Finnish congenital nephrotic syndrome

Known as: NPHS1, Nephrotic Syndrome - NPHS1 Associated, NEPHROTIC SYNDROME, CONGENITAL 
Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three… (More)
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
BACKGROUND AND OBJECTIVES Up to 95% of children presenting with steroid-resistant nephrotic syndrome in early life will have a… (More)
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2010
2010
Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients… (More)
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Highly Cited
2010
Highly Cited
2010
BACKGROUND AND OBJECTIVES Mutations in podocyte genes are associated with steroid-resistant nephrotic syndrome (SRNS), mostly… (More)
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Highly Cited
2004
Highly Cited
2004
BACKGROUND Mutations of NPHS2 are causative in familial autosomal-recessive (AR) and sporadic steroid-resistant nephrotic… (More)
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Highly Cited
2004
Highly Cited
2004
Congenital nephrotic syndrome (CNS) is clinically and genetically heterogeneous, with mutations in WT1, NPHS1 and NPHS2… (More)
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Highly Cited
2002
Highly Cited
2002
BACKGROUND Congenital nephrotic syndrome of the Finnish type (CNF, NPHS1) is caused by mutations in the NPHS1 gene. NPHS1 codes… (More)
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Highly Cited
2002
Highly Cited
2002
Mutations of the novel renal glomerular genes NPHS1 and NPHS2 encoding nephrin and podocin cause two types of severe nephrotic… (More)
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Highly Cited
2000
Highly Cited
2000
BACKGROUND Congenital nephrotic syndrome (NPHS1) is a rare disease inherited as an autosomally recessive trait. The NPHS1 gene… (More)
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Highly Cited
1999
Highly Cited
1999
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal recessive disorder that is caused by mutations in the… (More)
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Highly Cited
1998
Highly Cited
1998
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive disorder, characterized by massive… (More)
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