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Arno Fuchshuber

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Matthias T F Wolf; Bettina Mucha; Hans Christian Hennies; Massimo Attanasio; Franziska Panther; Isabella Zalewski; Stephanie M Karle; Edgar Otto; C Constantinou Deltas; Arno Fuchshuber; Friedhelm Hildebrandt
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
Michael Schultheiss; Rainer G Ruf; Bettina Mucha; Roger C Wiggins; Arno Fuchshuber; Anne Lichtenberger; Friedhelm Hildebrandt
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.
Matthias T F Wolf; Bruno van Vlem; Hans Christian Hennies; Isabella Zalewski; Stephanie M Karle; Markus Puetz; Franziska Panther; Edgar Otto; Arno Fuchshuber; Norbert Lameire; Bart Loeys; Friedhelm Hildebrandt
Telomeric refinement of the MCKD1 locus on chromosome 1q21.

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All Publications

2006: Matthias T F Wolf; Bettina Mucha; Hans Christian Hennies; Massimo Attanasio; Franziska Panther; Isabella Zalewski; Stephanie M Karle; Edgar Otto; C Constantinou Deltas; Arno Fuchshuber; Friedhelm Hildebrandt
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
Human genetics 2006;119(6):649-58.
2004: Michael Schultheiss; Rainer G Ruf; Bettina Mucha; Roger C Wiggins; Arno Fuchshuber; Anne Lichtenberger; Friedhelm Hildebrandt
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.
Pediatric nephrology (Berlin, Germany) 2004;19(12):1340-8.
2004: Matthias T F Wolf; Bruno van Vlem; Hans Christian Hennies; Isabella Zalewski; Stephanie M Karle; Markus Puetz; Franziska Panther; Edgar Otto; Arno Fuchshuber; Norbert Lameire; Bart Loeys; Friedhelm Hildebrandt
Telomeric refinement of the MCKD1 locus on chromosome 1q21.
Kidney international 2004;66(2):580-5.
2004: Rainer G Ruf; Michael Schultheiss; Anne Lichtenberger; Stephanie M Karle; Isabella Zalewski; Bettina Mucha; Anne Schulze Everding; Thomas Neuhaus; Ludwig Patzer; Christian Plank; Johannes P Haas; Fatih Ozaltin; Anita Imm; Arno Fuchshuber; Aysin Bakkaloglu; Friedhelm Hildebrandt
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.
Kidney international 2004;66(2):564-70.
2004: Rainer G Ruf; Anne Lichtenberger; Stephanie M Karle; Johannes P Haas; Franzisco E Anacleto; Michael Schultheiss; Isabella Zalewski; Anita Imm; Eva-Maria Ruf; Bettina Mucha; Arvind Bagga; Thomas Neuhaus; Arno Fuchshuber; Aysin Bakkaloglu; Friedhelm Hildebrandt
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
Journal of the American Society of Nephrology : JASN 2004;15(3):722-32.
2003: Matthias T F Wolf; Bettina Mucha; Massimo Attanasio; Isabella Zalewski; Stephanie M Karle; Hartmut P H Neumann; Nazneen Rahman; Birgit Bader; Conrad A Baldamus; Edgar Otto; Ralph Witzgall; Arno Fuchshuber; Friedhelm Hildebrandt
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
Kidney international 2003;64(5):1580-7.
2003: Matthias T F Wolf; Stephanie M Karle; Stella Schwarz; Manfred Anlauf; Manfred Anlauf; Lisa Glaeser; Sabine Kroiss; Chris Burton; Terry Feest; Edgar Otto; Arno Fuchshuber; Friedhelm Hildebrandt
Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing.
Kidney international 2003;64(3):788-92.
2003: Rainer G Ruf; Arno Fuchshuber; Stephanie M Karle; Arnaud Lemainque; Kirsten Huck; Thomas F Wienker; Edgar Otto; Friedhelm Hildebrandt
Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p.
Journal of the American Society of Nephrology : JASN 2003;14(7):1897-900.
2003: Rainer G Ruf; Matthias T F Wolf; Hans Christian Hennies; Barbara Lucke; Christina Zinn; Verena Varnholt; Anne Lichtenberger; Andreas Pasch; Anita Imm; Sonia Briese; Thomas Lennert; Arno Fuchshuber; Peter Nurnberg; Friedhelm Hildebrandt
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2.
Journal of the American Society of Nephrology : JASN 2003;14(6):1519-22.
2002: Stephanie M Karle; Barbara Uetz; Vera Ronner; Lisa Glaeser; Friedhelm Hildebrandt; Arno Fuchshuber
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
Journal of the American Society of Nephrology : JASN 2002;13(2):388-93.
2001: Michael Koptides; Richard Mean; Christoforos Stavrou; Alkis Pierides; Kyproula Demetriou; T Nakayama; Friedhelm Hildebrandt; Arno Fuchshuber; C Constantinou Deltas
Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.
Molecular and cellular probes 2001;15(6):357-61.
2001: Karin Dahan; Arno Fuchshuber; S Adamis; Michèle Smaers; Sabine Kroiss; Guy Loute; Jean-Pierre Cosyns; Friedhelm Hildebrandt; Christine Verellen-Dumoulin; Yves Pirson
Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?
Journal of the American Society of Nephrology : JASN 2001;12(11):2348-57.
2001: Arno Fuchshuber; Sabine Kroiss; Stephanie M Karle; S Berthold; Kirsten Huck; C Burton; Nazneen Rahman; Michael Koptides; C Constantinou Deltas; Edgar Otto; Franz Rüschendorf; Terry Feest; Friedhelm Hildebrandt
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.
Genomics 2001;72(3):278-84.
2001: Arno Fuchshuber; Olivier Gribouval; V Ronner; Sabine Kroiss; Stephanie M Karle; Matthias Brandis; Friedhelm Hildebrandt
Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood.
Journal of the American Society of Nephrology : JASN 2001;12(2):374-8.
2000: Arno Fuchshuber; Bettina Mucha; E R Baumgartner; M Vollmer; Friedhelm Hildebrandt
mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
Human mutation 2000;16(2):179.
2000: Sabine Kroiss; Kirsten Huck; S Berthold; Franz Rüschendorf; F Scolari; Gianluca Caridi; G M Ghiggeri; Friedhelm Hildebrandt; Arno Fuchshuber
Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2000;15(6):818-21.
2000: Nicolas Boute; Olivier Gribouval; Séverine Roselli; France Benessy; H Lee; Arno Fuchshuber; Karin Dahan; Marie-Claire Gubler; Patrick Niaudet; Corinne Antignac
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Nature genetics 2000;24(4):349-54.
1998: K Tenbrock; Jan Muller-Berghaus; Arno Fuchshuber; Dietrich V Michalk; Uwe Querfeld
Levamisole treatment in steroid-sensitive and steroid-resistant nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 1998;12(6):459-62.
1998: Arno Fuchshuber; C Constantinou Deltas; S Berthold; Christoforos Stavrou; Martin Vollmer; C Burton; Terry Feest; D Krieter; A Gal; Matthias Brandis; Alkis Pierides; Friedhelm Hildebrandt
Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1998;13(8):1955-7.
1998: Friedhelm Hildebrandt; Hans Gerd Nothwang; U Vossmerbäumer; C Springer; Brigitte Strahm; B Hoppe; B Keuth; Arno Fuchshuber; Uwe Querfeld; T J Neuhaus; Matthias Brandis
Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.
Pediatric nephrology (Berlin, Germany) 1998;12(1):16-9.
1997: Patrick Niaudet; Arno Fuchshuber; M F Gagnadoux; R Habib; M Broyer
Cyclosporine in the therapy of steroid-resistant idiopathic nephrotic syndrome.
Kidney international. Supplement 1997;58():S85-90.
1997: O Kühnemund; A Stütz; Arno Fuchshuber; Uwe Querfeld; S Petrasch; Ralf Rene Reinert; Rudolf Lütticken
Immune response to the 23-valent pneumococcal polysaccharide vaccine in lymphoma patients and patients with chronic renal diseases.
Advances in experimental medicine and biology 1997;418():837-9.
1996: B Keuth; U Alon; Arno Fuchshuber; Dietrich V Michalk; Uwe Querfeld
Aplasia of the cerebellar vermis associated with chronic renal disease. A report of six cases and a review of the literature.
European journal of pediatrics 1996;155(11):963-7.
1996: Arno Fuchshuber; O Kühnemund; B Keuth; Rudolf Lütticken; Dietrich V Michalk; Uwe Querfeld
Pneumococcal vaccine in children and young adults with chronic renal disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1996;11(3):468-73.
1993: Arno Fuchshuber; Terttu Suormala; Bernhard Roth; M Duran; Dietrich V Michalk; E Regula Baumgartner
Holocarboxylase synthetase deficiency: early diagnosis and management of a new case.
European journal of pediatrics 1993;152(5):446-9.
1993: Arno Fuchshuber; L B Marescau; Bernhard Roth; P P De Deyn; H J Sprenger; Dietrich V Michalk
Haemodialysis and continuous veno-venous haemofiltration in a patient with hyperargininaemia and acute renal failure.
Journal of inherited metabolic disease 1993;16(5):909-10.