Medical Articles
Recommendations for Evaluation and Monitoring of
Patients with Joubert Syndrome and Related Disorders
Genetic Testing and Joubert Syndrome
January 2008
Update on the genetics of Joubert syndrome and genetic
testing options
By Melissa Parisi, MD, PhD - January 2008
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
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
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.
Cerebello-oculo-renal syndromes including Arima,
Senior-Löken and COACH syndromes: More than just
variants of Joubert syndrome
Daniel Satran, Mary Ella M. Pierpont, William B. Dobyns
American Journal of Medical Genetics
Volume 86, Issue 5, 1999. Pages 459-469
Copyright © 1999 Wiley-Liss, Inc.
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