61. The 11-14-week Scan - Chapter 2.23 joubert syndrome. This is a rare, lethal, autosomal recessive condition characterizedby partial or complete absence of the cerebellar vermis. http://www.fetalmedicine.com/11-14scanbook/Chapter2/chap02-23.htm

The 11-14-week scan KH Nicolaides, NJ Sebire, RJM Snijders JOUBERT SYNDROME This is a rare, lethal, autosomal recessive condition characterized by partial or complete absence of the cerebellar vermis. It is associated with profound mental retardation and developmental delay. Death usually occurs in the first 5 years of life. In the studies on chromosomally normal fetuses with increased nuchal translucency ( Table 1 and Table 2 ), the prevalence of Joubert syndrome (two in 4626) was higher than that expected in the general population Return to Contents Page Next..

62. Log In Problems joubert syndrome is a rare disorder characterized by hyperpnea, a subtle facialappearance, and associated eye abnormalities that are seen in the newborn http://www.medscape.com/viewarticle/462135

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63. NPHP1 Gene Deletion Is A Rare Cause Of Joubert Syndrome Related Disorders -- Cas Abbreviations JS, joubert syndrome; JSRD, joubert syndrome related disorders; joubert syndrome (JS) is an autosomal recessive disorder presenting with http://jmg.bmjjournals.com/cgi/content/extract/42/2/e9

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Castori, M Related Collections Genetics Journal of Medical Genetics ELECTRONIC LETTER NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders M Castori E M Valente M A Donati S Salvi E Fazzi E Procopio T Galluccio F Emma B Dallapiccola and E Bertini , the Italian MTS Study Group IRCCS C.S.S., Mendel Institute, Rome, Italy Department of Child Neurology and Psychiatry, IRCCS "C. Mondino Foundation", University of Pavia, Pavia, Italy Correspondence to: Dr Enrico Bertini Revised version received 25 October 2004 Accepted for publication 31 October 2004 Abbreviations: JS, Joubert syndrome; JSRD, Joubert syndrome related disorders; MRI, magnetic resonance imaging; MTS, molar tooth sign; NPH, nephronophthisis

64. J Med Genet -- Sign In Page Keywords gene deletion; joubert syndrome; molar tooth sign; nephronophthisis; joubert syndrome (JS) is an autosomal recessive disorder presenting with http://jmg.bmjjournals.com/cgi/content/full/42/2/e9

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH Author Keyword(s) Vol Page [Advanced] Access to this article requires a subscription or payment. Full Text NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders Castori et al. J Med Genet. To view this item, select one of the options below: Login via Athens Login for existing subscribers User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgotten your user name or password? Subscribe Buy the article Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$12.00 SitePass - You may access all content in Journal of Medical Genetics Online (from the computer you are currently using) for 30 days for US$30.00. Regain access to an already purchased article if the access period has not yet expired. This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Castori, M

65. UCSD Researchers Identify Chromosome Location For 2nd Form Of Joubert Syndrome The type of joubert syndrome now traced to chromosome 11 also includes eye or kidney joubert syndrome is inherited in an autosomal recessive manner, http://www.scienceblog.com/community/older/2003/A/20036286.html

September 2003 From University of California - San Diego UCSD researchers identify chromosome location for 2nd form of Joubert syndrome 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.

66. GeneReviews: Joubert Syndrome Your browser does not support HTML frames so you must view joubert syndrome ina slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/query?dz=joubert

67. Medical Image Database, Radiology Teaching Files And Cases, MedPix™: Single joubert syndrome is characterized by episodic hyperpnea and apnea, We studied15 patients with the diagnosis of joubert syndrome to (1) more fully http://rad.usuhs.mil/medpix/radpix.html?mode=single&comebackto=mode=geo_browse&r

68. Joubert Syndrome joubert syndrome (Cerebellar Vermis Agenesis, Hypernea, EpisodicEye Moves-Ataxia-Retardation Appendix C. Future Research Directions in joubert syndrome http://www.icongrouponline.com/health/Joubert_Syndrome.html

ICON Health Publications Official Health Sourcebooks Search ICON Health Titles: The Official Parent's Sourcebook on JOUBERT SYNDROME (Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation; Cerebellar Vermis Aplasia; Cerebellarparenchymal Disorder IV; Cerebelloparenchymal Disorder IV Familial; Chorireninal Coloboma-Joubert Syndrome; Hyperpnea, Episodic-Abnormal Eye Movement; Joubert-Bolthauser Syndrome; Kidneys, Cystic-Retinal Aplasia Joubert Syndrome; Polydactyly-Joubert Syndrome; Retinal Aplastic-Cystic Kidneys-Joubert Syndrome; Vermis Aplasia; Vermis Cerebellar Agenesis) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on . Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation; Cerebellar Vermis Aplasia; Cerebellarparenchymal Disorder IV; Cerebelloparenchymal Disorder IV Familial; Chorireninal Coloboma-Joubert Syndrome; Hyperpnea, Episodic-Abnormal Eye Movement; Joubert-Bolthauser Syndrome; Kidneys, Cystic-Retinal Aplasia Joubert Syndrome; Polydactyly-Joubert Syndrome; Retinal Aplastic-Cystic Kidneys-Joubert Syndrome; Vermis Aplasia; Vermis Cerebellar Agenesis Description Table of Contents Introduction Overview Organization

69. Joubert Syndrome Molar tooth malformation in a 16month-old patient with joubert syndrome joubert syndrome joubert syndrome American Journal of Neuroradiology http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=166

70. Joubert Syndrome Project Bits And Bytes (I) General information on the joubert syndrome Program Naturally, I beganto look around for information on joubert syndrome, so that I would be http://www.ruancrouse.org/js.htm

JOUBERT SYNDROME PROGRAM – by Emile du Toit (I) General information on the Joubert Syndrome Program The Autistic Child Project began in 1999, when it was decided to set up a behavioural program involving 3 rd year and honours psychology students, to instruct a child who is suffering from Pervasive Developmental Disorder, Autistic Spectrum. Nigel Hartman (a 2 nd year MCLIN student) and Andre Brink (1 st year MCLIN) coordinated approximately 6 volunteers who were instructing the child. The program is based on behavioural principles that had been constructed into a formal program for autistic children by Dr. Ivar Lovaas. I became a co-coordinator in 2000, through the Rhodes Psychology Clinic, as I was beginning a Masters degree there in Clinical Psychology. We have moved from 6 instructors in 1999 to 10 in 2000, to a total of 15 individual autism instructors, 4 peer socialization instructors, and 8 Joubert Syndrome Instructors this year. My discovery of Joubert Syndrome When first I heard that there was a child suffering from Joubert Syndrome, I was able to utilize my ‘vast array of knowledge’ to reach an emphatic conclusion that I had never heard of it in my life before. We had been looking around for any autistic children in the surrounding area, as we felt that we had sufficient volunteers as well as a growing wealth of expertise to take on another child. It had soon become apparent that we were, in fact, treating the entire autistic population of the thriving metropolis of Grahamstown. However, the networking I had done revealed that there was this child, who might have a similar type of disorder. I was put in touch with Ronel Crouse, Ruan’s mom, and arranged a meeting with her and her husband Marius to see if we were actually in a position to help.

71. Joubert Syndrome - St. Joseph Mercy, Ann Arbor Michigan joubert syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor,SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/14228.cfm

@import url(default.css); Online Health Information Health Information - Support Groups Back to Health Library Print This Page Email to a Friend Self Help Clearinghouse Joubert Syndrome Joubert Syndrome Foundation This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Joubert Syndrome Foundation International network. 7 chapters. Founded 1992. Sharing of knowledge, experience and emotional support for parents of children with Joubert syndrome and related cerebellar disorders. Aims to educate physicians and support team. Group offers a newsletter and a biennial conference. WRITE: Joubert Syndrome Fdn. 6931 South Carlinda Ave. Columbia, MD 21046 CALL: 410-997-8084 E-MAIL: joubertdupuette@comcast.net WEBSITE: www.joubertfoundation.com VERIFIED: 10/18/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information.

72. Arch Ophthalmol -- Abstract: Joubert Syndrome, May 1989, Lambert Et Al. 107 (5): joubert syndrome. SR Lambert, A. Kriss, M. Gresty, S. Benton and D. Taylor Departmentof Ophthalmology, Hospital for Sick Children, London, England. http://archopht.ama-assn.org/cgi/content/abstract/107/5/709

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 107 No. 5, May 1989 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Lambert SR Taylor D Articles that cite this article Contact me when this article is cited Joubert syndrome S. R. Lambert, A. Kriss, M. Gresty, S. Benton and D. Taylor Department of Ophthalmology, Hospital for Sick Children, London, England. Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We report

73. The Bioline EPrints Archive - Joubert Syndrome: Accuracy Of Neuro-radiological F joubert syndrome accuracy of neuroradiological findings Keywords,joubert syndrome, molar tooth sign, vermian hypoplasia, pn04007 http://bioline.utsc.utoronto.ca/archive/00000726/

@import url(http://bioline.utsc.utoronto.ca/eprints.css); @import url(http://bioline.utsc.utoronto.ca/eprints.css); @import url(http://bioline.utsc.utoronto.ca/print.css); The Bioline EPrints Archive Home About Browse Search ... Help Joubert syndrome: accuracy of neuro-radiological findings Lingawi, Sattam S. and Arab, Nahla A. and Fahmy, Yasser Ragab Joubert syndrome: accuracy of neuro-radiological findings Journal of Pediatric Neurology pp. 33-37 Full text available as: PDF - Requires Adobe Acrobat Reader or other PDF viewer. Abstract Item Type: Journal (Paginated) Keywords: Joubert syndrome, molar tooth sign, vermian hypoplasia, pn04007 Subjects: Medicine Neurology Medicine Pediatrics ID Code: Deposited By: Jairam, Jennifer Deposited On: 18 February 2004 Alternative Locations: http://www.bioline.org.br/request?pn04007 http://jpn.webiks.net/msword/v2n1/Joubert%20syndrome%20html.doc Repository Contact Information © 2005 Bioline International

74. Disabilityexchange.org - Taxonomy joubert syndrome. print Print this Page. What is joubert syndrome? joubert syndromeis a rare, genetic disorder that affects the area of the brain that http://www.disabilityexchange.org/taxonomy/index.php?fid=3&path=3_288

75. SimulConsult Cases Blog: Joubert Syndrome Cases Blog joubert syndrome. 2001 Baylor College of Medicine Department of Even without any laboratory testing, joubert syndrome is the leader among http://simulconsult.com/neurologicalsyndromes/reports/baylor59.html

Cases Blog: Joubert Syndrome 2001 Baylor College of Medicine Department of Neurology Case #59 ( History and Physical and Differential Diagnosis This 6 week old boy experienced intermittent severe tachypnea and episodic central apnea since birth. On examination, he exhibited axial hypotonia and intermittently disconjugate eye movements , but no evidence of facial, cranial, or limb dysmorphism. Click hyperlinked findings in the description above to see differential diagnoses for the individual finding using SimulConsult Neurological Syndromes. Click here to see the result in the software with all the findings combined together. Even without any laboratory testing, Joubert Syndrome is the leader among the diagnoses. However, the other diagnoses are still ranked as serious possibilities, probably due in part to the onset age of Joubert Syndrome findings not being filled out in great detail. Individual registration (free) or institutional access (free) is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students. If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please

76. Society For Neuroscience | Public Resources Add a Link Browse. Resource Links. Subcategory joubert syndrome. joubert syndromeFoundation joubert syndrome Information Page Back http://apu.sfn.org/Template.cfm?Section=PublicResources&Template=/PublicResource

77. Ocular Motor Apraxia: Re:Joubert Syndrome rejoubert syndrome. From tejoon, email tjung@tklp.com Date 08 Dec 2000 at1930 Replying to message 803.html. We have a 2-year-old daughter who has http://wwweb.org/oma/messages/805.html

OMA Message Board message Ref: http://wwweb.org/oma/messages/805.html Look at replies to this message Reply to this message Return to OMA Message Board Index Page ... Help file re:Joubert syndrome From: tejoon, e-mail: tjung@tklp.com Date: 08 Dec 2000 at 19:30 Replying to: message 803.html We have a 2-year-old daughter who has oma associated with Joubert syndrome. Her neuro opthamologist recommended a MRI, which showed a malformation of the cerebellum typical of Joubert syndrome. My daughter's motor skills are within normal range; she walks, runs but can't jump yet. Her balance is not that great. According to her geneticist who is somewhat familiar with Joubert syndrome, she has very mild manifestation typically associated with Joubert syndrome. http://www.joubertfoundation.com/ should be able to provide you with little more information on this syndrome. If you have any questions, feel free to e-mail me. Replies to this message: Reply to this message: This Web page is part of the OMA Message Board at the Ocular Motor Apraxia Web Site: http://www.wwweb.org/oma/

78. Future Research Directions In Joubert Syndrome: National Institute Of Neurologic Report on a meeting on Future Research Directions in joubert syndrome, held June27 28, 2002. http://accessible.ninds.nih.gov/news_and_events/proceedings/Joubert_Syndrome_200

News and Events - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders Funding ... Jobs and Training You are here: Home News and Events Proceedings News and Events section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. News Press Releases News Articles Funding News Events Calendar of Events Proceedings - you are in this section Online Events Congressional Testimony NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Content for this page Future Research Directions in Joubert Syndrome Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) I. Overview and Introduction II. Clinical Approaches to Diagnosis and Management III. Genetics of Brain Development and Behavior IV. Autism and Joubert Syndrome ... Participant List Future Research Directions in Joubert Syndrome June 27 - 28, 2002

79. RedNova News - Health - Joubert Syndrome: Long-Term Follow-Up Twentynine patients (16 males, 13 females) with joubert syndrome were identifiedfrom ophthalmology, neurology, and genetic databases covering a 15-year http://www.rednova.com/news/health/98876/joubert_syndrome_longterm_followup/

ANDP("ntn"); Ads_kid=0;Ads_bid=0;Ads_xl=0;Ads_yl=0;Ads_xp='';Ads_yp='';Ads_xp1='';Ads_yp1='';Ads_opt=0;Ads_wrd='[KeyWord]';Ads_prf='';Ads_par='';Ads_cnturl='';Ads_sec=0;Ads_channels=''; Home News Video Images ... Site Map SPECIAL NEWS Return to Flight REDNOVA NEWS Space Science Technology Health ... Video News REDNOVA EXTRAS RedNova E-Mail My RedNova Join RedNova RSS Feeds ... Tell A Friend, Win $500 Ads by Google Posted on: Saturday, 30 October 2004, 03:00 CDT E-mail this to a friend Printable version Discuss this story in the forum Change Font Size: A A A Joubert Syndrome: Long-Term Follow-Up Little is known about the long-term outcome of Joubert syndrome. Some authors suggest that nearly all living children with this disorder have severe disabilities (Boltshauser et al. 1977, Curatolo et al. 1980, Aicardi et al. 1983, Gitten et al. 1998) and that both cognitive and motor functions will deteriorate with time (Cantani et al. 1990). Others have indicated a much better outcome (Zeigler et al. 1990). In the present study we recalled and reviewed all patients diagnosed as having Joubert syndrome over the past 15 years at the Great Ormond Street Hospital for Children, London, to establish the clinical outcome, assess any evidence of progression, and look for evidence of biochemical abnormalities. Methods The study was performed at Great Ormond Street Hospital for Children. Ethical approval was obtained from the hospital's ethics committee, and informed consent was obtained from the parents of each patient. Patients with a diagnosis of Joubert syndrome were located from the ophthalmology, neurology, and genetic departments' databases. Diagnosis depended upon the presence of abnormal neonatal breathing, abnormal eye movements, developmental delay, and an abnormal cerebellar vermis. The case notes, blood results, renal tract investigations, and computerized tomography (CT) or magnetic resonance imaging (MRI) scans were reviewed and arrangements were made to recall the patients. Those examinations that had previously been inadequate or overlooked were repeated at recall.

80. Organization Information Joubert Syndrome Foundation 6931 South Committed to educating professionals and families about joubert syndrome, andhelping families through sharing of knowledge, experience and emotional http://www.independentcharities.org/search/detail.asp?ID=4713

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