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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int. 2022 May;101(5):1039-1053. doi: 10.1016/j.kint.2022.01.028. Epub 2022 Feb 26.
Kidney Int. 2022.
PMID: 35227688
Free PMC article.
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.
Schönauer R, Jin W, Ertel A, Nemitz-Kliemchen M, Panitz N, Hantmann E, Seidel A, Braun DA, Shril S, Hansen M, Shahzad K, Sandford R, Saunier S, Benmerah A, Bergmann C, Hildebrandt F, Halbritter J.
Schönauer R, et al. Among authors: hantmann e.
Kidney Int. 2020 Oct;98(4):958-969. doi: 10.1016/j.kint.2020.05.027. Epub 2020 Jun 4.
Kidney Int. 2020.
PMID: 32505465
Free PMC article.
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Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia.
Petzold F, Jin W, Hantmann E, Korbach K, Schönauer R, Halbritter J.
Petzold F, et al. Among authors: hantmann e.
Clin Kidney J. 2022 Apr 6;15(7):1333-1339. doi: 10.1093/ckj/sfac092. eCollection 2022 Jul.
Clin Kidney J. 2022.
PMID: 35756743
Free PMC article.
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Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability.
Schönauer R, Scherer L, Nemitz-Kliemchen M, Hagemann T, Hantmann E, Seidel A, Müller L, Kehr S, Voigt C, Stolzenburg JU, Halbritter J.
Schönauer R, et al. Among authors: hantmann e.
Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):279-288. doi: 10.1002/ajmg.c.31991. Epub 2022 Aug 3.
Am J Med Genet C Semin Med Genet. 2022.
PMID: 35923129
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Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
Sierks D, Schönauer R, Friedrich A, Hantmann E, de Fallois J, Linder N, Fischer J, Herber A, Bergmann C, Berg T, Halbritter J.
Sierks D, et al. Among authors: hantmann e.
JHEP Rep. 2022 Sep 8;4(11):100579. doi: 10.1016/j.jhepr.2022.100579. eCollection 2022 Nov.
JHEP Rep. 2022.
PMID: 36246085
Free PMC article.
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Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J.
Schönauer R, et al. Among authors: hantmann e.
Am J Hum Genet. 2023 Jun 1;110(6):998-1007. doi: 10.1016/j.ajhg.2023.04.010. Epub 2023 May 18.
Am J Hum Genet. 2023.
PMID: 37207645
Free PMC article.
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Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery.
Scherer L, Schönauer R, Nemitz-Kliemchen M, Hagemann T, Hantmann E, de Fallois J, Petzold F, Blüher M, Halbritter J.
Scherer L, et al. Among authors: hantmann e.
Sci Rep. 2023 Jun 3;13(1):9029. doi: 10.1038/s41598-023-35941-8.
Sci Rep. 2023.
PMID: 37270618
Free PMC article.
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