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Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M. Schlingmann KP, et al. Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004. Am J Hum Genet. 2018. PMID: 30388404 Free PMC article.
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: schlingmann kp. J Am Soc Nephrol. 2001 Dec;12(12):2664-2672. doi: 10.1681/ASN.V12122664. J Am Soc Nephrol. 2001. PMID: 11729235
Insights into the molecular nature of magnesium homeostasis.
Konrad M, Schlingmann KP, Gudermann T. Konrad M, et al. Among authors: schlingmann kp. Am J Physiol Renal Physiol. 2004 Apr;286(4):F599-605. doi: 10.1152/ajprenal.00312.2003. Am J Physiol Renal Physiol. 2004. PMID: 15001450 Free article. Review.
Salt handling in the distal nephron: lessons learned from inherited human disorders.
Jeck N, Schlingmann KP, Reinalter SC, Kömhoff M, Peters M, Waldegger S, Seyberth HW. Jeck N, et al. Among authors: schlingmann kp. Am J Physiol Regul Integr Comp Physiol. 2005 Apr;288(4):R782-95. doi: 10.1152/ajpregu.00600.2004. Am J Physiol Regul Integr Comp Physiol. 2005. PMID: 15793031 Free article. Review.
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.
Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DE, Metzger DL, Rahman S, Tajima T, Shu SG, Waldegger S, Seyberth HW, Konrad M. Schlingmann KP, et al. J Am Soc Nephrol. 2005 Oct;16(10):3061-9. doi: 10.1681/ASN.2004110989. Epub 2005 Aug 17. J Am Soc Nephrol. 2005. PMID: 16107578
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.
Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S. Konrad M, et al. Among authors: schlingmann kp. Am J Hum Genet. 2006 Nov;79(5):949-57. doi: 10.1086/508617. Epub 2006 Sep 19. Am J Hum Genet. 2006. PMID: 17033971 Free PMC article.
70 results