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Results 1 - 9 of 9 for Joubert syndrome 10
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  1. Joubert syndrome 
    ... Disorders (NORD) ClinicalTrials.gov JOUBERT SYNDROME 1; JBTS1 JOUBERT SYNDROME 10; JBTS10 JOUBERT SYNDROME 2; JBTS2 JOUBERT SYNDROME 3; JBTS3 JOUBERT SYNDROME ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. OFD1 gene 
    ... PubMed OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1 JOUBERT SYNDROME 10; JBTS10 NCBI Gene ClinVar Bisschoff IJ, Zeschnigk C, ... Brouwer AP. OFD1 is mutated in X-linked Joubert syndrome and interacts with ... 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002. Citation on ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  3. CEP290 gene 
    ... encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006 Jun;38(6):623-5. doi: 10.1038/ng1805. Epub 2006 May 7. Citation on ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  4. NPHP1 gene 
    ... is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 Jul;75(1):82-91. doi: 10.1086/421846. Epub 2004 May 11. Citation on ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  5. KIF7 gene 
    ... Schermer B, Bolz HJ. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011 Jul;121(7):2662-7. doi: 10.1172/JCI43639. Citation on PubMed or Free article ...
    https://medlineplus.gov/genetics/gene/kif7 - Genetics
  6. Polymicrogyria 
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... Walsh CA. Bilateral generalized polymicrogyria (BGP): a distinct syndrome of ... Neurology. 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187. ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  7. Nephronophthisis 
    ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  8. L1 syndrome 
    ... Hum Mutat. 2001;18(1):1-12. doi: 10.1002/humu.1144. Citation on PubMed
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  9. Renal tubular dysgenesis 
    ... R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet. 2005 Sep;37(9):964-8. doi: 10.1038/ng1623. Epub 2005 Aug 14. Citation on ...
    https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis - Genetics