Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 22 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. Alström syndrome 
    Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although ...
    https://medlineplus.gov/genetics/condition/alstrom-syndrome - Genetics
  9. OFD1 gene 
    The OFD1 gene provides instructions for making a protein whose function is not fully understood. It appears to play a critical role in the early development ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  10. 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
previous · 1 · 2 · 3 · next