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Mutations in CSPP1 lead to classical Joubert syndrome.
Akizu, Naiara; Silhavy, Jennifer L; Rosti, Rasim Ozgur; Scott, Eric; Fenstermaker, Ali G; Schroth, Jana; Zaki, Maha S; Sanchez, Henry; Gupta, Neerja; Kabra, Madhulika; Kara, Majdi; Ben-Omran, Tawfeg; Rosti, Basak; Guemez-Gamboa, Alicia; Spencer, Emily; Pan, Roger; Cai, Na; Abdellateef, Mostafa; Gabriel, Stacey; Halbritter, Jan; Hildebrandt, Friedhelm; van Bokhoven, Hans; Gunel, Murat; Gleeson, Joseph G.
Affiliation
  • Akizu N; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Silhavy JL; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Rosti RO; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Scott E; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Fenstermaker AG; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Schroth J; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  • Sanchez H; Pediatrics Department, Palo Alto Medical Foundation, Fremont, CA 94538, USA.
  • Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
  • Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.
  • Kara M; Department of Pediatrics, Tripoli Children's Hospital, PO Box 2214, Tripoli, Libya.
  • Ben-Omran T; Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha 3050, Qatar.
  • Rosti B; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Guemez-Gamboa A; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Spencer E; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Pan R; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Cai N; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Abdellateef M; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute.
  • Gabriel S; The Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA.
  • Halbritter J; Howard Hughes Medical Institute; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Hildebrandt F; Howard Hughes Medical Institute; Division of Nephrology, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • van Bokhoven H; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands.
  • Gunel M; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
  • Gleeson JG; Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute. Electronic address: jogleeson@ucsd.edu.
Am J Hum Genet ; 94(1): 80-6, 2014 Jan 02.
Article in En | MEDLINE | ID: mdl-24360807
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Full text: 1 Database: MEDLINE Main subject: Retina / Cerebellar Diseases / Eye Abnormalities / Gene Deletion / Cell Cycle Proteins / Kidney Diseases, Cystic / Microtubule-Associated Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2014 Type: Article
Fulltext
Add to My VHL
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Full text: 1 Database: MEDLINE Main subject: Retina / Cerebellar Diseases / Eye Abnormalities / Gene Deletion / Cell Cycle Proteins / Kidney Diseases, Cystic / Microtubule-Associated Proteins Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2014 Type: Article