Gribouval O - Search Results

1

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.

2

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

3

Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome.

Fuchshuber A, Janssen F, Gribouval O, Niaudet P, Kamoun A, Antignac C. Fuchshuber A, et al. Among authors: gribouval o. Lancet. 1996 Apr 13;347(9007):1050-1. doi: 10.1016/s0140-6736(96)90193-2. Lancet. 1996. PMID: 8606597 No abstract available.

4

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.

5

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

6

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

7

[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.

8

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

Weber S, Gribouval O, Esquivel EL, Morinière V, Tête MJ, Legendre C, Niaudet P, Antignac C. Weber S, et al. Among authors: gribouval o. Kidney Int. 2004 Aug;66(2):571-9. doi: 10.1111/j.1523-1755.2004.00776.x. Kidney Int. 2004. PMID: 15253708 Free article.

9

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

Philippe A, Nevo F, Esquivel EL, Reklaityte D, Gribouval O, Tête MJ, Loirat C, Dantal J, Fischbach M, Pouteil-Noble C, Decramer S, Hoehne M, Benzing T, Charbit M, Niaudet P, Antignac C. Philippe A, et al. Among authors: gribouval o. J Am Soc Nephrol. 2008 Oct;19(10):1871-8. doi: 10.1681/ASN.2008010059. Epub 2008 Jul 9. J Am Soc Nephrol. 2008. PMID: 18614772 Free PMC article.

10

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.

Machuca E, Benoit G, Nevo F, Tête MJ, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler MC, Antignac C. Machuca E, et al. Among authors: gribouval o. J Am Soc Nephrol. 2010 Jul;21(7):1209-17. doi: 10.1681/ASN.2009121309. Epub 2010 May 27. J Am Soc Nephrol. 2010. PMID: 20507940 Free PMC article.

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