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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. Among authors: konrad m. 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.
Inherited disorders of renal hypomagnesaemia.
Konrad M, Schlingmann KP. Konrad M, et al. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv63-71. doi: 10.1093/ndt/gfu198. Nephrol Dial Transplant. 2014. PMID: 25165187 Review.
Genetics of hereditary disorders of magnesium homeostasis.
Schlingmann KP, Konrad M, Seyberth HW. Schlingmann KP, et al. Among authors: konrad m. 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.
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmüller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nürnberg P, Woolf AS. Weber S, et al. Among authors: konrad m. Am J Hum Genet. 2011 Nov 11;89(5):668-74. doi: 10.1016/j.ajhg.2011.10.007. Am J Hum Genet. 2011. PMID: 22077972 Free PMC article.
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG. Arjona FJ, et al. Among authors: konrad m. PLoS Genet. 2014 Apr 3;10(4):e1004267. doi: 10.1371/journal.pgen.1004267. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24699222 Free PMC article.
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
van der Wijst J, Konrad M, Verkaart SAJ, Tkaczyk M, Latta F, Altmüller J, Thiele H, Beck B, Schlingmann KP, de Baaij JHF. van der Wijst J, et al. Among authors: konrad m. Nephron. 2018;139(4):359-366. doi: 10.1159/000488954. Epub 2018 May 23. Nephron. 2018. PMID: 29791908 Free PMC article.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. Schlingmann KP, et al. Among authors: konrad m. J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. doi: 10.1681/ASN.2021030333. Epub 2021 Oct 4. J Am Soc Nephrol. 2021. PMID: 34607910 Free PMC article.
Autoimmune Renal Calcium and Magnesium Wasting.
Schlingmann KP, Konrad M. Schlingmann KP, et al. Among authors: konrad m. J Am Soc Nephrol. 2022 Jul;33(7):1231-1233. doi: 10.1681/ASN.2022050545. Epub 2022 Jun 21. J Am Soc Nephrol. 2022. PMID: 35728888 Free PMC article. No abstract available.
482 results