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[No title available]
[No authors listed] [No authors listed] PMID: 32337584
An outbreak of Shiga toxin-producing Escherichia coli O104:H4 hemolytic uremic syndrome in Germany: presentation and short-term outcome in children.
Loos S, Ahlenstiel T, Kranz B, Staude H, Pape L, Härtel C, Vester U, Buchtala L, Benz K, Hoppe B, Beringer O, Krause M, Müller D, Pohl M, Lemke J, Hillebrand G, Kreuzer M, König J, Wigger M, Konrad M, Haffner D, Oh J, Kemper MJ. Loos S, et al. Clin Infect Dis. 2012 Sep;55(6):753-9. doi: 10.1093/cid/cis531. Epub 2012 Jun 5. Clin Infect Dis. 2012. PMID: 22670043
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. 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.
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.
Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F. Gimpel C, et al. Nat Rev Nephrol. 2019 Nov;15(11):713-726. doi: 10.1038/s41581-019-0155-2. Nat Rev Nephrol. 2019. PMID: 31118499 Free PMC article.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K; Genomics England Research Consortium; Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grünewald I, Konrad M, König J, Schlevogt B, Sayer JA, Bergmann C. Devane J, et al. Am J Hum Genet. 2022 May 5;109(5):928-943. doi: 10.1016/j.ajhg.2022.03.015. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397207 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. 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.
52 results