Nephronophthisis

Known as: NEPHRONOPTHISIS, FAMILIAL JUVENILE, cystic kidneys medullary, Nephronopthisis 
Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1951-2018
0204019512017

Papers overview

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Highly Cited
2011
Highly Cited
2011
Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-recessive ciliopathies presenting with… (More)
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Highly Cited
2010
Highly Cited
2010
Degeneration of photoreceptors is a common feature of ciliopathies, owing to the importance of the specialized ciliary structure… (More)
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Highly Cited
2007
Highly Cited
2007
Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent genetic cause of end-stage renal failure in… (More)
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Highly Cited
2006
Highly Cited
2006
The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in children and young adults, and its… (More)
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Highly Cited
2005
Highly Cited
2005
Cystic renal diseases are caused by mutations of proteins that share a unique subcellular localization: the primary cilium of… (More)
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Highly Cited
2004
Highly Cited
2004
Joubert syndrome (JS) is an autosomal recessive multisystem disease characterized by cerebellar vermis hypoplasia with prominent… (More)
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Highly Cited
2003
Highly Cited
2003
The polycystic kidney diseases (PKDs) are a group of genetic disorders causing significant renal failure and death in children… (More)
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Highly Cited
2003
Highly Cited
2003
The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by… (More)
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Highly Cited
2002
Highly Cited
2002
INTRODUCTION Medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricaemic nephropathy (FJHN) are both autosomal… (More)
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Highly Cited
1997
Highly Cited
1997
Juvenile nephronophthisis (NPH), an autosomal recessive cystic kidney disease, is the primary genetic cause of chronic renal… (More)
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