41. Database Search Results Searched keywords for Joubert s Syndrome. joubert syndrome Foundation RelatedCerebellar Disorders National Institute of Neurological Disorders and http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Joubert's Syndrome

42. Joubert Syndrome Articles, Support Groups, And Resources joubert syndrome articles, support groups, and resources for patients from MedHelp International (www.medhelp.org) http://www.medhelp.org/HealthTopics/Joubert_Syndrome.html

[Health Topics A-Z] A B C D ... Z Joubert Syndrome Ask The Doctor Forums Joubert Syndrome (Neurology and Neurosurgery Forum) Support Groups: Med Help International Search Medical Forums / Message Boards Site Map Revised: 9/7/2005

43. Joubert Syndrome The Neurology and Neurosurgery Forum ask the doctor medical forum for patientshosted by Med Help Intl. http://www.medhelp.org/forums/neuro/archive/1626.html

Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Joubert Syndrome Forum: The Neurology and Neurosurgery Forum Topic Area: Posted by Cathy on September 16, 1997 at 17:37:14: My two year old son has had several neurological problems since birth, with no diagnosis. In March of 97 he had an MRI done. The Impression was, Moderate enlargement of Lateral Ventricles, suggestion of reduced cerebral white matter. Cerebellar Malformation, with hypoplasia of the interior cerebellar vermis and relative enlargement of the cerebellar hemispheres. It appears to be an incomplete Joubert Syndrome. Please help me understand this My son is very smart. He does not talk or walk, but understands what we say. Is it possible to have a mild case of Joubert Syndrome? If so, what does this say for his furture? Any help or info will be greatly appreciated. Thanks, Cathy Neurology Forum Neurology Archives Med Help International If you would like to make an appointment at the Cleveland Clinic, please call 1-800-CCF-CARE or inquire online by using the Neurology Dept.

44. Joubert Syndrome Information Diseases Database joubert syndrome,JoubertBoltshauser syndrome,Cerebelloparenchymal disorder type4,CPD IV,Familial aplasia of vermis, Disease Database Information. http://www.diseasesdatabase.com/ddb30688.htm

Diseases Database Index Sponsors Contact ... Previous Page Joubert syndrome information Search 5 synonyms or equivalents were found. Joubert syndrome aka/or Joubert-Boltshauser syndrome aka/or Cerebelloparenchymal disorder type 4 aka/or CPD IV aka/or Familial aplasia of vermis may cause or feature (Follow link for list.) may be associated with (Follow link for list.) belong(s) to the category of (Follow link for list.) Joubert syndrome: Definition(s) via UMLS Code translations and terms via UMLS Joubert syndrome: specific web sites Send Joubert syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 09:32:55 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

45. Hill Health Topics A-Z - Joubert Syndrome joubert syndrome. National Organization for Rare Disorders. Important It ispossible that the main title of the report joubert syndrome is not the name you http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord20&SEC

46. Joubert Syndrome -- Facts, Info, And Encyclopedia Article joubert syndrome is a rare (A disease or disorder that is inherited genetically)genetic Treatment for joubert syndrome is symptomatic and supportive. http://www.absoluteastronomy.com/encyclopedia/j/jo/joubert_syndrome.htm

Joubert syndrome [Categories: Genetic disorders, Neurology, Eponymous diseases, Childhood psychiatric disorders] Joubert syndrome is a rare (A disease or disorder that is inherited genetically) genetic disorder that affects the area of the (That part of the central nervous system that includes all the higher nervous centers; enclosed within the skull; continuous with the spinal cord) brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the (Click link for more info and facts about cerebellar vermis) cerebellar vermis and a malformed (The part of the brain continuous with the spinal cord and comprising the medulla oblongata and pons and midbrain and parts of the hypothalamus) brain stem . The most common features include (Inability to coordinate voluntary muscle movements; unsteady movements and staggering gait) ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and ((of muscular tissue) the state of being hypotonic) hypotonia . Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and

47. Joubert Syndrome - Healthfinder® A general overview of joubert syndrome that includes a description of the disorder,and treatment, prognosis and research information. http://mentalhealth.about.com/library/h/docs/bld02267.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a14' About Mental Health Resources Mental Health Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Mental Health Resources newsletter! See Online Courses Search Mental Health Resources Joubert Syndrome internet URL http://www.ninds.nih.gov/health_and_medical/disorders/joubert.htm sponsoring agency National Institute of Neurological Disorders and Stroke, National Institutes of Health description A general overview of Joubert syndrome that includes a description of the disorder, and treatment, prognosis and research information. Suggested reading for more in-depth information and a list of referrals where users may obtain additional information and resources about Joubert syndrome are provided also. Keywords: Birth Defect Consumer Resources Joubert's Syndrome Rare Diseases From Leonard Holmes, Ph.D. Your Guide to Mental Health Resources FREE Newsletter.

48. Joubert Syndrome Foundation, Inc - Healthfinder® The joubert syndrome Foundation, Inc. was founded to share knowledge, experiencesand emotional support with those affected by joubert syndrome. http://mentalhealth.about.com/library/h/orgs/bl2531.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a14' About Mental Health Resources Mental Health Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Mental Health Resources newsletter! See Online Courses Search Mental Health Resources Joubert Syndrome Foundation, Inc organization URL(s) joubertfoundation.com/ email: joubertfoundation@joubertfoundation.com other contact information 12348 Summer Meadow Road Rock, MI 49880 906-359-4707 (Voice, ) 906-359-4205 (FAX) description The Joubert Syndrome Foundation, Inc. was founded to share knowledge, experiences and emotional support with those affected by Joubert Syndrome. Joubert Syndrome is the agenesis of the cerebellar vermis characterized clinically by attacks of tachypnea or prolonged apnea, abnormal eye movements, ataxia and mental retardation. The Foundation also offers opportunities to participate in research. online resources FAQ - About Joubert Syndrome http://joubertfoundation.com/JoubertFAQ's.htm

49. Discovery Of The Gene For A Form Of Joubert Syndrome ? Researchers at the University of California, San Diego (UCSD) School of Medicinehave discovered the gene for a form of joubert syndrome, http://www.news-medical.net/?id=5740

50. Joubert Syndrome - Information & News Researchers at the University of California, San Diego (UCSD) School of Medicinehave discovered the gene for a form of joubert syndrome, http://www.news-medical.net/?keyword=Joubert syndrome

51. Joubert Syndrome - Enpsychlopedia joubert syndrome is a rare genetic disorder that affects the area of the brain that Treatment for joubert syndrome is symptomatic and supportive. http://psychcentral.com/psypsych/Joubert_syndrome

home resource directory disorders quizzes ... support forums Joubert syndrome Joubert syndrome is a rare genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem . The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea , sleep apnea, abnormal eye and tongue movements, and hypotonia . Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation. Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored. The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation. Two genes that are mutated in individuals with Joubert syndrome have been identified. Mutation in gene of unknown function called

52. Analysis Of Joubert Syndrome-1 The number indicates the strength of association to joubert syndrome1. The pointsto the related MeSH-D terms. Follow the green arrows to navigate MeSH-C http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U50955

53. Joubert Syndrome And The Bumbo Baby Seat The Bumbo Baby Seat helps children with joubert syndrome by enabling them to situp on their own without uncomfortable belts and straps. http://www.bumbobabyseat.com/testimonials-joubert-syndrome.html

Bumbo Baby Seat Testimonials About Children with Joubert Syndrome We at Wartburg Enterprises believe in products that help children and their families. The Bumbo Baby Seat is an excellent example of a such a product. Please read the Bumbo Stories below. They are testimonials received from customers telling us how the Bumbo has improved their children's lives. There are other stories too for children with medical issues and special needs. Please click the appropriate link to learn more about these children and their Bumbos. Testimonials Testimonials About Special Needs Children Testimonials About Gastro Esophageal Reflux Bumbo Stories About Children with Joubert Syndrome I just want you guys to know that I LOVE THE BUMBO SEAT!!!!! My daughter has Joubert Syndrome which affects her balance and coordination. She is 14 months old and she still is not sitting independently. The Bumbo Seat has allowed her to sit independent and to feel like she is a "Big Girl" instead of a little baby. If you ever need a spokesperson just let me know!!!!

54. HUM-MOLGEN: UCSD Researchers Identify Chromosome Location For 2nd Form Of Jouber The type of joubert syndrome now traced to chromosome 11 also includes eye or The research on joubert syndrome in the Gleeson Lab at UCSD is performed http://hum-molgen.org/NewsGen/09-2003/msg15.html

home genetic news bioinformatics biotechnology ... register for news alert UCSD Researchers Identify Chromosome Location for 2nd Form of Joubert Syndrome September, 12 2003 15:32 Physicians may be a step closer to pre-natal diagnosis of a rare genetic disorder called Joubert syndrome. This condition, present before birth, affects an area of the brain controlling balance and coordination. New findings from the University of California, San Diego (UCSD) School of Medicine have identified chromosome 11 as a second site for a gene or genes that cause Joubert syndrome, a disorder that affects about 1 in 30,000 individuals. Prior to this study, chromosome 9 had been the only known site with gene mutations causing the disorder. The new study, published online in the September issue of the American Journal of Human Genetics, focused on three Middle Eastern families whose relatives had inter-married and passed the genetic defect to several family members. Characterized by absence or underdevelopment of a brain region called the cerebellar vermis, and by a malformed brain stem, Joubert syndrome affects individuals to varying degrees across the spectrum of motor and mental development. Its most common features include lack of muscle control and decreased muscle tone; an abnormal breathing pattern called hypernea, in which babies pant; abnormal eye and tongue movements; and mild or moderate retardation. The type of Joubert syndrome now traced to chromosome 11 also includes eye or kidney problems, in addition to the classical symptoms associated with the disorder.

55. Development Of Hydrocephalus In A Patient With Joubert Syndrome Genel Ferah, Atl J Postgrad Med, Online version this peerreviewed periodical, a publication ofthe Staff Society of Seth GS Medical College and KEM Hospital, India, http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2004;volume=50;issue=2

56. Development Of Hydrocephalus In A Patient With Joubert Syndrome,Genel Ferah, Atl Indexed peerreviewed biomedical periodical of Staff Society of Seth GS MedicalCollege and KEM Hospital, India, with free access to full-text since 1990. http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2004;volume=50;issue=2

57. OMIM - JOUBERT SYNDROME 1; JBTS1 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=213300

58. Entrez PubMed BACKGROUND The features of joubert syndrome include hypotonia, ataxia, It has been postulated that some joubert syndrome patients might have an http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

59. NORD - National Organization For Rare Disorders, Inc. joubert syndrome is a very rare neurological disorder involving a malformationof the area joubert syndrome Foundation and Related Cerebellar Disorders http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Joubert Syndr

60. Joubert Syndrome Joubert s syndrome, Cerebellooculo-renal syndromes (CORs). Printable version joubert syndrome (JS) is an autosomal recessive developmental brain http://www.humpath.com/article.php3?id_article=853

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