Autosomal Recessive Polycystic Kidney Disease

Known as: Polycystic Kidney Disease, Autosomal Recessive, POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1, Polycystic Kidney Disease, Infantile, Type I 
A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious… (More)
National Institutes of Health

Papers overview

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Review
2009
Review
2009
A number of inherited disorders result in renal cyst development. The most common form, autosomal dominant polycystic kidney… (More)
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Review
2007
Review
2007
The phenotypes that are associated with the common forms of polycystic kidney disease (PKD)--autosomal dominant (ADPKD) and… (More)
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Highly Cited
2003
Highly Cited
2003
OBJECTIVE We designed a longitudinal clinical database for autosomal recessive polycystic kidney disease (ARPKD), recruited… (More)
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Highly Cited
2003
Highly Cited
2003
Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity… (More)
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Highly Cited
2002
Highly Cited
2002
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis… (More)
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Highly Cited
2002
Highly Cited
2002
Recent evidence has suggested an association between structural and/or functional defects in the primary apical cilium of… (More)
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Highly Cited
2001
Highly Cited
2001
In this report, we show that the Caenorhabditis elegans gene osm-5 is homologous to the Chlamydomonas gene IFT88 and the mouse… (More)
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Highly Cited
2000
Highly Cited
2000
Intraflagellar transport (IFT) is a rapid movement of multi-subunit protein particles along flagellar microtubules and is… (More)
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Highly Cited
1998
Highly Cited
1998
Germline mutations in PKD2 cause autosomal dominant polycystic kidney disease. We have introduced a mutant exon 1 in tandem with… (More)
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Review
1992
Review
1992
Autosomal recessive polycystic kidney disease is a rare inherited disorder which usually becomes clinically manifest in early… (More)
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