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Joubert Syndrome: more detail

Genodermatoses: Turner Syndrome, Joubert Syndrome, Neurofibromatosis, Von Hippel-lindau Disease, Tuberous Sclerosis, Freeman-Sheldon Syndrome

Shannadoah: A Journey of Discovery About Dandy Walker, Joubert Syndrome, Helpful Resources and More by Shelley Boulet, 2003-04

The Official Parent's Sourcebook on Joubert Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30

Joubert syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Kevin, MS, CGC Sweet, 2005

Joubert syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Kevin, MS, CGC Sweet, Rosalyn, MD Carson-DeWitt, 2005

Malformation Du Système Nerveux: Spina Bifida, Lissencéphalie, Malformations Congénitales Du Système Nerveux Central, Syndrome de Joubert (French Edition)

Fibrocystic Diseases of the Liver (Clinical Gastroenterology)

lists with details

Health Library - Joubert Syndrome
My Personal Health Site Search Advanced Search. joubert syndrome. Self Help Clearinghouse.joubert syndrome Foundation. International network.
http://www.covenanthealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29j
Diseases Database Disease, Symptom, Sign, Etc Alphabetical Index : J Diseases Da
direct) see Septic arthropathy Joint laxity see Joint hypermobility Joint painor swelling or disorder see Arthropathy joubert syndrome JoubertBoltshauser
http://www.diseasesdatabase.com/sieve/disease_index_j.asp
Linkportal: Einzelne Behinderungsbilder/Joubert Syndrome
Translate this page Übersicht Einzelne Behinderungsbilder joubert syndrome. Kategorien Linksjoubert syndrome Foundation The joubert syndrome Foundation Corp.
http://www.sonderpaed.de/portal/links/5/61/
EnableNet - Enablenet.browse.browse
Dis Intellectual and Developmental joubert syndrome JoubertSyndrome Matching Resources. Records 11 of 1 Website Joubert
http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2792
Current Genomics, Vol. 4, No. 2, 2003
Clinical and Genetic Aspects of the joubert syndrome a Disorder Characterised byCerebellar Vermian Hypoplasia and Accompanying Brainstem Malformations Pp.
http://www.bentham.org/cg/cg4-2.htm

Extractions: [Back to Contents Page] [Back to Home Page] Current Genomics, Vol. 4, No. 2, 2003 Contents Gene Mining and Functional Genomics in Human Osteoarthritis Pp. 109-121 M.G. Attur, M.N. Dave, and A.R. Amin [Abstract] Clinical and Genetic Aspects of the Joubert Syndrome: a Disorder Characterised by Cerebellar Vermian Hypoplasia and Accompanying Brainstem Malformations Pp. 123-129 C.L. Bennett, J. Meuleman, P.F. Chance and I.A. Glass [Abstract] Review of Common Sequence Alignment Methods: Clues to Enhance Reliability Pp. 131-146 Christophe Lambert, Jean-Marc Van Campenhout, Xavier DeBolle and Eric Depiereux [Abstract] Human Kallikreins: Common Structural Features, Sequence Analysis and Evolution Pp. 147-165 George M. Yousef and Eleftherios P. Diamandis [Abstract] Assessment of Gene Transfer Using Imaging Methodology Pp. 167-184 Annette Altmann, and Uwe Haberkorn [Abstract] Approaches to Quantification of RNA Targets by PCR Based Techniques Pp. 185-204 F. Watzinger, and T. Lion [Abstract] [Back to top] Gene Mining and Functional Genomics in Human Osteoarthritis M.G. Attur, M.N. Dave, and A.R. Amin
Joubert's Syndrome (www.whonamedit.com)
joubert's syndrome A rare, genetic disorder that affects the area of the brain that controls balance and coordination. Also known as joubertBoltshauser syndrome.
http://www.whonamedit.com/synd.cfm/2702.html

Extractions: A rare familial syndrome characterised by episodic panting in the newborn and jerky eye movements in the neonatal period with later the development of mental retardation, cerebellar ataxia and episodic hyperpnoea with hyperventilation. Pathological features are brainstem malformation and agenesis of the vermis of the cerebellum. Both sexes affected, onset in early infancy. Mast patients die in infancy or early childhood. The syndrome is believed to be transmitted as an autosomal recessive trait. Etiology unknown.
Database Search Results
Database Search Results. Searched keywords for joubert's syndrome.
http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Joubert's Syndrome
Joubert (Syndrome De -)
joubert (syndrome de -) joubert (syndrome de -). Des chercheurs
http://www.frm.org/informez/info_ressources_maladies_fiche.php?id=45
Joubert's Syndrome
Expand your medical search to other sites by only one click . ForMedical Professionals only. joubert's syndrome,, Print this article,
http://www.amershamhealth.com/medcyclopaedia/Volume VI 1/JOUBERTS SYNDROME.asp

Extractions: *For Medical Professionals only, registration required Joubert's syndrome, (Marie Joubert, 20th century, Canadian neurologist), belongs to the group of cerebellar hypoplasias and is characterized by vermian hypoplasia or aplasia with cerebellar hemispheres that appear disconnected on MR. This is an autosomal recessive disorder found in children with breathing abnormalities (periodic hyperpnoea), developmental delay, ataxia and abnormal eye movements. MR may show other midline abnormalities such as corpus callosum agenesis or an ectopic posterior pituitary gland.
Joubert's Syndrome
For Medical Professionals only. joubert's syndrome,, Print this article,(Marie joubert, 20th century, Canadian neurologist). Features
http://www.amershamhealth.com/medcyclopaedia/Volume VII/JOUBERTS SYNDROME.asp

Extractions: *For Medical Professionals only, registration required Joubert's syndrome, (Marie Joubert, 20th century, Canadian neurologist). Features of this syndrome include facial dysmorphism with low-set ears, recurrent apnoea in the neonatal period, developmental delay, ataxia and fits. MR imaging shows partial or complete absence of the cerebellar vermis with or without absence of the corpus callosum, and an enlarged cisterna magnum.
Joubert's Syndrome
joubert's syndrome. This article submitted by Sherri Johnson on 11/9/96. He alsohas agenesis of the corpus callosum. What is joubert's syndrome? Sherri.
http://neuro-www.mgh.harvard.edu/neurowebforum/GeneralFeedbackArticles/JoubertsS
Birth Disorder Information Directory - J
Synostosis) Jorgenson Lenz syndrome. joubert (Boltshauser) syndrome(Cerebelloparenchymal Disorder IV, Cerebellar Vermis Agenesis)
http://www.bdid.com/defectj.htm

Extractions: HOME Jabs Houk Bias Syndrome (Blau Syndrome, Blau Type Arthrocutaneouveal Granulomatosis, Synovitis Granulomatous Uveitis Cranial Neuropathies) Jackson Barr Syndrome (Deafness Conductive Ptosis Skeletal Anomalies) Jackson Weiss Syndrome (Craniosynostosis Midfacial Hypoplasia Foot Abnormalities; Acrocephalosyndactyly, Jackson Weiss Type) Jacobs Syndrome Jacobsen Syndrome (JBS; Deletion/Distal/Monosomy 11q[-] (Syndrome, Partial); Partial Monosomy of Long Arm of Chromosome 11) Jadassohn Lewandowsky Syndrome (Circumscribed Disseminated Keratosis Jadassohn Lewandowsky Type, Pachyonychia Congenita with Natal Teeth [Type I]) Jadassohn Nevus Phakomatosis Jaffe Campanacci Syndrome (Fibromatosis Multiple Non Ossifying) Jaffer Beighton Syndrome (Marfanoid Build Spondylolisthesis Constricted Pelvis) Jagell Holmgren Hofer Syndrome (Ichthyosis Alopecia Eclabion Ectropion Mental Retardation) jagell holmgren hofer syndrome ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION
Jouberts.html
joubert'S syndrome. joubert's syndrome is a rare condition in which themiddle part of the cerebellum (the vermis) doesn't properly form .
http://www.indiana.edu/~pietsch/joubert.html

Extractions: go to Shufflebrain main menu web contact: pietsch@indiana.edu Joubert's syndrome is a rare condition in which the middle part of the cerebellum (the vermis) doesn't properly form . The cerebellum helps regulate dynamic musclular activities such as dancing or playing musical instruments or complex movements of the tongue and vocal muscles. Below are the results of a recent survey of the scientific literature on subject to October 2000. For general information click here. A literature search at Indiana University, Bloomington, Indiana The following MEDLINE items were compiled by SilverPlatter and are presented with their generous co-operation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information Record 1 of 15 in MEDLINE EXPRESS (R) 1999/11-1999/12 TITLE: Joubert's syndrome and prenatal hydrocephalus. AUTHOR(S): Anderson-JS; Gorey-MT; Pasternak-JF; Trommer-BL ADDRESS OF AUTHOR: Northwestern University School of Medicine, and Division of Neuroradiology, Evanston Hospital, Illinois 60201, USA. SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Neurol. 1999 May; 20(5): 403-5
American Roentgen Ray Society
Cerebellar aplasia is the hallmark of joubert's syndrome. Chorioretinalcolobomas are known to be associated with joubert's syndrome.
http://www.arrs.org/edu/caseofweek/pediat/pediat98/cow98_0406/98_0406d.html

Extractions: Cerebellar aplasia, oligophrenia, ataxia, coloboma, hepatic fibrosis Discussion: In 1989 Verloes and Lambotte [1] described three children who were mentally retarded and had hepatic fibrosis, renal abnormalities, colobomas, subtotal aplasia of the cerebellar vermis, ataxia, and other dysmorphic features, including hypertelorism. These cases were similar to cases reported by Hunter et al. [2] and by Thompson and Baraitser [3]. In 1992, two more cases were described by Wiesner et al. [4], and, more recently, Kumar and Rankin described another two cases. The clinical symptoms and signs of the described patients include delayed psychomotor development (oligophrenia), visual difficulty, hepatomegaly, elevated levels of liver enzymes, and cerebellar ataxia. Dysmorphic features may include hypertelorism and ptosis.
Katalog - Wirtualna Polska
Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce.
http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Joube
ASHG 1999 Exhibitor
Francisco, California, October 19 23, 1999. EXHIBITOR. JOUBERTSYNDROME FOUNDATION, 326. 6931 South Carlinda Avenue Columbia, MD
http://www.faseb.org/genetics/ashg/ann-meet/99-exlst/99e-93.htm
Health Library
INTEGRIS Health. Click to go to the INTEGRIS Health home page. Oklahoma'slargest notfor-profit health care organization. SEARCH,
http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/_SearchResults.asp

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