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Results 1 - 8 of 8 for "Bardet-Biedl" syndrome 15
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  1. Bardet-Biedl syndrome 
    ... Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Curr Opin Genet Dev. 2005 Jun;15(3):315-23. doi: 10.1016/j.gde. ... 1007/s00467-007-0435-0. Epub 2007 Mar 15. Citation on PubMed ... insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009 Mar; ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  2. MKKS gene 
    ... Sheffield VC, Biesecker LG. Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet. 2000 Sep;26(1):15-6. doi: 10.1038/79116. Erratum In: Nat ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  3. McKusick-Kaufman syndrome 
    ... LG. Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. Am J Med Genet. 2000 Nov 27;95(3):208-15. Citation on PubMed Slavotinek AM. McKusick-Kaufman Syndrome. ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  4. BBS10 gene 
    ... CA, Sheffield VC, Maher ER. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. Eur J Hum Genet. 2007 Feb;15(2):173-8. doi: 10.1038/sj.ejhg. ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  5. BBS1 gene 
    ... of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet. 2002 Aug;31(4):435-8. doi: 10.1038/ng935. Epub 2002 Jul 15. Citation on PubMed Nachury MV, Loktev AV, Zhang ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  6. CEP290 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Bardet-Biedl syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  7. Retinitis pigmentosa 
    ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa ( ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  8. NPHP1 gene 
    ... at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1;94( ... Ronquillo CC, Bernstein PS, Baehr W. Senior-Loken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vision Res. 2012 Dec 15;75:88-97. doi: 10.1016/j.visres. ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics