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51 results

  1. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... View in own window Gene 1 % of All Joubert Syndrome Specific Features that Affect Management Reference(s) AHI1 5%-10% Retinal dystrophy Ferland et ... Evaluation Strategies to Identify the Genetic Cause of Joubert Syndrome in a Proband Management Genetic ... Download Bulk download GeneReviews data from FTP ...
  2. Kidney Cyst | Polycystic Kidney Disease | MedlinePlus 
    https://medlineplus.gov/kidneycysts.html
    ... of Caregiver-Reported Oral Health of Individuals With Joubert Syndrome:... Kidney Cysts -- see more articles Reference Desk Kidneys and Urinary Tract (For Parents) (Nemours ...
  3. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... OFD1 Allelic Disorders View in own window Disorder References OFD1 -related Joubert syndrome Coene et al [2009] , Field et al [2012] , ...
  4. Peters Plus Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1464
    ... posted live 24 July 2007 (ga) Original submission References Literature Cited Boog G, Le Vaillant C, Joubert M. Prenatal sonographic findings in Peters-plus syndrome. Ultrasound Obstet Gynecol. 2005;25:602–6. [ PubMed : ...
  5. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... Congenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Gunay-Aygun M, Gahl WA, Heller T. GeneReviews(®). 1993 Review Joubert Syndrome. [GeneReviews(®). 1993] Review Joubert Syndrome. Glass IA, Dempsey ...
  6. Polymicrogyria 
    https://medlineplus.gov/genetics/condition/polymicrogyria
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the ... CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2005 Apr 18 [updated 2018 Aug 16]. ...
  7. Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK531510
    ... part of syndromes including Senior-Loken syndrome and Joubert syndrome (see Table 2 ). Early molecular diagnosis can help ... waveform. NCL is assoc w/neurocognitive decline & epilepsy. Joubert syndrome >30 genes 5 AR XL 6 Presents w/ ...
  8. Ritscher-Schinzel Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK553049
    ... DiffDx Disorder Overlapping w/RSS Distinguishing from RSS Joubert Syndrome >30 genes 1 AR (XL, digenic ) 2 ID ... Ritscher-Schinzel syndrome; XL = X-linked 1. See Joubert Syndrome . 2. Joubert syndrome is predominantly inherited in an ...
  9. PAX2-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1451
    ... of a PAX gene expressed in the eye Joubert syndrome and related disorders (JSRD) >30 genes AR 5 ... al [2001] 4. Azuma et al [2003] 5. Joubert syndrome is inherited predominantly in an autosomal recessive manner. ...
  10. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Hutterite ... 
    https://www.ncbi.nlm.nih.gov/books/NBK556767
    ... al [2001] , Triggs-Raine et al [2016] CSPP1 Joubert syndrome AR c.363_364delTA p.His121GlnfsTer22 ~100% 2 ... et al [2001] , Chong et al [2012] PIBF1 Joubert syndrome AR c.1910A>C p.Asp637Ala ~100% 2 ...
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