Ruf R - Search Results

1

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: ruf r. J Am Soc Nephrol. 2000 Aug;11(8):1449-1459. doi: 10.1681/ASN.V1181449. J Am Soc Nephrol. 2000. PMID: 10906158

2

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. 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

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: ruf r. Cell Physiol Biochem. 2000;10(3):117-24. doi: 10.1159/000016342. Cell Physiol Biochem. 2000. PMID: 10878442

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. 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

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. Pediatr Nephrol. 2003 Feb;18(2):105-9. doi: 10.1007/s00467-002-1018-8. Epub 2002 Dec 18. Pediatr Nephrol. 2003. PMID: 12579397

6

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. 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

7

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

8

The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster.

Vollmer M, Jung M, Rüschendorf F, Ruf R, Wienker T, Reis A, Krapf R, Hildebrandt F. Vollmer M, et al. Among authors: ruf r. Am J Hum Genet. 1998 Dec;63(6):1724-31. doi: 10.1086/302162. Am J Hum Genet. 1998. PMID: 9837825 Free PMC article.

9

Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes.

Vollmer M, Kremer M, Ruf R, Miot S, Nothwang HG, Wirth J, Otto E, Krapf R, Hildebrandt F. Vollmer M, et al. Among authors: ruf r. Genomics. 2000 Sep 1;68(2):127-35. doi: 10.1006/geno.2000.6292. Genomics. 2000. PMID: 10964510

10

Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.

Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins BE, Everding AS, Bogdanovic R, Seeman T, Hoppe B, Hildebrandt F; Members of the APN Study Group. Mucha B, et al. Among authors: ruf rg. Pediatr Res. 2006 Feb;59(2):325-31. doi: 10.1203/01.pdr.0000196717.94518.f0. Pediatr Res. 2006. PMID: 16439601

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

43 results

Search Page