Recommendations for Evaluation and Monitoring of Patients with Joubert Syndrome and Related Disorders Update on the genes that cause Joubert Syndrome By Melissa Parisi, MD, PhD - August 5, 2006 NPHP1 Gene Deletion is a rare cause of Joubert Syndrome related disorders By M Castori, E M Valente, M A Donati, S Salvi, E Fazzi, E Procopio, T Galluccio, F Emma, B Dallapiccola, E Bertini the Italian MTS Study Group - February 21, 2005 Researchers Identify Joubert Syndrome Genes Released Monday February 7, 2005 from NINDS Gene for Joubert Syndrome with Excessive Brain Folds Discovered by UCSD Researchers and Harvard Team Press Release Oct 19, 2004 Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria by the Scientists of UC San Diego - Oct 2004 Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert Syndrome by Russell J. Ferland, Wafaa Eyaid, Randall V. Collura, Laura D. Tully, R. Sean Hill, Doha Al-Nouri, Ahmed Al-Rumayyan, Meral Topcu, Generoso Gascon, Adria Bodell, Yin Yao Shugart, Maryellen Ruvolo, Christopher A. Walsh Focus on prenatal diagnosis at the JSF meeting by Dr. I Glass and Dr. D Doherty The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 Jul;75(1):82-91 Summary of NPHP1 gene identification by Melissa Parisi, MD, PhD and Ian Glass, MD, University of Washington, Seattle, WA - 2004 Third Joubert Syndrome Locus on Chromosome 6 mapped by European Group by Eugene Boltshauser - Jan 2004 Scientists Responses: Some questions to the groups of Geneticists who are working on Joubert Syndrome University of Washington - Dr. Philip Chance's office by Melissa Parisi, M.D., PhD University of San Diego - Dr. Joseph Gleeson UCSD Researchers Identify Chromosome Location for 2nd Form of Joubert Syndrome By Dr. Joseph Gleeson and additional researchers - Sept 3, 2003 Future Research Directions in Joubert Syndrome Summary and Future Research discussion at Scientific Symposium at the 2002 Joubert Syndrome Foundation Conference New Orleans, June 27 - 28, 2002. Breaking Research News by Bernard L. Maria, MD, MBA Research Emphasis Area on Joubert Syndrome by Phillip F. Chance, MD CHDD Forms new research center on Joubert Syndrome and other disorders of the cerebellum by the Center on Human Development and Disability at the University of Washington GeneReviews links to web sites of organizations that are national/international in scope, have a professional advisory board (or other internal or external mechanism for scientific review) and provide information that supplements the GeneReviews entry. See GeneReviews entry on Joubert Syndrome please use the following URL: http://www.geneclinics.org/query?dz=joubert