Gribouval O - Search Results

1

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.

Saei H, Morinière V, Heidet L, Gribouval O, Lebbah S, Tores F, Mautret-Godefroy M, Knebelmann B, Burtey S, Vuiblet V, Antignac C, Nitschké P, Dorval G. Saei H, et al. Among authors: gribouval o. iScience. 2023 Jun 17;26(7):107171. doi: 10.1016/j.isci.2023.107171. eCollection 2023 Jul 21. iScience. 2023. PMID: 37456840 Free PMC article.

2

Inherited renal tubular dysgenesis: the first patients surviving the neonatal period.

Zingg-Schenk A, Bacchetta J, Corvol P, Michaud A, Stallmach T, Cochat P, Gribouval O, Gubler MC, Neuhaus TJ. Zingg-Schenk A, et al. Among authors: gribouval o. Eur J Pediatr. 2008 Mar;167(3):311-6. doi: 10.1007/s00431-007-0492-1. Epub 2007 Apr 19. Eur J Pediatr. 2008. PMID: 17443344 Free article.

3

Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.

Michaud A, Bur D, Gribouval O, Muller L, Iturrioz X, Clemessy M, Gasc JM, Gubler MC, Corvol P. Michaud A, et al. Among authors: gribouval o. Hum Mol Genet. 2011 Jan 15;20(2):301-11. doi: 10.1093/hmg/ddq465. Epub 2010 Oct 29. Hum Mol Genet. 2011. PMID: 21036942

4

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.

5

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

6

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.

7

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

8

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.

9

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S. Mollet G, et al. Among authors: gribouval o. Nat Genet. 2002 Oct;32(2):300-5. doi: 10.1038/ng996. Epub 2002 Sep 9. Nat Genet. 2002. PMID: 12244321

10

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.

Roselli S, Moutkine I, Gribouval O, Benmerah A, Antignac C. Roselli S, et al. Among authors: gribouval o. Traffic. 2004 Jan;5(1):37-44. doi: 10.1046/j.1600-0854.2003.00148.x. Traffic. 2004. PMID: 14675423 Free article.

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