Hildebrandt F - Search Results

1

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: hildebrandt f. Pediatr Nephrol. 2004 Dec;19(12):1340-8. doi: 10.1007/s00467-004-1629-3. Pediatr Nephrol. 2004. PMID: 15338398 Free article.

2

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. Pediatr Nephrol. 1998 Jan;12(1):16-9. doi: 10.1007/s004670050394. Pediatr Nephrol. 1998. PMID: 9502560

3

A Bartter's syndrome mutation of ROMK1 exerts dominant negative effects on K(+) conductance.

Kunzelmann K, Hübner M, Vollmer M, Ruf R, Hildebrandt F, Greger R, Schreiber R. Kunzelmann K, et al. Among authors: hildebrandt f. Cell Physiol Biochem. 2000;10(3):117-24. doi: 10.1159/000016342. Cell Physiol Biochem. 2000. PMID: 10878442

4

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.

Konrad M, Vollmer M, Lemmink HH, VAN DEN Heuvel LPWJ, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NVAM, Seyberth HW, Feldmann D, Hildebrandt F. Konrad M, et al. Among authors: hildebrandt f. J Am Soc Nephrol. 2000 Aug;11(8):1449-1459. doi: 10.1681/ASN.V1181449. J Am Soc Nephrol. 2000. PMID: 10906158

5

mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.

Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F. Fuchshuber A, et al. Among authors: hildebrandt f. Hum Mutat. 2000 Aug;16(2):179. doi: 10.1002/1098-1004(200008)16:2<179::AID-HUMU17>3.0.CO;2-R. Hum Mutat. 2000. PMID: 10923046

6

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. Among authors: hildebrandt f. J Am Soc Nephrol. 2001 Feb;12(2):374-378. doi: 10.1681/ASN.V122374. J Am Soc Nephrol. 2001. PMID: 11158229

7

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: hildebrandt f. J Am Soc Nephrol. 2001 Nov;12(11):2348-2357. doi: 10.1681/ASN.V12112348. J Am Soc Nephrol. 2001. PMID: 11675411

8

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: hildebrandt f. J Am Soc Nephrol. 2002 Feb;13(2):388-393. doi: 10.1681/ASN.V132388. J Am Soc Nephrol. 2002. PMID: 11805166

9

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F. Otto E, et al. Among authors: hildebrandt f. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 Aug 29. Am J Hum Genet. 2002. PMID: 12205563 Free PMC article.

10

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.

Ruf R, Rensing C, Topaloglu R, Guay-Woodford L, Klein C, Vollmer M, Otto E, Beekmann F, Haller M, Wiedensohler A, Leumann E, Antignac C, Rizzoni G, Filler G, Brandis M, Weber JL, Hildebrandt F. Ruf R, et al. Among authors: hildebrandt f. Pediatr Nephrol. 2003 Feb;18(2):105-9. doi: 10.1007/s00467-002-1018-8. Epub 2002 Dec 18. Pediatr Nephrol. 2003. PMID: 12579397

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

454 results

Search Page