81. 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

[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] Abstracts [Back to top] Gene Mining and Functional Genomics in Human Osteoarthritis M.G. Attur, M.N. Dave, and A.R. Amin

82. 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

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

83. 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

84. 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

85. 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

This page has moved to: http://www.perinatology.com/ultrasound/cns.htm

86. 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

This page has moved to: http://www.perinatology.com/ultrasound/cns.htm

87. 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

Joubert syndrome Cerebelloparenchymal Disorder IV, CPD IV, Cerebellar Vermis Agenesis, Joubert-Boltshauser Syndrome Joubert Syndrome Foundation, Inc. includes Joubert Syndrome Parents-In-Touch 6931 South Carlinda Ave Columbia, MD 21046 Phone: 410.997.8084 Fax: 410.992.9184 E-mail: joubertfoundation@joubertfoundation.com Web site: www.joubertfoundation.com/ Joubert Syndrome FAQ Also See: National organizations information on genetic conditions or birth defects Joubert Syndrome Information Page , National Institute of Neurological Disorders and Stroke (NINDS) Joubert Syndrome , Online Mendelian Inheritance in Man (OMIM) *213300 To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised July 16, 2002 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites)

88. 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

Search: Web Sites Dictionary - Define Dictionary - Sounds Like Dictionary - Relations Dictionary - Rhymes Dictionary - Translate Sponsors Web Directory C Web Directory Health Conditions and Diseases Sub Directories Campylobacter Pylori Canavan Disease Cancer Candida ... Submit Site All other brands are property of their respective owners. Directory Dictionary AIM Smileys Contact Us

89. Privattandvård I Örebro, Tandläkaren Michel Deaibes, Sjukdomslista På Engels Cat Scratch Disease. Celiac Disease. Central Pontine Myelinolysis. cerebellar VermisAgenesis. Cerebral Gigantism. Cerebral Palsy. Cerebrocostomandibular Syndrome. http://www26.brinkster.com/privtand/sjuk.htm

A Aarskog Syndrome Aase Syndrome Abetalipoproteinemia Ablepharon-Macrostomia Syndrome Achilles Tendonitis Achondroplasia Acoustic Neuroma Acromegaly Activated Protein C Resistance Acute Idiopathic Polyneuritis ADD and ADHD Addiction and Recovery Addison's Disease Adiposis Dolorosa Adjustment Disorders Adrenoleukodystrophy Agnosia Agoraphobia Aicardi Syndrome AIDS Alagille Syndrome Albinism Alcoholism Alexander Disease Alkaptonuria Allergies Alopecia Alpers' Disease Alpha1 Antitrypsin Deficiency Alport Syndrome Alstrom Syndrome Alternating Hemiplegia Altophobia Alzheimer's Amblyopia Amputee Amyloidosis Amyoplasia Congenita Amyotrophic Lateral Sclerosis Anal Fissures Anemia Anencephaly Aneurysm Angina Pectoris Anophthalmos Anorexia Anosmia Anterior Knee Pain Syndrome Antiphospholipid Syndrome Anxiety Aortic Valve Disease Apert Syndrome Aphasia Aplastic Anemia Apnea, Sleep Appendicitis Arrhythmia Arteriohepatic Dysplasia Arthritis Arthrogryposis Asbestosis Asperger's Syndrome Aspergillosis Asthma Atherosclerosis Athlete's Foot Atrial Fibrillation Attachment Disorder Attention Deficit Disorder Autism Auto Immune Disorders Aviophobia Aviatophobia B Bacillary Angiomatosis Back Disorders Bad Breath Balanitis Baldness Barth Syndrome Bassen Kornzweig Syndrome Batten Disease Beckwith-Wiedemann Syndrome Behcet's Syndrome Bell's Palsy Benign Breast Lumps Benign Prostatic Hyperplasia Berger's Disease Beriberi Beryllium Disease Besnier Boeck Disease Betalipoprotein Deficiency Disease

90. MICROCEPHALY - MICROCEPHALIC - WORLDWIDE DISABILITIES ON-LINE - DISABILITY DICTI INVESTIGATIONS 1. Imaging Studies 1. CT/MRI for structural anomalies cerebral/cerebellaratrophy, hydrocephaly, calcification, craniosynostosis. http://www.geocities.com/dol911/micro.html

WWW.DOL911.COM DISABILITY DICTIONARY MICROCEPHALY SAMPLE A* (printable for public) Index: What is Microcephaly? What is the Doctor looking for? Is there any treatment? What is the prognosis? ... Support Groups DESCRIPTION DEFINITION: A congenital anomaly of the central nervous system (CNS) where the head circumference is > 3 standard deviations below the mean for age and sex. Diagnisis EPIDEMIOLOGY: incidence: common age of onset: birth (genetic) or first 2 years of life (nongenetic) risk factors: see differential diagnosis - two main groups: primary (genetic) vs secondary (nongenetic) DIFFERENTIAL DIAGNOSIS: 1. Primary (Genetic) 1. Autosomal Recessive (Familial) 2. Autosomal Dominant 3. Syndromes Aicardi Syndrome Beckwith-Wiedemann Syndrome Bloom Syndrome Cohen Syndrome Cornelia de Lange ... Rubinstein-Taybi Syndrome Smith-Lemli-Opitz Syndrome Trisomy 21 Trisomy 18 Trisomy 13 Xeroderma Pigmentosum DIFFERENTIAL DIAGNOSIS: 2. Secondary (Nongenetic) 1. Congenital CNS Anomalies Agenesis of the Cerebellar Vermis Agenesis of the Corpus Callosum Craniosynostosis Encephalocele ... Schizencephaly 2. Congenital Infections CMV Rubella Toxoplasmosis Varicella 3. Drugs

91. Directory :: Look.com Look.com The Search Engine of Search Engines, Enterprise Search Look Search, http://www.look.com/searchroute/directorysearch.asp?p=43345

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