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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: gribouval o. Nat Genet. 2000 Apr;24(4):349-54. doi: 10.1038/74166. Nat Genet. 2000. PMID: 10742096
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: gribouval o. Hum Mol Genet. 1995 Nov;4(11):2155-8. doi: 10.1093/hmg/4.11.2155. Hum Mol Genet. 1995. PMID: 8589695
High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.
Jean G, Fuchshuber A, Town MM, Gribouval O, Schneider JA, Broyer M, van't Hoff W, Niaudet P, Antignac C. Jean G, et al. Among authors: gribouval o. Am J Hum Genet. 1996 Mar;58(3):535-43. Am J Hum Genet. 1996. PMID: 8644713 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: gribouval o. Pediatr Nephrol. 1996 Apr;10(2):135-8. doi: 10.1007/BF00862052. Pediatr Nephrol. 1996. PMID: 8703694
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C. Town M, et al. Among authors: gribouval o. Nat Genet. 1998 Apr;18(4):319-24. doi: 10.1038/ng0498-319. Nat Genet. 1998. PMID: 9537412
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: gribouval o. Am J Hum Genet. 1999 Jan;64(1):51-61. doi: 10.1086/302182. Am J Hum Genet. 1999. PMID: 9915943 Free PMC article.
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, Penet C, Perrault I, Ducroq D, Souied E, Jeanpierre M, Romana S, Frézal J, Ferraz F, Yu-Umesono R, Munnich A, Kaplan J. Gerber S, et al. Among authors: gribouval o. Hum Genet. 2000 Sep;107(3):276-84. doi: 10.1007/s004390000350. Hum Genet. 2000. PMID: 11071390
Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood.
Fuchshuber A, Gribouval O, Ronner V, Kroiss S, Karle S, Brandis M, Hildebrandt F. Fuchshuber A, et al. Among authors: gribouval o. J Am Soc Nephrol. 2001 Feb;12(2):374-8. J Am Soc Nephrol. 2001. PMID: 11158229
Podocin localizes in the kidney to the slit diaphragm area.
Roselli S, Gribouval O, Boute N, Sich M, Benessy F, Attié T, Gubler MC, Antignac C. Roselli S, et al. Among authors: gribouval o. Am J Pathol. 2002 Jan;160(1):131-9. doi: 10.1016/S0002-9440(10)64357-X. Am J Pathol. 2002. PMID: 11786407 Free PMC article.
[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: gribouval o. Nephrologie. 2002;23(1):35-6. Nephrologie. 2002. PMID: 11908478 French. No abstract available.
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