81. 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

82. 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

Diseases Database [Previous page] [Search] [Index] [Feedback] Diseases Database disease, symptom, sign, etc alphabetical index : J J waves Jabs syndrome see Blau syndrome Jaccoud's arthropathy Jackson-Lawler congenital pachyonychia Jackson-Weiss syndrome ... Jacobsen syndrome Jadassohn nevus phakomatosis see Epidermal naevus syndrome Jadassohn-Dösseker disease see Pretibial myxoedema Jadassohn-Lewandowsky syndrome Jaeken syndrome see Carbohydrate deficient glycoprotein syndrome type 1a Jaffe-Campanacci syndrome Jaffe-Lichtenstein syndrome Jakob-Creutzfeldt Disease Jansky-Bielschowsky disease see Ceroid lipofuscinosis neuronal 2 late infantile Janz juvenile myoclonic epilepsy Japanese encephalitis Japanese river fever see Scrub typhus Jarcho-Levin syndrome Jaundice Jaundice of prematurity Jaw muscle spasm see Trismus Jaw protrusion see Prognathia Jaw small see Micrognathia Jaw-winking syndrome JC virus Jellyfish sting ... Jensen syndrome Jerky pulse see Rapid up-stroke pulse Jervell and Lange Nielsen syndrome see Lange Nielsen syndrome Jet lag Jeune's thoracic dystrophy syndrome Jiggers see Tungiasis Job's syndrome see Hyperimmunoglobulin E (IgE) syndrome Jock itch see Tinea cruris Jod-Basedow thyrotoxicosis Johanson-Blizzard syndrome Joint contracture see Contractures Joint effusion see Arthropathy Joint hyperextensibility see Joint hypermobility Joint hypermobility Joint infection (direct) see Septic arthropathy Joint laxity see Joint hypermobility Joint pain or swelling or disorder see Arthropathy Joubert syndrome Joubert-Boltshauser syndrome see Joubert syndrome Jugular paraganglioma

83. 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/

Home Links Foren Texte ... Einzelne Behinderungsbilder : Joubert Syndrome Kategorien: ADS ADD Hyperaktivitaet@ Hier hielt ich die Zusammenfassung der verschiedenen Bezeichnungen in eine Rubrik für sinnvoll... Links: Joubert Syndrome Foundation The Joubert Syndrome Foundation Corp. is an international network of parents who share knowledge, experience, and emotional support. The group offers a networking list, newsletter, and a biannual conference. http://www.joubertfoundation.com/ Link bewerten Übersicht Link eintragen Link ändern ... Suche Suche im ganzen Linkportal nur in dieser Kategorie Weitere Suchoptionen Home Links Foren ... nach oben

84. 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

85. 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

[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

86. 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

Home List categories Eponyms A-Z Biographies by country ... Contact Joubert's syndrome Also known as: Joubert-Boltshauser syndrome Synonyms: Synonym: familial cerebellar vermis agenesis. Associated persons: Eugen Boltshauser Marie Joubert Description: 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. In 1969 Marie Joubert et al described 4 siblings of consanguineous parents. Her first patient was a boy who was admitted to the Montreal Children's Hospital when he was six months old. This patient is still alive (2002). The name Joubert’s syndrome was suggested by Eugen Boltshauser and Werner Isler in 1977. Bibliography: A.De Haene:

87. Database Search Results Database Search Results. Searched keywords for joubert's syndrome. http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Joubert's Syndrome

88. Joubert (Syndrome De -) joubert (syndrome de -) joubert (syndrome de -). Des chercheurs http://www.frm.org/informez/info_ressources_maladies_fiche.php?id=45

89. 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

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *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. GS The Encyclopaedia of Medical Imaging Volume VI:1 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile.

90. 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

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *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. HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe?

91. 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

Joubert's Syndrome This article submitted by Sherri Johnson on 11/9/96. Author's Email: ranson@dal.cleaf.com My son was born with a 40.5 cm head circumference. He also has a large anterior fontanel and wide metopic suture. There is no evidence of hydrocephalus. He also has agenesis of the corpus callosum. What is Joubert's syndrome? Sherri Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article! If you would like to post a Response to this article, fill out this form completely... Do not use slashes ("/") or colons (":") or other "special" characters in your Article title! Also, please be sure to make your Response Title something descriptive...NOT the same title as the original article.. Response Title: Author: Author Email: Response Text: Original Article: (Don't change this field!) Forum: (Don't change this field either!) Article complete. Click

92. Birth Disorder Information Directory - J Synostosis) Jorgenson Lenz syndrome. joubert (Boltshauser) syndrome(Cerebelloparenchymal Disorder IV, Cerebellar Vermis Agenesis) http://www.bdid.com/defectj.htm

HOME J Jabs Houk Bias Syndrome (Blau Syndrome, Blau Type Arthrocutaneouveal Granulomatosis, Synovitis Granulomatous Uveitis Cranial Neuropathies) jabs houk bias syndrome SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES Jackson Barr Syndrome (Deafness Conductive Ptosis Skeletal Anomalies) jackson barr syndrome DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES Jackson Weiss Syndrome (Craniosynostosis Midfacial Hypoplasia Foot Abnormalities; Acrocephalosyndactyly, Jackson Weiss Type) List of Sites Jacobs Syndrome jacobs syndrome Jacobsen Syndrome (JBS; Deletion/Distal/Monosomy 11q[-] (Syndrome, Partial); Partial Monosomy of Long Arm of Chromosome 11) European chromosome 11q network What is Jacobsen (or "11q Deletion") Syndrome? Jacobsen Syndrome (JBS) Jadassohn Lewandowsky Syndrome (Circumscribed Disseminated Keratosis Jadassohn Lewandowsky Type, Pachyonychia Congenita with Natal Teeth [Type I]) jadassohn lewandowsky syndrome PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE Jadassohn Nevus Phakomatosis See Nevus Sebaceus of Jadassohn Jaffe Campanacci Syndrome (Fibromatosis Multiple Non Ossifying) jaffe campanacci syndrome JAFFE-CAMPANACCI Jaffer Beighton Syndrome (Marfanoid Build Spondylolisthesis Constricted Pelvis) jaffer beighton syndrome Jagell Holmgren Hofer Syndrome (Ichthyosis Alopecia Eclabion Ectropion Mental Retardation) jagell holmgren hofer syndrome ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION

93. 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

go to Shufflebrain main menu JOUBERT'S SYNDROME 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

94. 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

document.write(""+dayarray[day]+", "+montharray[month]+" "+date+", "+year+"") American Roentgen Ray Society Case of the Week - Discussion April 6, 1998 Menashe Barzilai, Nathan Ish-Shalom, Aaron Lerner, Theodor Iancu Carmel Medical Center and Israel Institute of Technology, Haifa Israel The Answer is: COACH Syndrome 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.

95. 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

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Conditions and Diseases > Genetic Disorders Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

96. 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

97. 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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