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Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN). König J, et al. Among authors: schlingmann kp. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1974-1983. doi: 10.2215/CJN.01280217. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146700 Free PMC article.
Inherited disorders of renal hypomagnesaemia.
Konrad M, Schlingmann KP. Konrad M, et al. Among authors: schlingmann kp. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv63-71. doi: 10.1093/ndt/gfu198. Nephrol Dial Transplant. 2014. PMID: 25165187 Review.
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: schlingmann kp. 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.
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.
Viering DHHM, Hureaux M, Neveling K, Latta F, Kwint M, Blanchard A, Konrad M, Bindels RJM, Schlingmann KP, Vargas-Poussou R, de Baaij JHF. Viering DHHM, et al. Among authors: schlingmann kp. J Am Soc Nephrol. 2023 Feb 1;34(2):333-345. doi: 10.1681/ASN.2022050627. Epub 2022 Nov 9. J Am Soc Nephrol. 2023. PMID: 36302598 Free PMC article.
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
Sikora P, Zaniew M, Haisch L, Pulcer B, Szczepańska M, Moczulska A, Rogowska-Kalisz A, Bieniaś B, Tkaczyk M, Ostalska-Nowicka D, Zachwieja K, Hyla-Klekot L, Schlingmann KP, Konrad M. Sikora P, et al. Among authors: schlingmann kp. Nephrol Dial Transplant. 2015 Apr;30(4):636-44. doi: 10.1093/ndt/gfu374. Epub 2014 Dec 3. Nephrol Dial Transplant. 2015. PMID: 25477417
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.
Weber S, Mir S, Schlingmann KP, Nürnberg G, Becker C, Kara PE, Ozkayin N, Konrad M, Nürnberg P, Schaefer F. Weber S, et al. Among authors: schlingmann kp. Pediatr Nephrol. 2005 Aug;20(8):1036-42. doi: 10.1007/s00467-005-1977-7. Epub 2005 May 24. Pediatr Nephrol. 2005. PMID: 15912376
68 results