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Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M. Laghmani K, et al. Among authors: komhoff m. N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27. N Engl J Med. 2016. PMID: 27120771 Free article.
Bartter's and Gitelman's syndrome.
Seyberth HW, Weber S, Kömhoff M. Seyberth HW, et al. Among authors: komhoff m. Curr Opin Pediatr. 2017 Apr;29(2):179-186. doi: 10.1097/MOP.0000000000000447. Curr Opin Pediatr. 2017. PMID: 27906863 Review.
Pathophysiology of antenatal Bartter's syndrome.
Kömhoff M, Laghmani K. Kömhoff M, et al. Curr Opin Nephrol Hypertens. 2017 Sep;26(5):419-425. doi: 10.1097/MNH.0000000000000346. Curr Opin Nephrol Hypertens. 2017. PMID: 28598867 Review.
Disease modeling in genetic kidney diseases: mice.
Hofmeister AF, Kömhoff M, Weber S, Grgic I. Hofmeister AF, et al. Among authors: komhoff m. Cell Tissue Res. 2017 Jul;369(1):159-170. doi: 10.1007/s00441-017-2639-3. Epub 2017 Jun 10. Cell Tissue Res. 2017. PMID: 28601904 Review.
MAGED2: a novel form of antenatal Bartter's syndrome.
Kömhoff M, Laghmani K. Kömhoff M, et al. Curr Opin Nephrol Hypertens. 2018 Jul;27(4):323-328. doi: 10.1097/MNH.0000000000000422. Curr Opin Nephrol Hypertens. 2018. PMID: 29677005 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: komhoff m. 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.
56 results