A. Fuchshuber

发表

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Corinne Antignac, K. Dahan, O. Gribouval, 2000, Nature Genetics.

Pneumococcal vaccine in children and young adults with chronic renal disease.

U. Querfeld, R. Lütticken, A. Fuchshuber, 1996, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

A. Bakkaloğlu, F. Hildebrandt, J. Haas, 2004, Kidney international.

Familial steroid-resistant nephrotic syndromes: recent advances.

O. Mehls, A. Fuchshuber, 2000, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

Joshua L. Deignan, P. D. De Deyn, S. Cederbaum, 2010, Molecular genetics and metabolism.

Haemodialysis and continuous veno-venous haemofiltration in a patient with hyperargininaemia and acute renal failure

P. Deyn, B. Roth, A. Fuchshuber, 1993, Journal of Inherited Metabolic Disease.

Telomeric refinement of the MCKD1 locus on chromosome 1q21.

H. Hennies, F. Hildebrandt, M. Wolf, 2004, Kidney international.

Five Patients with a Biotin-Responsive Defect in Holocarboxylase Formation: Evaluation of Responsiveness to Biotin Therapy in Vivo and Comparative Biochemical Studies in Vi1

T. Suormala, M. Durán, A. Fuchshuber, 1997, Pediatric Research.

Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.

F. Hildebrandt, A. Fuchshuber, B. Uetz, 2002, Journal of the American Society of Nephrology : JASN.

Novel Mutations in NPHS 2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome

F. Hildebrandt, A. Fuchshuber, B. Uetz, 2002 .

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

N. Rahman, F. Hildebrandt, M. Attanasio, 2003, Kidney international.

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

H. Hennies, F. Hildebrandt, M. Attanasio, 2006, Human Genetics.

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.

O. Gribouval, C. Antignac, P. Niaudet, 1996, American journal of human genetics.

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations

F. Hildebrandt, R. Wiggins, A. Fuchshuber, 2004, Pediatric Nephrology.

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

A. Bakkaloğlu, A. Bagga, F. Hildebrandt, 2004, Journal of the American Society of Nephrology : JASN.

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

F. Hildebrandt, A. Pierides, C. Deltas, 2001, Molecular and cellular probes.

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

K. Dahan, F. Hildebrandt, Y. Pirson, 2001, Journal of the American Society of Nephrology : JASN.

Holocarboxylase synthetase deficiency: Early diagnosis and management of a new case

T. Suormala, E. R. Baumgartner, M. Durán, 1993, European Journal of Pediatrics.

Levamisole treatment in steroid-sensitive and steroid-resistant nephrotic syndrome

U. Querfeld, K. Tenbrock, J. Müller-Berghaus, 1998, Pediatric Nephrology.

NPHS 2 , encoding the glomerular protein podocin , is mutated in autosomal recessive steroid-resistant nephrotic syndrome

K. Dahan, O. Gribouval, C. Antignac, 2000 .

Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population

O. Gribouval, C. Antignac, M. Gubler, 1996, Pediatric Nephrology.

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

A. Fuchshuber, R. Toder, E. Back, 2001, Clinical genetics.

A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2.

H. Hennies, F. Hildebrandt, M. Wolf, 2003, Journal of the American Society of Nephrology : JASN.

Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood.

O. Gribouval, F. Hildebrandt, M. Brandis, 2001, Journal of the American Society of Nephrology : JASN.

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

J. Beckmann, O. Gribouval, C. Antignac, 1995, Human molecular genetics.

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

T. Wienker, A. Lemainque, F. Hildebrandt, 2003, Journal of the American Society of Nephrology : JASN.

Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B

F. Hildebrandt, B. Hoppe, H. Nothwang, 1998, Pediatric Nephrology.

Aplasia of the cerebellar vermis associated with chronic renal disease

U. Querfeld, U. Alon, A. Fuchshuber, 1996, European Journal of Pediatrics.

Cyclosporine in the therapy of steroid-resistant idiopathic nephrotic syndrome.

P. Niaudet, M. Broyer, A. Fuchshuber, 1997, Kidney international. Supplement.

Acute peritoneal dialysis in preterm newborns and small infants: surgical management.

A. Fuchshuber, R. Huber, P. Huber, 1994, Journal of pediatric surgery.

Guanidino compounds in hyperargininaemia

E. Hirsch, M. Durán, S. Cederbaum, 1992 .

mut0 methylmalonic acidemia: Eleven novel mutations of the methylmalonyl CoA mutase including a deletion‐insertion mutation

E. R. Baumgartner, F. Hildebrandt, A. Fuchshuber, 2000, Human mutation.

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

M. Prelog, L. Zimmerhackl, A. Fuchshuber, 2007, Pediatric transplantation.

Hyperargininemia: a treatable inborn error of metabolism?

R. C. Green, A. Beaudet, E. Hirsch, 1997 .

Hyperorgininemia: a treatable inborn error of metabolism

Roth, A. Beaudet, S. Cederbaum, 1997 .

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.

N. Rahman, F. Hildebrandt, F. Rüschendorf, 2001, Genomics.

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

F. Hildebrandt, M. Wolf, E. Otto, 2003, Kidney international.

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease.

F. Scolari, G. Ghiggeri, G. Caridi, 2000, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity.

F. Hildebrandt, T. Feest, A. Pierides, 1998, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.