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Items: 1 to 20 of 38


Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia.

Deignan JL, De Deyn PP, Cederbaum SD, Fuchshuber A, Roth B, Gsell W, Marescau B.

Mol Genet Metab. 2010;100 Suppl 1:S31-6. doi: 10.1016/j.ymgme.2010.01.012. Epub 2010 Jan 29.


Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

Heeringa SF, Vlangos CN, Chernin G, Hinkes B, Gbadegesin R, Liu J, Hoskins BE, Ozaltin F, Hildebrandt F; Members of the APN Study Group.

Nephrol Dial Transplant. 2008 Nov;23(11):3527-33. doi: 10.1093/ndt/gfn271. Epub 2008 May 23.


Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie.

Plank C, Kalb V, Hinkes B, Hildebrandt F, Gefeller O, Rascher W; Arbeitsgemeinschaft für Pädiatrische Nephrologie.

Pediatr Nephrol. 2008 Sep;23(9):1483-93. doi: 10.1007/s00467-008-0794-1. Epub 2008 May 15.


Demand for evaluation of vaccination antibody titers in children considered for renal transplantation.

Prelog M, Pohl M, Ermisch B, Fuchshuber A, Huzly D, Jungraithmayr T, Forster J, Zimmerhackl LB.

Pediatr Transplant. 2007 Feb;11(1):73-6.


Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.

Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto EA, Deltas CC, Fuchshuber A, Hildebrandt F.

Hum Genet. 2006 Jul;119(6):649-58. Epub 2006 Apr 26.


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.

Pediatr Nephrol. 2004 Dec;19(12):1340-8.


Telomeric refinement of the MCKD1 locus on chromosome 1q21.

Wolf MT, van Vlem B, Hennies HC, Zalewski I, Karle SM, Puetz M, Panther F, Otto E, Fuchshuber A, Lameire N, Loeys B, Hildebrandt F.

Kidney Int. 2004 Aug;66(2):580-5.


Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.

Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F; APN Study Group.

Kidney Int. 2004 Aug;66(2):564-70.


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.

J Am Soc Nephrol. 2004 Mar;15(3):722-32.


Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

Wolf MT, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HP, Rahman N, Bader B, Baldamus CA, Otto E, Witzgall R, Fuchshuber A, Hildebrandt F.

Kidney Int. 2003 Nov;64(5):1580-7.


Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing.

Wolf MT, Karle SM, Schwarz S, Anlauf M, Anlauf M, Glaeser L, Kroiss S, Burton C, Feest T, Otto E, Fuchshuber A, Hildebrandt F.

Kidney Int. 2003 Sep;64(3):788-92.


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.

J Am Soc Nephrol. 2003 Jul;14(7):1897-900.


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.

J Am Soc Nephrol. 2003 Jun;14(6):1519-22.


Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.

Koptides M, Mean R, Stavrou C, Pierides A, Demetriou K, Nakayama T, Hildebrandt F, Fuchshuber A, Deltas CC.

Mol Cell Probes. 2001 Dec;15(6):357-61.


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.

J Am Soc Nephrol. 2002 Feb;13(2):388-93.


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.

J Am Soc Nephrol. 2001 Nov;12(11):2348-57.


De novo inverted duplication of chromosome 7(q21.3-->q35): cytogenetic diagnosis confirmed by FISH analysis.

Back E, Toder R, Fuchshuber A.

Clin Genet. 2001 Jul;60(1):77-82. Review.


Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.

Fuchshuber A, Kroiss S, Karle S, Berthold S, Huck K, Burton C, Rahman N, Koptides M, Deltas C, Otto E, Rüschendorf F, Feest T, Hildebrandt F.

Genomics. 2001 Mar 15;72(3):278-84.


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.

J Am Soc Nephrol. 2001 Feb;12(2):374-8.


Familial steroid-resistant nephrotic syndromes: recent advances.

Fuchshuber A, Mehls O.

Nephrol Dial Transplant. 2000 Dec;15(12):1897-900. Review. No abstract available.


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