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Page 1
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.
Daenen M, Hureaux M, Ashton E, Becherucci F, Barry I, Benz M, Bjerre A, Buckton A, Caswell R, Duff-Farrier C, Hayward S, Mcallister J, Moczulska A, Palazzo V, Platt C, Prajapati H, Saleem M, Schlingmann KP, Telma F, Zaniew M, Emma F, Bockenhauer D. Daenen M, et al. Among authors: schlingmann kp. Nephrol Dial Transplant. 2025 Jan 21:gfaf016. doi: 10.1093/ndt/gfaf016. Online ahead of print. Nephrol Dial Transplant. 2025. PMID: 39837581
Health-related quality of life of children with X-linked hypophosphatemia in Germany.
Klein M, Obermaier M, Mutze H, Wilden SM, Rehberg M, Schlingmann KP, Schmidt D, Metzing O, Hübner A, Richter-Unruh A, Kemper MJ, Weitz M, Wühl E, Jorch N, Patzer L, Freiberg C, Heger S, Ziviknjak M, Schnabel D, Haffner D; German Society for Pediatric Nephrology (GPN) and the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED). Klein M, et al. Among authors: schlingmann kp. Pediatr Nephrol. 2024 Nov;39(11):3221-3231. doi: 10.1007/s00467-024-06427-0. Epub 2024 Jun 25. Pediatr Nephrol. 2024. PMID: 38914781 Free PMC article.
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J. Tschernoster N, et al. Among authors: schlingmann kp. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia.
Ewert A, Rehberg M, Schlingmann KP, Hiort O, John-Kroegel U, Metzing O, Wühl E, Schaefer F, Kemper MJ, Derichs U, Richter-Unruh A, Patzer L, Albers N, Dunstheimer D, Haberland H, Heger S, Schröder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D. Ewert A, et al. Among authors: schlingmann kp. J Clin Endocrinol Metab. 2023 Sep 18;108(10):e998-e1006. doi: 10.1210/clinem/dgad223. J Clin Endocrinol Metab. 2023. PMID: 37097907
Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review.
Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF. Schigt H, et al. Among authors: schlingmann kp. J Clin Endocrinol Metab. 2023 Jun 16;108(7):e501. doi: 10.1210/clinem/dgad154. J Clin Endocrinol Metab. 2023. PMID: 36919775 Free PMC article.
Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF. Schigt H, et al. Among authors: schlingmann kp. J Clin Endocrinol Metab. 2023 Aug 18;108(9):e754-e768. doi: 10.1210/clinem/dgad147. J Clin Endocrinol Metab. 2023. PMID: 36916904 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.
Comment to "Recommendation on an updated standardization of serum magnesium reference ranges".
de Baaij JHF, Bockenhauer D, Claverie-Martin F, Hoenderop JGJ, Hoorn EJ, Houillier P, Knoers NVAM, Konrad M, Müller D, Nijenhuis T, Schlingmann KP, Vargas Poussou R. de Baaij JHF, et al. Among authors: schlingmann kp. Eur J Nutr. 2022 Dec;61(8):4231-4233. doi: 10.1007/s00394-022-03004-9. Epub 2022 Sep 27. Eur J Nutr. 2022. PMID: 36168067 No abstract available.
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.
The genetic spectrum of Gitelman(-like) syndromes.
Schlingmann KP, de Baaij JHF. Schlingmann KP, et al. Curr Opin Nephrol Hypertens. 2022 Sep 1;31(5):508-515. doi: 10.1097/MNH.0000000000000818. Epub 2022 Jul 11. Curr Opin Nephrol Hypertens. 2022. PMID: 35894287 Free PMC article. Review.
70 results