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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: fuchshuber a. Nat Genet. 2000 Apr;24(4):349-54. doi: 10.1038/74166. Nat Genet. 2000. PMID: 10742096
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.
Schultheiss M, Ruf RG, Mucha BE, Wiggins R, Fuchshuber A, Lichtenberger A, Hildebrandt F. Schultheiss M, et al. Among authors: fuchshuber a. Pediatr Nephrol. 2004 Dec;19(12):1340-8. doi: 10.1007/s00467-004-1629-3. Pediatr Nephrol. 2004. PMID: 15338398 Free article.
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
Ruf RG, Lichtenberger A, Karle SM, Haas JP, Anacleto FE, Schultheiss M, Zalewski I, Imm A, Ruf EM, Mucha B, Bagga A, Neuhaus T, Fuchshuber A, Bakkaloglu A, Hildebrandt F; Arbeitsgemeinschaft Für Pädiatrische Nephrologie Study Group. Ruf RG, et al. Among authors: fuchshuber a. J Am Soc Nephrol. 2004 Mar;15(3):722-32. doi: 10.1097/01.asn.0000113552.59155.72. J Am Soc Nephrol. 2004. PMID: 14978175 Free article.
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A. Karle SM, et al. Among authors: fuchshuber a. J Am Soc Nephrol. 2002 Feb;13(2):388-93. J Am Soc Nephrol. 2002. PMID: 11805166
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2.
Ruf RG, Wolf MT, Hennies HC, Lucke B, Zinn C, Varnholt V, Lichtenberger A, Pasch A, Imm A, Briese S, Lennert T, Fuchshuber A, Nurnberg P, Hildebrandt F. Ruf RG, et al. Among authors: fuchshuber a. J Am Soc Nephrol. 2003 Jun;14(6):1519-22. doi: 10.1097/01.asn.0000066141.55735.8d. J Am Soc Nephrol. 2003. PMID: 12761252
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. J Am Soc Nephrol. 2001 Feb;12(2):374-8. J Am Soc Nephrol. 2001. PMID: 11158229
Cyclosporine in the therapy of steroid-resistant idiopathic nephrotic syndrome.
Niaudet P, Fuchshuber A, Gagnadoux MF, Habib R, Broyer M. Niaudet P, et al. Among authors: fuchshuber a. Kidney Int Suppl. 1997 Mar;58:S85-90. Kidney Int Suppl. 1997. PMID: 9067953 Review.
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. Pediatr Nephrol. 1996 Apr;10(2):135-8. doi: 10.1007/BF00862052. Pediatr Nephrol. 1996. PMID: 8703694
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. 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: fuchshuber a. Am J Hum Genet. 1996 Mar;58(3):535-43. Am J Hum Genet. 1996. PMID: 8644713 Free PMC article.
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