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NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C. Boute N, et al. Among authors: niaudet p. Nat Genet. 2000 Apr;24(4):349-54. doi: 10.1038/74166. Nat Genet. 2000. PMID: 10742096
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac C K, Kashtan CE, Homberg C, Olsen A, Kestilä M, Tryggvason K. Lenkkeri U, et al. Among authors: niaudet pm. Am J Hum Genet. 1999 Jan;64(1):51-61. doi: 10.1086/302182. Am J Hum Genet. 1999. PMID: 9915943 Free PMC article.
Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population.
Fuchshuber A, Niaudet P, Gribouval O, Jean G, Gubler MC, Broyer M, Antignac C. Fuchshuber A, et al. Among authors: niaudet p. Pediatr Nephrol. 1996 Apr;10(2):135-8. doi: 10.1007/BF00862052. Pediatr Nephrol. 1996. PMID: 8703694
Cyclosporin in the treatment of idiopathic nephrotic syndrome in children.
Niaudet P, Habib R, Tete MJ, Hinglais N, Broyer M. Niaudet P, et al. Pediatr Nephrol. 1987 Oct;1(4):566-73. doi: 10.1007/BF00853590. Pediatr Nephrol. 1987. PMID: 3153333
Congenital nephrotic syndrome: commentary.
Niaudet P. Niaudet P. Pediatr Nephrol. 2001 Feb;16(2):190-1. doi: 10.1007/s004670000521. Pediatr Nephrol. 2001. PMID: 11261690 No abstract available.
[Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive].
Boute N, Roselli S, Gribouval O, Niaudet P, Gubler MC, Antignac C. Boute N, et al. Among authors: niaudet p. Nephrologie. 2002;23(1):35-6. Nephrologie. 2002. PMID: 11908478 French. No abstract available.
[Update on nephrotic syndrome].
Niaudet P, Antignac C. Niaudet P, et al. Arch Pediatr. 2001 May;8 Suppl 2:311s-313s. doi: 10.1016/s0929-693x(01)80056-7. Arch Pediatr. 2001. PMID: 11394098 French. No abstract available.
Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.
Fuchshuber A, Jean G, Gribouval O, Gubler MC, Broyer M, Beckmann JS, Niaudet P, Antignac C. Fuchshuber A, et al. Among authors: niaudet p. Hum Mol Genet. 1995 Nov;4(11):2155-8. doi: 10.1093/hmg/4.11.2155. Hum Mol Genet. 1995. PMID: 8589695
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chrétien D, Kadhom N, Lombès A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rötig A. de Lonlay P, et al. Among authors: niaudet p. Nat Genet. 2001 Sep;29(1):57-60. doi: 10.1038/ng706. Nat Genet. 2001. PMID: 11528392
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis.
Yang Y, Jeanpierre C, Dressler GR, Lacoste M, Niaudet P, Gubler MC. Yang Y, et al. Among authors: niaudet p. Am J Pathol. 1999 Jan;154(1):181-92. doi: 10.1016/S0002-9440(10)65264-9. Am J Pathol. 1999. PMID: 9916932 Free PMC article.
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