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         Joubert Syndrome:     more detail
  1. Genodermatoses: Turner Syndrome, Joubert Syndrome, Neurofibromatosis, Von Hippel-lindau Disease, Tuberous Sclerosis, Freeman-Sheldon Syndrome
  2. Shannadoah: A Journey of Discovery About Dandy Walker, Joubert Syndrome, Helpful Resources and More by Shelley Boulet, 2003-04
  3. The Official Parent's Sourcebook on Joubert Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30
  4. Joubert syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Kevin, MS, CGC Sweet, 2005
  5. Joubert syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Kevin, MS, CGC Sweet, Rosalyn, MD Carson-DeWitt, 2005
  6. Malformation Du Système Nerveux: Spina Bifida, Lissencéphalie, Malformations Congénitales Du Système Nerveux Central, Syndrome de Joubert (French Edition)
  7. Fibrocystic Diseases of the Liver (Clinical Gastroenterology)

61. KoreaMed - Basic Search
2002 Oct;6(2)266273. Korean. A Case of joubert syndrome Associated with Nephrocalcinosisand Agenesis of Cerebellar Vermis. joubert syndrome is one of them.
http://www.koreamed.org/SearchBasic.php?RID=85587&DT=1&QY=J Korean Soc Pediatr

62. DW Baby Thought To Have Joubert Syndrome
DW Baby thought to have joubert syndrome. This article babies. So, the docsstarted looking for something else and found joubert syndrome. We
http://neuro-www.mgh.harvard.edu/forum/DandyWalkerF/1.23.9912.37AMDWBabythoughtt
DW Baby thought to have Joubert Syndrome
This article submitted by Kim Quackenbush on 1/23/99.
Email Address: kimquackenbush@earthlink.net
Jessica's DW related problems are:
-DW cyst which caused hydro in 4th ventrical (VP shunt without a valve)
-alternating tachypnea/apnea (panting/not breathing)
-abnormal eye development in the brain stem
-agenesis of the cerabellar vermis
-hypotonia
-Reflux (has Nissenfundalplication and g-tube) I would love to discuss with anyone who is interested or facing the same challeneges the way we are coping with these different things and the way the "joubert mimic" situation played out. Jessica is strong and big and healthy. She smiles and gurgles and is learning to sit up. She is our angel from heaven and we wouldn't trade her for the world. We are thrilled to have our special girl. Have faith. If you're married - GET OUT and have a life. Treasure each other. If your having problems with your insurance company, sue them. Don't isolate. Don't think you have to sacrafice your life because you have a special child. You can have both and your child will be better off - not to mention you! Call on the State agencies to help (they're not as lame as you think). Oh, did I mention, if you have trouble with your insurance company, sue? And definately sue your insurnace company if you have trouble. They need to learn that they are in the business of caring and everyone in the world who has insurance and never gets sick are paying for our children and SO BE IT! They are all still making money, anyway, so DEMAND the best care for your child!

63. Joubert Syndrome Foundation
Return to Search Page joubert syndrome Foundation. 6931 South CarlindaAvenue Columbia, MD 21046 Conditions joubert syndrome. Voicemail yes
http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Joub

64. Health Information Resource Database: Joubert Syndrome Foundation, Inc
joubert syndrome Foundation, Inc. Contact Information. Cheryl Duquette 6931 SouthCarlinda Columbia, MD 21046. Abstract. The joubert syndrome Foundation, Inc.
http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2531

65. Bioline International - Joubert Syndrome: Accuracy Of Neuro-radiological Finding
joubert syndrome accuracy of neuroradiological findings. Abstract. To evaluate theaccuracy of neuroimaging in establishing the diagnosis of joubert syndrome.
http://bioline.utsc.utoronto.ca/archive/00000726/
Bioline International Home About Browse Search ... Help
Joubert syndrome: accuracy of neuro-radiological findings
Lingawi, Sattam S. and Arab, Nahla A. and Fahmy, Yasser Ragab (2004) Joubert syndrome: accuracy of neuro-radiological findings. Journal of Pediatric Neurology Full text available as:
PDF
- Requires Adobe Acrobat Reader or other PDF viewer.
Abstract
EPrint 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 Febuary 2004 Alternative Locations: http://www.bioline.org.br/request?pn04007 http://jpn.webiks.net/msword/v2n1/Joubert%20syndrome%20html.doc
Site Administrator: sweezie@utsc.utoronto.ca

66. Signs And Symptoms Of Joubert Syndrome
joubert syndrome is a rare disorder characterized by hyperpnea, a subtle facial appearance,and associated eye abnormalities that are seen in the newborn period
http://www.medscape.com/viewarticle/462135

67. Ataxia: Recessive
AUTOSOMAL RECESSIVE, or SPORADIC joubert syndrome (Cerebelloparenchymaldisorder IV; CPD IV) l Chromosome 9q34.3 (Some families); Recessive
http://www.neuro.wustl.edu/neuromuscular/ataxia/recatax.html

Front
Search Index Links ...
Ataxia-Oculomotor Apraxia 1
(AOA1): Aprataxin; 9p13
Ataxia-Oculomotor Apraxia 2
(AOA2): Senataxin; 9q34
Ataxia telangectasia
: ATM; 11q22
Ataxia telangectasia-like
(ATLD): MRE11; 11q21
Ataxia with neuropathy

Baltic Myoclonus (Unverricht-Lundborg)
: Cystatin B; 21q22
Cayman ataxia
: ATCAY; 19p13
Cerebelloparenchymal disorders (CPD): II III IV V ...
Charlevoix-Saguenay - Spastic Ataxia
: Sacsin; 13q12 Cockayne Syndrome Coenzyme Q10 deficiency Cytochrome c Oxidase I : Mitochondrial Early onset with retained reflexes (EOCA) Friedreich ataxia : Frataxin (FRDA); 9q13 Friedreich ataxia 2 (FRDA 2): 9p23 Hypogonadism Infantile Onset Spinocerebellar Ataxia Leukoencephalopathy with vanishing white matter Macular dystrophy ... Salla syndrome (Sialic acid storage): SLC17A5; 6q14 Vitamin E deficiency Xeroderma pigmentosum Metabolic ataxias Abetalipoproteinemia : MTP; 4q22 Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis Hartnup ... Hyperammonemic : Urea cycle Hypobetalipoproteinemia : APOB; 2p24, 3p22 L-2 Hydroxyglutaric acidemia Maple Syrup Urine Disease : BCKDH; 19q13

68. Entrez PubMed
Click here to read joubert syndrome a haplotype segregation strategy andexclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
http://www.biomedcentral.com/pubmed/14981711
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Am J Med Genet. 2004 Mar 1;125A(2):117-24; discussion 117. Related Articles, Links
Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene. Bennett CL, Parisi MA, Eckert ML, Huynh HM, Chance PF, Glass IA.

69. Tablica Og³oszeñ - Www.dzieci.org.pl - Syndrom Joubert
E, Isler W. joubert syndrome Episodic hyperpnea, abnormal eye movements, retardationand ataxia, associated with dysplasia of the cerebellar vermis.
http://www.dzieci.bci.pl/cgi-bin/forum/UltraBoard.pl?Action=ShowPost&Board=02&Po

70. Joubert SyndromeÏà¹Ø»ùÒòз¢ÏÖ
joubert syndrome? 20039-10.
http://www.genetide.com/News/ShowNews.asp?id=123506

71. EGGER (1982) - JOUBERT SYNDROME WITH ORO-FACIO-DIGITAL ANOMALIES
Features Listed For EGGER (1982) joubert syndrome WITH ORO-FACIO-DIGITALANOMALIES. McKusick 213300. Apnoea or tachypnoea; Brain
http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?524

72. Alexa Web Search - Subjects > Health > Conditions And Diseases > Genetic Disorde
joubert syndrome Subjects Health Conditions and Diseases Genetic Disorders joubert syndrome. joubert syndrome Information sheet compiled by NINDS. Avg.
http://www.alexa.com/browse/general?catid=521606&mode=general

73. PillSupplier.com - Conditions And Diseases/Genetic Disorders/Joubert Syndrome
Category joubert syndrome. HOME ABOUT US ORDER STATUS BMI CALCULATOR FAQ CONTACT US. Conditions and Diseases/Genetic Disorders/joubert syndrome. Links
http://www.pillsupplier.com/dir/838/
Category: Joubert Syndrome
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74. PillSupplier.com - Detailed View " National Library Of Medicine: Joubert Syndrom
Home Conditions and Diseases Genetic Disorders joubert syndrome National Library of Medicine joubert syndrome. Title National
http://www.pillsupplier.com/dir/detail/10194.html
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HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Joubert Syndrome : National Library of Medicine: Joubert syndrome Title: National Library of Medicine: Joubert syndrome
URL: http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome375.html
Description: Synonyms, a summary and a list of major features for this disorder. Statistics
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75. ZapMeta Directory > Health > Conditions And Diseases > Genetic Disorders > Joube
Web Sites in Category joubert syndrome Display results 1 5 of 5 matches.•. joubert syndrome open this site in a new window Past Versions
http://www.zapmeta.com/search/meta/db.pl?dir=521606

76. The University Of Chicago Press - Doi:10.1086/302655
All rights reserved. Homozygosity Mapping in Families with joubert syndrome Identifiesa Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity.
http://www.journals.uchicago.edu/cgi-bin/resolve?id=doi:10.1086/302655

77. New Page 1
joubert syndrome assoicated to Health Just The Best Results from the LinkspiderOrganization. Click here for joubert syndrome assoicated to Health Websites.
http://www.linkspider.org/index.cgi/Health/ConditionsandDiseases/GeneticDisorder
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78. Analysis Of Joubert Syndrome-1
Analysis of joubert syndrome1, G2D Home. GO TO CHROMOSOMAL REGION Disease mappedjoubert syndrome-1 Chromosome 9 Genomic position start-stop 134500000
http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U50955

79. Entrez PubMed
Abstract, The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis IsPresent in a Subset of Individuals with joubert syndrome. Am J Hum Genet.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=PubMed&details_t

80. Entrez PubMed
Click here to read Homozygosity mapping of a third joubert syndrome locusto 6q23. LagierTourenne C, Boltshauser E, Breivik N, Gribaa
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstra

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