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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: bockenhauer d. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
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: bockenhauer d. 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.
Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.
Oliveira B, Kleta R, Bockenhauer D, Walsh SB. Oliveira B, et al. Among authors: bockenhauer d. Am J Physiol Renal Physiol. 2016 Dec 1;311(6):F1243-F1252. doi: 10.1152/ajprenal.00211.2016. Epub 2016 Sep 7. Am J Physiol Renal Physiol. 2016. PMID: 27605580 Free article. Review.
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium. Viering D, et al. Among authors: bockenhauer d. J Am Soc Nephrol. 2022 Feb;33(2):305-325. doi: 10.1681/ASN.2021050596. Epub 2021 Oct 4. J Am Soc Nephrol. 2022. PMID: 34607911 Free PMC article.
Mitochondrial DNA mutations in renal disease: an overview.
Govers LP, Toka HR, Hariri A, Walsh SB, Bockenhauer D. Govers LP, et al. Among authors: bockenhauer d. Pediatr Nephrol. 2021 Jan;36(1):9-17. doi: 10.1007/s00467-019-04404-6. Epub 2020 Jan 10. Pediatr Nephrol. 2021. PMID: 31925537 Free PMC article. Review.
The pathophysiology of distal renal tubular acidosis.
Wagner CA, Unwin R, Lopez-Garcia SC, Kleta R, Bockenhauer D, Walsh S. Wagner CA, et al. Among authors: bockenhauer d. Nat Rev Nephrol. 2023 Jun;19(6):384-400. doi: 10.1038/s41581-023-00699-9. Epub 2023 Apr 4. Nat Rev Nephrol. 2023. PMID: 37016093 Review.
Genetic causes of hypomagnesemia, a clinical overview.
Viering DHHM, de Baaij JHF, Walsh SB, Kleta R, Bockenhauer D. Viering DHHM, et al. Among authors: bockenhauer d. Pediatr Nephrol. 2017 Jul;32(7):1123-1135. doi: 10.1007/s00467-016-3416-3. Epub 2016 May 27. Pediatr Nephrol. 2017. PMID: 27234911 Free PMC article. Review.
[No title available]
[No authors listed] [No authors listed] PMID: 35556292
Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.
Konrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G, Emma F, Schlingmann KP, Singh M, Trepiccione F, Walsh SB, Whitton K, Vargas-Poussou R, Bockenhauer D. Konrad M, et al. Among authors: bockenhauer d. Kidney Int. 2021 Feb;99(2):324-335. doi: 10.1016/j.kint.2020.10.035. Kidney Int. 2021. PMID: 33509356 Free article.
Fainting Fanconi syndrome clarified by proxy: a case report.
Walsh SB, Unwin R, Kleta R, Van't Hoff W, Bass P, Hussain K, Ellard S, Bockenhauer D. Walsh SB, et al. Among authors: bockenhauer d. BMC Nephrol. 2017 Jul 11;18(1):230. doi: 10.1186/s12882-017-0649-8. BMC Nephrol. 2017. PMID: 28693455 Free PMC article.
247 results