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Results 1 - 10 of 20 for Ciliopathy
  1. Nephronophthisis 
    ... these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by ... TW, Hildebrandt F. Mechanisms of nephronophthisis and related ciliopathies. Nephron Exp Nephrol. 2011;118(1):e9-14. ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  2. Bardet-Biedl syndrome 
    ... Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet. ... Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009 Mar;119(3):428- ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  3. Congenital hepatic fibrosis 
    ... Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet. ... N, McLin V. Liver involvement in children with ciliopathies. Clin Res Hepatol Gastroenterol. 2014 Sep;38(4): ...
    https://medlineplus.gov/.../condition/congenital-hepatic-fibrosis - Genetics
  4. Meckel syndrome 
    ... Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube ...
    https://medlineplus.gov/genetics/condition/meckel-syndrome - Genetics
  5. Senior-Løken syndrome 
    ... SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 2010 Oct;42(10):840-50. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  6. Oral-facial-digital syndrome 
    ... Toriello HV. Are the oral-facial-digital syndromes ciliopathies? Am J Med Genet A. 2009 May;149A( ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  7. Asphyxiating thoracic dystrophy 
    ... of a group of disorders known as skeletal ciliopathies or ciliary chondrodysplasias, all of which are caused ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  8. Cranioectodermal dysplasia 
    Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
  9. Joubert syndrome 
    Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  10. Acrocallosal syndrome 
    Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), ...
    https://medlineplus.gov/genetics/condition/acrocallosal-syndrome - Genetics
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