81. %243910 ARIMA SYNDROME joubert syndrome WITH BILATERAL CHORIORETINAL COLOBOMA joubert syndrome (213300)is aplasia of the cerebellar vermis with episodic hyperpnea, http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:243910] -e

82. %608091 CEREBELLOOCULORENAL SYNDROME 2; CORS2 CORSs are often considered variants of joubert syndrome (see 213300). A genomewide search in 10 small families with joubert syndrome (213300) failed to http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:608091] -e

83. University Of Washington Joubert Center Dear Participants and Families in joubert syndrome Research, As part of ourjoubert syndrome research in Seattle, we have likely tested DNA samples from http://joubertsyndrome.washington.edu/

University of Washington Joubert Center Home Who We Are Diagnosis Molar Tooth Sign ... Arabic History Frequently Asked Questions Related Syndromes Contact Information Joubert Syndrome Foundation Welcome to the University of Washington Joubert website. We are a group of researchers under the leadership of Dr. Phillip Chance who have been studying Joubert syndrome and related cerebellar malformations since the early 1990s. We are trying to identify the genes that cause these conditions. You can contact Melissa Parisi for more information or to participate in our research. Below you will see the molar tooth sign. This is a characteristic finding on brain imaging studies in children with Joubert syndrome. January 11, 2005 Dear Participants and Families in Joubert Syndrome Research, During the past year, two genes were found that when carrying DNA changes (mutations) can cause Joubert syndrome. We are writing to clarify some of the clinical implications of these discoveries and to provide information regarding your participation in Joubert syndrome research at the University of Washington. Our laboratory identified the NPHP1 gene as causative in a subset of children with Joubert syndrome, particularly those with a specific form of kidney disease known as juvenile-onset nephronophthisis. Another laboratory in Boston first identified the AHI1 gene in several Joubert families from the Middle East. We have carried out a large-scale effort to screen DNA samples from children with Joubert syndrome to test for mutations in either of these two genes. Based on our results to date, we believe that these 2 genes may account for only approximately 10-15% of children with Joubert syndrome. Therefore, the importance of continuing our efforts to find disease-causing genes for Joubert syndrome is clear.

84. Gene For Joubert Syndrom With Excessive Brain Folds Discovered By UCSD Researche The AHI1 gene mutation is responsible for a form of joubert syndrome manifested by Although joubert syndrome is relatively rare, we think that the genes http://health.ucsd.edu/news/2004/10_20_Gleeson.html

October 20, 2004 Gene for Joubert Syndrome with Excessive Brain Folds Discovered By UCSD Researchers and Harvard Team Researchers at the University of California, San Diego (UCSD) School of Medicine have discovered the gene for a form of Joubert Syndrome, a condition present before birth that affects an area of the brain controlling balance and coordination in about 1 in 10,000 individuals. Their study, published in the November 2004 issue of the American Journal of Human Genetics*, pointed to mutations in a gene called AHI1 that lead to the production of a protein the scientists named Jouberin. Separate research by a team from Harvard Medical School concurrently identified the same gene in a paper published in the September 2004 issue of the journal Nature Genetics.** Both the UCSD and Harvard studies were published online prior to the print publications. The AHI1 gene mutation is responsible for a form of Joubert Syndrome manifested by absence of part of the cerebellum, the part of the brain controlling balance, and by excessive folding in the cerebral cortex, the part of the brain controlling consciousness and thought. The results from both UCSD and Harvard involved a gene-by-gene search of chromosome 6 DNA from three families studied by UCSD and three separate families studied by Harvard. Researchers believe the disorder linked to chromosome 6 is the most common of the three known forms of Joubert Syndrome. “This is a tremendously exciting finding because it is the first genetic defect clearly associated with this condition. Although Joubert Syndrome is relatively rare, we think that the genes causing this condition are going to underlie more common childhood brain and behavioral abnormalities, such as autism, mental retardation, and poor coordination” said the UCSD paper’s senior author, Joseph Gleeson, M.D., assistant professor of neurosciences at UCSD and Children’s Hospital San Diego.

85. 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 Gleeson, who has studied joubert syndrome for several years, http://health.ucsd.edu/news/2003/09_03_Gleeson.html

September 3, 2003 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.

86. Joubert Syndrome: Report Of A Neonatal Case Translate this page to establish the exact clinical diagnostic boundaries of joubert syndrome.A case of joubert syndrome in a newborn is reported and the importance of http://www.pulsus.com/Paeds/08_08/arkc_ed.htm

forgot your password? CASE REPORTS October 2003, Volume 8, Number 8: Joubert syndrome: Report of a neonatal case M Akcakus, T Gunes, S Kumandas, S Kurtoglu, A Coskun Key Words: Abnormal respiratory pattern; Ataxia; Cerebellar hypoplasia; Joubert syndrome; Newborn Order Full Text -For a nominal fee order online and receive a copy of this article either by email, fax or mail Pdf Format - Registered users can view the complete article in Pdf format. REGISTERED USERS LOGIN REGISTER NOW! Le syndrome de Joubert : Compte rendu d’un cas néonatal Order Full Text -For a nominal fee order online and receive a copy of this article either by email, fax or mail

87. Health/Conditions And Diseases/Genetic Disorders/Joubert Syndrome -- The Doctors Ask the doctor. Get free medical consultation and advice. Choose a medicalspecialist and post your question! Doctors in all medical fields are available. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Genetic_Disor

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... The Genetics of Joubert Syndrome and Related Disorders Information is presented for both physicians and families with affected children, including disease description, treatment options, prognosis, and current research. url: www.ccm.ucsd.edu/jsrd.htm Joubert Syndrome Information sheet compiled by NINDS. url: www.ninds.nih.gov/disorders/joubert/joubert.htm Joubert Syndrome Foundation Organization, conferences and contact details. FAQs about the disease, information center and resources. url: www.joubertfoundation.com/ National Library of Medicine: Joubert syndrome Synonyms, a summary and a list of major features for this disorder. url: www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome3...

88. Radiology, University Of Rochester Medical Center Kendall B, Kingsley D, Lambert SR, Taylor D, Finn P. joubert syndrome a clinical “Joubert” syndrome revisited key ocular motor signs with magnetic http://www.urmc.rochester.edu/smd/Rad/neurocases/Neurocase13.htm

Radiology Home Department Overview Faculty Residency ... Next Case Neuroradiology Case of the Week Case 13 Ramon de Guzman, MD, Yuji Numaguchi, MD, PhD, P-L Westesson, MD, PhD, DDS, Larry Buadu, MD, PhD Ahmed Abdelhalim, MD, Manoj Ketkar, MD, and Jose Echeverri, MD Clinical Presentation The patient is a 20-year-old with history of left facial spasm and seizures. Previous head MRI examinations showed a mass at the quadrigeminal plate cistern and posterior fossa findings suggestive of Dandy-Walker variant. Radiographic Findings: MRI of the head showed interval increase in size of the previously noted mass at the quadrigeminal plate cistern which is hyperintense in T1 weighted images, T2 weighted images and FLAIR images. No definite enhancement is seen in post-contrast images. Posterior fossa findings include absence of the vermis and apposition of the cerebellar hemispheres at the midline ( Fig. 1

89. Syndroom Van Joubert CysticRetinal Aplasia joubert syndrome Polydactyly-joubert syndrome RetinalAplastic-Cystic Kidneys-joubert syndrome Vermis Aplasia http://www.erfelijkheid.nl/zena/joube.php

A B C D ... OVERIG Syndroom van Joubert Synoniemen 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 Korte beschrijving Het syndroom is een bijzonder zeldzame neurologische aandoening. De hersenstructuur is onvoldoende ontwikkeld, wat een verminderde spierspanning, ontwikkelingsachterstand, abnormale ademhaling en abnormale oogbeweging als gevolg heeft. Diagnose De diagnose kan worden gesteld door intensief neurologisch onderzoek. Behandeling Er is geen behandeling bekend voor het syndroom van Joubert. Voorkomen (frequentie) Extreem zeldzaam. Overerving Autosomaal recessief ( zie de animatie 'overerving en dragerschap' Meer informatie BOSK Vereniging van motorisch gehandicapten en hun ouders Joubert Syndrome Foundation Informatie, engelstalig

90. Joubert Syndrome Prev Term Jordan Next Term journal. joubert syndrome. Use. genetic disorder.Use. syndrome. Send your comments to MultiTes. http://crisp.cit.nih.gov/Thesaurus/00012624.htm

Prev Term: Jordan Next Term: journal Joubert syndrome Use: genetic disorder Use: syndrome Send your comments to: Melody Lowe

91. Gene Mutation Identified In Joubert Syndrome Two separate research teamsone at the University of California, San Diego Schoolof Medicine (UCSD), the other at Harvard Medical Schoolhave http://rarediseases.about.com/b/a/139564.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases 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 Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Gene mutation identified in Joubert syndrome Rare/Orphan Diseases Blog Main From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter. Sign Up Now! January 15, 2005 Gene mutation identified in Joubert syndrome Two separate research teamsone at the University of California, San Diego School of Medicine (UCSD), the other at Harvard Medical Schoolhave concurrently identified the same gene responsible for a form of Joubert syndrome , a brain disorder. The AHI1 gene mutation identified is on chromosome 6, and is the first genetic defect clearly associated with the syndrome. The researchers believe the genes causing Joubert syndrome will also shed light on other brain disorders such as autism and mental retardation. Email to a Friend Display Latest Headlines Read Archives powered by Movable Type Advertisement Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55')

92. Joubert Syndrome - Patient UK joubert syndrome Patient UK. A directory of UK health, disease, illness andrelated medical websites that provide patient information. http://www.patient.co.uk/showdoc/40001737/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Joubert Syndrome Synonyms: Joubert-Boltshauser syndrome; cerebelloparenchymal disorder IV; familial cerebellar vermis agenesis; cerebellooculorenal syndrome 1. A rare familial syndrome characterised by absence or malformation of the cerebellar vermis. Transmitted as an autosomal recessive trait (genetic heterogeneity - chromosome 9 is a possible candidate). Presentation Onset is in early infancy with abnormally rapid breathing , jerky eye movements, mental retardation , hemifacial spasms, seizures and ataxia. Abnormal behaviour, including self-mutilation, may develop. Signs A range of physical deformities may be present and these include chorioretinal coloboma and retinal dysplasia, tongue protrusion, polydactyly and hypotonia. Investigations MRI findings include dilated cisterna magna, Occipital meningoencephalocele, Dandy-Walker malformation, hypoplasia of the corpus callosum, retrobulbar cystic mass. Abdominal ultrasound may show cystic kidneys. Management Treatment is symptomatic and supportive and will include physiotherapy, occupational and speech therapy. The parents will need a great deal of support.

93. CCM Contact Information joubert syndrome (JS) is a rare genetic developmental disorder, first identifiedin 1969. In patients with JS, certain regions of the brain are http://gleesongenetics.ucsd.edu/js.htm

The Center for Cerebellar Malformations CCM Home Contact us What is Joubert Syndrome? Joubert Syndrome (JS) is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain are underdeveloped or malformed. These areas (notably the cerebellar vermis and brainstem) include those affecting the centers for balance and coordination. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient. Features that can be associated with JS: Difficulty breathing, including: a) Irregular pattern b) Panting/labored breathing c) Apnea (breathing stops momentarily) Difficulty with balance (ataxia) Limpness/lack of muscle tone or hypotonia Eye movement abnormalities Head/skull/brain malformations including a) Encephalocele-a hole in the skull, such that it does not fully cover the brain b) Meningocele-a hole in the membrane around the brain c) Hydrocephalus-too much fluid around the brain (also referred to as water on the brain) Kidney problems including a) Cysts (including polycystic kidney disease) b) Nephronopthesis c) Failure Vision problems including blindness Liver problems Polydactyly (more than five fingers or toes per limb) Tongue tumors Pituitary abnormality Austitic-like behavior Click here more information about other syndromes related to JS.

94. Www.ruancrouse.org Read about a young boy suffering from joubert's syndrome who lives in South Africa. http://www.ruancrouse.org

This site is designed for frames however you can navigate the menu from here

95. Joubert's Syndrome (www.whonamedit.com) joubert s syndrome A rare, genetic disorder that affects the area of the brainthat controls balance and coordination. Also known as joubertBoltshauser http://www.whonamedit.com/synd.cfm/2702.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related 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).

96. Healthfinder® - Joubert's Syndrome Carefully selected government and nonprofit health information on joubert s syndrome. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=952

97. Birth Disorder Information Directory - J Jorgenson Lenz syndrome. joubert (Boltshauser) syndrome (CerebelloparenchymalDisorder IV, Cerebellar Vermis Agenesis). joubertBoltshauser syndrome 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

98. Joubert S Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/JOUBERTS SYNDRO

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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 Corporate Products Financial Services Our Commitment ... Terms of Conditions

99. Joubert S Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/JOUBERTS SYNDROM

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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 Corporate Products Financial Services Our Commitment ... Terms of Conditions

100. Joubert's Syndrome - Definition Of Joubert's Syndrome In The Medical Dictionary Definition of joubert s syndrome in the Medical Dictionary and Thesaurus.joubert s syndrome explanation. Information about joubert s syndrome in Free http://medical-dictionary.thefreedictionary.com/Joubert's syndrome

Domain='thefreedictionary.com' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia Joubert's syndrome 0.02 sec. Page tools Printer friendly Cite / link Email Feedback Jou·bert's syndrome (zh -b rz n. A syndrome of neurological disorders caused by agenesis of the vermis of the brain and characterized by attacks of tachypnea or prolonged apnea, abnormal eye movements, ataxia, and mental retardation. Mentioned in No references found Medical browser Full browser Johannsen johnny joint joint capsule ... Joliot-Curie Joubert's syndrome joule jowl JRA jugal ... Joubert syndrome Joubert's syndrome Joubert, John Joubert, Joseph Joubert, Joseph Joubert, Piet (Petrus Jacobus) ... Joukovsky Word (phrase): Word Starts with Ends with Definition Free Tools: For surfers: Browser extension Word of the Day NEW!

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-100 of 102    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20