Fuchshuber A - Search Results

1

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):374-378. doi: 10.1681/ASN.V122374. J Am Soc Nephrol. 2001. PMID: 11158229

2

Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?

Dahan K, Fuchshuber A, Adamis S, Smaers M, Kroiss S, Loute G, Cosyns JP, Hildebrandt F, Verellen-Dumoulin C, Pirson Y. Dahan K, et al. Among authors: fuchshuber a. J Am Soc Nephrol. 2001 Nov;12(11):2348-2357. doi: 10.1681/ASN.V12112348. J Am Soc Nephrol. 2001. PMID: 11675411

3

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):388-393. doi: 10.1681/ASN.V132388. J Am Soc Nephrol. 2002. PMID: 11805166

4

Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p.

Ruf RG, Fuchshuber A, Karle SM, Lemainque A, Huck K, Wienker T, Otto E, Hildebrandt F. Ruf RG, et al. Among authors: fuchshuber a. J Am Soc Nephrol. 2003 Jul;14(7):1897-900. doi: 10.1097/01.asn.0000070070.03811.02. J Am Soc Nephrol. 2003. PMID: 12819251

5

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

6

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

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. Pediatr Nephrol. 1996 Apr;10(2):135-8. doi: 10.1007/BF00862052. Pediatr Nephrol. 1996. PMID: 8703694

8

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

9

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

10

Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.

Hildebrandt F, Nothwang HG, Vossmerbäumer U, Springer C, Strahm B, Hoppe B, Keuth B, Fuchshuber A, Querfeld U, Neuhaus TJ, Brandis M. Hildebrandt F, et al. Among authors: fuchshuber a. Pediatr Nephrol. 1998 Jan;12(1):16-9. doi: 10.1007/s004670050394. Pediatr Nephrol. 1998. PMID: 9502560

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