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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: brasen jh. 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.
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
Kosfeld A, Kreuzer M, Daniel C, Brand F, Schäfer AK, Chadt A, Weiss AC, Riehmer V, Jeanpierre C, Klintschar M, Bräsen JH, Amann K, Pape L, Kispert A, Al-Hasani H, Haffner D, Weber RG. Kosfeld A, et al. Among authors: brasen jh. Hum Genet. 2016 Jan;135(1):69-87. doi: 10.1007/s00439-015-1610-1. Epub 2015 Nov 16. Hum Genet. 2016. PMID: 26572137
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: brasen jh. Hum Mol Genet. 2017 May 1;26(9):1716-1731. doi: 10.1093/hmg/ddx086. Hum Mol Genet. 2017. PMID: 28334964
Amyloidogenicity assessment of transthyretin gene variants.
Grether NB, Napravnik F, Imhof T, Linke RP, Bräsen JH, Schmitz J, Dohrn M, Schneider C, Svačina MKR, Stetefeld J, Koch M, Lehmann HC. Grether NB, et al. Among authors: brasen jh. Ann Clin Transl Neurol. 2022 Aug;9(8):1252-1263. doi: 10.1002/acn3.51626. Epub 2022 Jul 29. Ann Clin Transl Neurol. 2022. PMID: 35903975 Free PMC article.
The role of protocol biopsies after pediatric kidney transplantation.
Kanzelmeyer NK, Lerch C, Ahlenstiel-Grunow T, Bräsen JH, Haffner D, Pape L. Kanzelmeyer NK, et al. Among authors: brasen jh. Medicine (Baltimore). 2020 Jun 5;99(23):e20522. doi: 10.1097/MD.0000000000020522. Medicine (Baltimore). 2020. PMID: 32502003 Free PMC article.
[Rapid Progressive Glomerulonephritis in Children].
Mayer U, Bräsen JH, Pape L. Mayer U, et al. Among authors: brasen jh. Klin Padiatr. 2019 Jan;231(1):4-13. doi: 10.1055/a-0669-9271. Epub 2018 Sep 25. Klin Padiatr. 2019. PMID: 30253423 Review. German.
Crescentic glomerulonephritis in children.
Mayer U, Schmitz J, Bräsen JH, Pape L. Mayer U, et al. Among authors: brasen jh. Pediatr Nephrol. 2020 May;35(5):829-842. doi: 10.1007/s00467-019-04436-y. Epub 2020 Feb 12. Pediatr Nephrol. 2020. PMID: 32052153 Free PMC article.
149 results