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498 results

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Page 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. J Am Soc Nephrol. 2000 Aug;11(8):1449-1459. doi: 10.1681/ASN.V1181449. J Am Soc Nephrol. 2000. PMID: 10906158
The diuretic- and Bartter-like salt-losing tubulopathies.
Jeck N, Konrad M, Hess M, Seyberth HW. Jeck N, et al. Among authors: konrad m. Nephrol Dial Transplant. 2000;15 Suppl 6:19-20. doi: 10.1093/ndt/15.suppl_6.19. Nephrol Dial Transplant. 2000. PMID: 11143975 No abstract available.
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F. Birkenhäger R, et al. Among authors: konrad m. Nat Genet. 2001 Nov;29(3):310-4. doi: 10.1038/ng752. Nat Genet. 2001. PMID: 11687798
Salt wasting and deafness resulting from mutations in two chloride channels.
Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S. Schlingmann KP, et al. Among authors: konrad m. N Engl J Med. 2004 Mar 25;350(13):1314-9. doi: 10.1056/NEJMoa032843. N Engl J Med. 2004. PMID: 15044642 Free article. No abstract available.
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.
Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel LP, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH, Deschênes G, Hildebrandt F, Seyberth HW, Guay-Woodford LM, Knoers NV, Antignac C. Vargas-Poussou R, et al. Among authors: konrad m. Am J Hum Genet. 1998 Jun;62(6):1332-40. doi: 10.1086/301872. Am J Hum Genet. 1998. PMID: 9585600 Free PMC article.
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene.
Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, Meij II, Knoers NV, Cochat P, Suláková T, Bonzel KE, Soergel M, Manz F, Schaerer K, Seyberth HW, Reis A, Konrad M. Weber S, et al. Among authors: konrad m. Eur J Hum Genet. 2000 Jun;8(6):414-22. doi: 10.1038/sj.ejhg.5200475. Eur J Hum Genet. 2000. PMID: 10878661
498 results