The information and resources on the Division of Medical Genetics Web Site are for educational purposes only. The Division of Medical Genetics Web Site is not engaged in rendering medical advice or professional services. The information provided through the Division of Medical Genetics Web Site or any links from the Division of Medical Genetics Web Site should not be used for diagnosing or treating a health problem or a disease. It is not a substitute for professional care. If you have health related questions you should consult your health care provider.

Marfans: Information from the National Marfan Foundation "Connective Issues"
       ISSUE: Winter 2007, Vol. 26, No.1
              Tips for Better Communication with Your Doctor (Pg 8-9)
              What You Need to Know About Echocardiograms (Pg 10)
              Support for NMF Members with Related Connective Tissue Disorders(Pg 11)

Joubert Syndrome and related cerebellar disorders Website: www.joubertsyndrome.org

              Uncommon Syndromes of Cerebellar Vermis Aplasia I: Joubert Syndrome
              E. Boltshauser, R.L. Friede
              Develop. Med. Child Neurol., 1978, 20, 758-763

              Joubert Syndrome Revisited: Key Ocular Motor Signs With Magnetic Resonance               Imaging Correlation
              Dr. B. Maria et al
              Journal of Child Neurology, Vol 12 pp 423-430, 1997

              Neurobehavioral Development in Joubert Syndrome
              J. Gitten, BS; D. Dede, PhD; E. Fennel, PhD; R. Quisling, MD; B. Maria, MD, MBA
              Journal of Child Neurology, Vol 13 pp 391-397, 1998

              Follow Up in Children with Joubert Syndrome
              E. Boltshauser, M. Steinlin, K. Landau , M. Schmid
              Neuropediatrics 28 (1997) 204-211

              Cerebellar Dysplasias in Humans: Developmental and Possible Relationship
              to Glial and Primitive Neuroectodermal Tumors of the Cerebellar Vermis.
              A. Yachnis, L. Rorke, J. Trojanowski
              Journal of Neuropathology and Experimental Neurology
              Vol. 53 No. 1 January, 1994 pp. 61-71

              Joubert Syndrome: Are Kidneys Involved?
              E. Boltshauser, I Forster, T. Deonna, U. Willi
              Neuropediatrics 26 (1995) 320-321

              Clinical Features of Develop. Disability Associated With Cerebellar Hypoplasia
              M. Shevell, A. Majnemer
              Pediatric Neurology Vol. 15 No. 3

              Clinical and Molecular Analysis in Joubert Syndrome
              J. Pellegrino, M. Lensch, M. Muenke, P. Chance
              American Journal of Medical Genetics 72: 59-62 (1997)

              Joubert syndrome: A haplotype segregation strategy and exclusion of the zinc
              finger protein of cerebellum 1 (ZIC1) gene
              Craig L. Bennett, Melissa A. Parisi, Melissa L. Eckert, Huy M. Huynh, Phillip F. Chance,
                            Ian A. Glass
              American Journal of Medical Genetics Part A
              Volume 125A, Issue 2, 2004. Pages 117-124
              Copyright © 2003 Wiley-Liss, Inc.