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Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD.
Kaufmann M, Gallagher JC, Peacock M, Schlingmann KP, Konrad M, DeLuca HF, Sigueiro R, Lopez B, Mourino A, Maestro M, St-Arnaud R, Finkelstein JS, Cooper DP, Jones G. Kaufmann M, et al. Among authors: konrad m. J Clin Endocrinol Metab. 2014 Jul;99(7):2567-74. doi: 10.1210/jc.2013-4388. Epub 2014 Mar 26. J Clin Endocrinol Metab. 2014. PMID: 24670084 Free PMC article.
Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Bröking E, Fehrenbach H, Wingen AM, Güran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M. Schlingmann KP, et al. Among authors: konrad m. N Engl J Med. 2011 Aug 4;365(5):410-21. doi: 10.1056/NEJMoa1103864. Epub 2011 Jun 15. N Engl J Med. 2011. PMID: 21675912 Free article.
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M. Schlingmann KP, et al. Among authors: konrad m. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5. J Am Soc Nephrol. 2016. PMID: 26047794 Free PMC article.
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Dasgupta D, et al. Among authors: konrad m. J Am Soc Nephrol. 2014 Oct;25(10):2366-75. doi: 10.1681/ASN.2013101085. Epub 2014 Apr 3. J Am Soc Nephrol. 2014. PMID: 24700880 Free PMC article.
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF. Franken GAC, et al. Among authors: konrad m. Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33600043 Free PMC article.
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M; NEOCYST consortium. König JC, et al. Among authors: konrad m. Kidney Int Rep. 2022 Jun 16;7(9):2016-2028. doi: 10.1016/j.ekir.2022.05.035. eCollection 2022 Sep. Kidney Int Rep. 2022. PMID: 36090483 Free PMC article.
Juvenile onset IIH and CYP24A1 mutations.
Schlingmann KP, Cassar W, Konrad M. Schlingmann KP, et al. Among authors: konrad m. Bone Rep. 2018 Jun 21;9:42-46. doi: 10.1016/j.bonr.2018.06.005. eCollection 2018 Dec. Bone Rep. 2018. PMID: 30591926 Free PMC article.
482 results