Institute, Soroka Medical Center and National Institute for Biotechnology in the Negev (NIBN), Ben Gurion University, Beer Sheva 8499000, Israel.
  • Alanzi T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.
  • Rawashdeh R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.
  • Khan AO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
  • Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Neuhauss SCF; Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland.
  • Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Neurology, University of Washington, Seattle, WA 98195, USA.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12
  • Roepman R; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
  • Bachmann-Gagescu R; Institute of Molecular Life Sciences, University of Zurich, 8057 Zurich, Switzerland; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland. Electronic address: ruxandra.bachmann@imls.uzh.ch.
  • Doherty D; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address: ddoher@uw.edu.
Am J Hum Genet ; 101(1): 23-36, 2017 Jul 06.
Article em En | MEDLINE | ID: mdl-28625504
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Peixe-Zebra / Cerebelo / Anormalidades do Olho / Proteínas de Peixe-Zebra / Doenças Renais Císticas / Proteínas do Domínio Armadillo / Corpos Basais / Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Peixe-Zebra / Cerebelo / Anormalidades do Olho / Proteínas de Peixe-Zebra / Doenças Renais Císticas / Proteínas do Domínio Armadillo / Corpos Basais / Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos