Niaudet P - Search Results

1

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

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: niaudet p. Hum Mol Genet. 1995 Nov;4(11):2155-8. doi: 10.1093/hmg/4.11.2155. Hum Mol Genet. 1995. PMID: 8589695

3

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: niaudet p. Am J Hum Genet. 1996 Mar;58(3):535-43. Am J Hum Genet. 1996. PMID: 8644713 Free PMC article.

4

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

5

Genetics of the nephrotic syndrome.

Salomon R, Gubler MC, Niaudet P. Salomon R, et al. Among authors: niaudet p. Curr Opin Pediatr. 2000 Apr;12(2):129-34. doi: 10.1097/00008480-200004000-00008. Curr Opin Pediatr. 2000. PMID: 10763762 Review.

6

[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.

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: niaudet p. Nephrologie. 2002;23(1):35-6. Nephrologie. 2002. PMID: 11908478 French. No abstract available.

8

WT1 and glomerular diseases.

Niaudet P, Gubler MC. Niaudet P, et al. Pediatr Nephrol. 2006 Nov;21(11):1653-60. doi: 10.1007/s00467-006-0208-1. Epub 2006 Aug 23. Pediatr Nephrol. 2006. PMID: 16927106 Review.

9

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S. Delous M, et al. Among authors: niaudet p. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558409

10

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: niaudet p. 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.

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