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Page 1
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
Christians A, Kesdiren E, Hennies I, Hofmann A, Trowe MO, Brand F, Martens H, Gjerstad AC, Gucev Z, Zirngibl M, Geffers R, Seeman T, Billing H, Bjerre A, Tasic V, Kispert A, Ure B, Haffner D, Dingemann J, Weber RG. Christians A, et al. Among authors: martens h. Hum Genet. 2023 Jan;142(1):73-88. doi: 10.1007/s00439-022-02481-6. Epub 2022 Sep 6. Hum Genet. 2023. PMID: 36066768 Free PMC article.
Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.
Kosfeld A, Brand F, Weiss AC, Kreuzer M, Goerk M, Martens H, Schubert S, Schäfer AK, Riehmer V, Hennies I, Bräsen JH, Pape L, Amann K, Krogvold L, Bjerre A, Daniel C, Kispert A, Haffner D, Weber RG. Kosfeld A, et al. Among authors: martens h. Hum Mol Genet. 2017 May 1;26(9):1716-1731. doi: 10.1093/hmg/ddx086. Hum Mol Genet. 2017. PMID: 28334964
Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.
Beyer U, Brand F, Martens H, Weder J, Christians A, Elyan N, Hentschel B, Westphal M, Schackert G, Pietsch T, Hong B, Krauss JK, Samii A, Raab P, Das A, Dumitru CA, Sandalcioglu IE, Hakenberg OW, Erbersdobler A, Lehmann U, Reifenberger G, Weller M, Reijns MAM, Preller M, Wiese B, Hartmann C, Weber RG. Beyer U, et al. Among authors: martens h. Acta Neuropathol. 2017 Dec;134(6):905-922. doi: 10.1007/s00401-017-1774-y. Epub 2017 Oct 13. Acta Neuropathol. 2017. PMID: 29030706 Free article.
Rare heterozygous GDF6 variants in patients with renal anomalies.
Martens H, Hennies I, Getwan M, Christians A, Weiss AC, Brand F, Gjerstad AC, Christians A, Gucev Z, Geffers R, Seeman T, Kispert A, Tasic V, Bjerre A, Lienkamp SS, Haffner D, Weber RG. Martens H, et al. Eur J Hum Genet. 2020 Dec;28(12):1681-1693. doi: 10.1038/s41431-020-0678-9. Epub 2020 Jul 31. Eur J Hum Genet. 2020. PMID: 32737436 Free PMC article.
Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.
Förster A, Brand F, Banan R, Hüneburg R, Weber CAM, Ewert W, Kronenberg J, Previti C, Elyan N, Beyer U, Martens H, Hong B, Bräsen JH, Erbersdobler A, Krauss JK, Stangel M, Samii A, Wolf S, Preller M, Aretz S, Wiese B, Hartmann C, Weber RG. Förster A, et al. Among authors: martens h. Acta Neuropathol. 2021 Jul;142(1):191-210. doi: 10.1007/s00401-021-02307-1. Epub 2021 Apr 30. Acta Neuropathol. 2021. PMID: 33929593 Free PMC article.
Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.
Werfel L, Martens H, Hennies I, Gjerstad AC, Fröde K, Altarescu G, Banerjee S, Valenzuela Palafoll I, Geffers R, Kirschstein M, Christians A, Bjerre A, Haffner D, Weber RG. Werfel L, et al. Among authors: martens h. Kidney Int Rep. 2023 Aug 14;8(11):2439-2457. doi: 10.1016/j.ekir.2023.08.008. eCollection 2023 Nov. Kidney Int Rep. 2023. PMID: 38025229 Free PMC article.
Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract.
Kesdiren E, Martens H, Brand F, Werfel L, Wedekind L, Trowe MO, Schmitz J, Hennies I, Geffers R, Gucev Z, Seeman T, Schmidt S, Tasic V, Fasano L, Bräsen JH, Kispert A, Christians A, Haffner D, Weber RG. Kesdiren E, et al. Among authors: martens h. Eur J Hum Genet. 2024 Oct 17. doi: 10.1038/s41431-024-01710-y. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39420202
Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c.
Brunkhorst M, Brunkhorst L, Martens H, Papizh S, Besouw M, Grasemann C, Turan S, Sikora P, Chromek M, Cornelissen E, Fila M, Lilien M, Allgrove J, Neuhaus TJ, Eltan M, Espinosa L, Schnabel D, Gokce I, González-Rodríguez JD, Khandelwal P, Keijzer-Veen MG, Lechner F, Szczepańska M, Zaniew M, Bacchetta J, Emma F, Haffner D. Brunkhorst M, et al. Among authors: martens h. Kidney Int. 2025 Jan;107(1):116-129. doi: 10.1016/j.kint.2024.08.035. Epub 2024 Oct 24. Kidney Int. 2025. PMID: 39461557 Free article.
495 results