Current Genomics, Vol. 4, No. 2, 2003 Joubert syndrome (JS) is a rare autosomal recessive syndrome characterised byagenesis or dysgenesis of the cerebellar vermis with accompanying brainstem 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
V: Pediatric Neuropathology This is a complex malformation with varying manifestations, ranging from simple agenesisof the elongation and herniation of the cerebellar vermis through the http://www.borg.labmed.umn.edu/PathClass/5102/neuro/clark5.html
Extractions: Back Home Next V. PEDIATRIC NEUROPATHOLOGY DEVELOPMENTAL ABNORMALITIES Review Of Normal Stages Of CNS Development Organ induction (2.5 - 6 wk gestation) - Formation of neural plate, neural folds, and neural tube (by day 24). Closure of the rostral and caudal neuropores of the neural tube. Segmentation and cavitation of the rostral end of the tube to form the forebrain, midbrain, and hindbrain divisions. Pathology : anencephaly, spinal dysraphism, encephalocele, holoprosencephaly Germinal precursor cell proliferation, migration, and differentiation (2 mo gestation - 6 mo postnatal) - Formation of neurons and glia. Development of cerebral and cerebellar convolutions. Pathology: lissencephaly, microcephaly vera (micrencephaly), polymicrogyria, agenesis of the corpus callosum Myelination (2 mo gestation - 3rd postnatal decade) - Insulation of individual axon fiber tracts. Pathology : some forms of leukodystrophy Synaptogenesis (20 - 24 wk gestation through adulthood) - EEG maturation (continuous pattern with sleep-wake and sleep differentiation by 34 wk). Dendritic spine proliferation. Pathology: trisomy 21, fragile X syndrome, probably many other syndromes with mental retardation
Service Page - Pathologie Information DISEASE JoubertBoltshauser syndrome, Synonym(s) cerebellar vermisagenesis, CIM Q04.3, Joubert syndrome is an autosomal-recessive http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=475
NORD - National Organization For Rare Disorders, Inc. Copyright 1986, 1988, 1990, 1992, 1997, 1999 Synonyms of Joubert Syndrome CerebellarVermis agenesis, Hypernea, EpisodicEye Moves-Ataxia-Retardation; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Joubert Syndr
Targeted Ultrasound (LEVEL II) Differential diagnosis Joubert syndrome SOURCEOMIM agenesis of the cerebellarvermis, abnormal eye movenment, ataxia, mental reatardation, early death. http://192.215.104.222/obgyn/PUBLIC/ULTRASOU/US4.htm
Targeted Ultrasound (LEVEL II) Differential diagnosis Joubert syndrome SOURCEOMIM agenesis of the cerebellarvermis, abnormal eye movenment, ataxia, mental retardation, early death. http://192.215.104.222/obgyn/PUBLIC/ULTRASOU/us4.htm
Joubert Syndrome Joubert syndrome. Cerebelloparenchymal Disorder IV, CPD IV, cerebellar VermisAgenesis, JoubertBoltshauser Syndrome Joubert Syndrome Foundation, Inc. http://www.kumc.edu/gec/support/joubert.html
AnsMe Directory - Health > Conditions And Diseases > C Celiac Disease. Central Pontine Myelinolysis. cerebellar Diseases. cerebellar VermisAgenesis. Cerebral Abscess. Cerebral Edema. Cerebral Gigantism. Cerebral Palsy. http://dir.ansme.com/health/43345.html
