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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Nature genetics, 2000-04, Vol.24 (4), p.349-354

2000

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Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome

Journal of the American Society of Nephrology, 2002-02, Vol.13 (2), p.388-393

2002

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Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

Kidney international, 2003-11, Vol.64 (5), p.1580-1587

2003

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Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

Human genetics, 2006-07, Vol.119 (6), p.649-658

2006

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Patients with mutations in NPHS2 (Podocin) do not respond to standard steroid treatment of nephrotic syndrome

Journal of the American Society of Nephrology, 2004-03, Vol.15 (3), p.722-732

2004

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Telomeric refinement of the MCKD1 locuson chromosome 1q21

Kidney international, 2004-08, Vol.66 (2), p.580-585

2004

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Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia

Molecular genetics and metabolism, 2010, Vol.100, p.S31-S36

2010

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Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome

Kidney international, 2004-08, Vol.66 (2), p.564-570

2004

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Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B

Pediatric nephrology (Berlin, West), 1998, Vol.12 (1), p.16-19

1998

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No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations

Pediatric nephrology (Berlin, West), 2004-12, Vol.19 (12), p.1340-1348

2004

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Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2 : Two facets of the same disease?

Journal of the American Society of Nephrology, 2001-11, Vol.12 (11), p.2348-2357

2001

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Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood

Journal of the American Society of Nephrology, 2001-02, Vol.12 (2), p.374-378

2001

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Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p

Journal of the American Society of Nephrology, 2003-07, Vol.14 (7), p.1897-1900

2003

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Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis

Human molecular genetics, 1995-11, Vol.4 (11), p.2155-2158

1995

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Familial steroid‐resistant nephrotic syndromes: recent advances

Nephrology, dialysis, transplantation, 2000-12, Vol.15 (12), p.1897-1900

2000

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Telomeric refinement of the MCKD1 locus on chromosome 1q21

Kidney international, 2004-08, Vol.66 (2), p.580-585

2004

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Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing

Kidney international, 2003-09, Vol.64 (3), p.788-792

2003

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Telomeric refinement of the MCKD1 locuson chromosome 1q21See Editorial by Bichet and Fujiwara, p. 864

Kidney international, 2004-08, Vol.66 (2), p.580-585

2004

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Telomeric refinement of the MCKD1 locuson chromosome 1q211

Kidney international, 2004-08, Vol.66 (2), p.580

2004

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A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2

Journal of the American Society of Nephrology, 2003-06, Vol.14 (6), p.1519-1522

2003

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Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease

Nephrology, dialysis, transplantation, 2000-06, Vol.15 (6), p.818-821

2000

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Clinical and Genetic Features of Familial Nephrotic Syndromes

Pediatric research, 1999-04, Vol.45 (4, Part 2 of 2), p.332-332A

1999

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Autosomal dominant medullary cystic kidney disease : evidence of gene locus heterogeneity

Nephrology, dialysis, transplantation, 1998-08, Vol.13 (8), p.1955-1957

1998

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Five patients with a biotin-responsive defect in holocarboxylase formation : Evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro

Pediatric research, 1997-05, Vol.41 (5), p.666-673

1997

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High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis

American journal of human genetics, 1996-03, Vol.58 (3), p.535-543

1996

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Child, Preschool
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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

Patients with mutations in NPHS2 (Podocin) do not respond to standard steroid treatment of nephrotic syndrome

Telomeric refinement of the MCKD1 locuson chromosome 1q21

Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia

Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome

Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations

Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2 : Two facets of the same disease?

Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood

Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p

Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis

Familial steroid‐resistant nephrotic syndromes: recent advances

Telomeric refinement of the MCKD1 locus on chromosome 1q21

Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing

Telomeric refinement of the MCKD1 locuson chromosome 1q21See Editorial by Bichet and Fujiwara, p. 864

Telomeric refinement of the MCKD1 locuson chromosome 1q211

A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease

Clinical and Genetic Features of Familial Nephrotic Syndromes

Autosomal dominant medullary cystic kidney disease : evidence of gene locus heterogeneity

Five patients with a biotin-responsive defect in holocarboxylase formation : Evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis

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