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Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Weber S, Schneider L, Peters M, Misselwitz J, Rönnefarth G, Böswald M, Bonzel KE, Seeman T, Suláková T, Kuwertz-Bröking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Schärer K, Seyberth HW, Konrad M. Weber S, et al. Among authors: seyberth hw. J Am Soc Nephrol. 2001 Sep;12(9):1872-1881. doi: 10.1681/ASN.V1291872. J Am Soc Nephrol. 2001. PMID: 11518780
Primary gene structure and expression studies of rodent paracellin-1.
Weber S, Schlingmann KP, Peters M, Nejsum LN, Nielsen S, Engel H, Grzeschik KH, Seyberth HW, Gröne HJ, Nüsing R, Konrad M. Weber S, et al. Among authors: seyberth hw. J Am Soc Nephrol. 2001 Dec;12(12):2664-2672. doi: 10.1681/ASN.V12122664. J Am Soc Nephrol. 2001. PMID: 11729235
Genetics of hereditary disorders of magnesium homeostasis.
Schlingmann KP, Konrad M, Seyberth HW. Schlingmann KP, et al. Among authors: seyberth hw. Pediatr Nephrol. 2004 Jan;19(1):13-25. doi: 10.1007/s00467-003-1293-z. Epub 2003 Nov 22. Pediatr Nephrol. 2004. PMID: 14634861 Review.
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: seyberth hw. Eur J Hum Genet. 2000 Jun;8(6):414-22. doi: 10.1038/sj.ejhg.5200475. Eur J Hum Genet. 2000. PMID: 10878661
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: seyberth hw. 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.
210 results