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Page 1
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Among authors: ortiz bruechle n. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
Direct prediction of Homologous Recombination Deficiency from routine histology in ten different tumor types with attention-based Multiple Instance Learning: a development and validation study.
Loeffler CML, El Nahhas OSM, Muti HS, Seibel T, Cifci D, van Treeck M, Gustav M, Carrero ZI, Gaisa NT, Lehmann KV, Leary A, Selenica P, Reis-Filho JS, Bruechle NO, Kather JN. Loeffler CML, et al. Among authors: bruechle no. medRxiv [Preprint]. 2023 Mar 10:2023.03.08.23286975. doi: 10.1101/2023.03.08.23286975. medRxiv. 2023. PMID: 36945540 Free PMC article. Preprint.
Comparative genomic profiling of glandular bladder tumours.
Maurer A, Ortiz-Bruechle N, Guricova K, Rose M, Morsch R, Garczyk S, Stöhr R, Bertz S, Golz R, Reis H, Bremmer F, Zimpfer A, Siegert S, Kristiansen G, Schwamborn K, Gassler N, Knuechel R, Gaisa NT; German study group of bladder cancer. Maurer A, et al. Among authors: ortiz bruechle n. Virchows Arch. 2020 Sep;477(3):445-454. doi: 10.1007/s00428-020-02787-8. Epub 2020 Mar 20. Virchows Arch. 2020. PMID: 32198650 Free PMC article.
Artificial Intelligence-based Detection of FGFR3 Mutational Status Directly from Routine Histology in Bladder Cancer: A Possible Preselection for Molecular Testing?
Loeffler CML, Ortiz Bruechle N, Jung M, Seillier L, Rose M, Laleh NG, Knuechel R, Brinker TJ, Trautwein C, Gaisa NT, Kather JN. Loeffler CML, et al. Among authors: ortiz bruechle n. Eur Urol Focus. 2022 Mar;8(2):472-479. doi: 10.1016/j.euf.2021.04.007. Epub 2021 Apr 22. Eur Urol Focus. 2022. PMID: 33895087 Free article.
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F. Schueler M, et al. Among authors: bruechle no. Am J Hum Genet. 2015 Jan 8;96(1):81-92. doi: 10.1016/j.ajhg.2014.12.002. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557784 Free PMC article.
Predicting Mutational Status of Driver and Suppressor Genes Directly from Histopathology With Deep Learning: A Systematic Study Across 23 Solid Tumor Types.
Loeffler CML, Gaisa NT, Muti HS, van Treeck M, Echle A, Ghaffari Laleh N, Trautwein C, Heij LR, Grabsch HI, Ortiz Bruechle N, Kather JN. Loeffler CML, et al. Among authors: ortiz bruechle n. Front Genet. 2022 Feb 16;12:806386. doi: 10.3389/fgene.2021.806386. eCollection 2021. Front Genet. 2022. PMID: 35251119 Free PMC article.
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Morin G, Bruechle NO, Singh AR, Knopp C, Jedraszak G, Elbracht M, Brémond-Gignac D, Hartmann K, Sevestre H, Deutz P, Hérent D, Nürnberg P, Roméo B, Konrad K, Mathieu-Dramard M, Oldenburg J, Bourges-Petit E, Shen Y, Zerres K, Ouadid-Ahidouch H, Rochette J. Morin G, et al. Among authors: bruechle no. Hum Mutat. 2014 Oct;35(10):1221-32. doi: 10.1002/humu.22621. Hum Mutat. 2014. PMID: 25044882
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.
Neumann HP, Jilg C, Bacher J, Nabulsi Z, Malinoc A, Hummel B, Hoffmann MM, Ortiz-Bruechle N, Glasker S, Pisarski P, Neeff H, Krämer-Guth A, Cybulla M, Hornberger M, Wilpert J, Funk L, Baumert J, Paatz D, Baumann D, Lahl M, Felten H, Hausberg M, Zerres K, Eng C; Else-Kroener-Fresenius-ADPKD-Registry. Neumann HP, et al. Among authors: ortiz bruechle n. Nephrol Dial Transplant. 2013 Jun;28(6):1472-87. doi: 10.1093/ndt/gfs551. Epub 2013 Jan 8. Nephrol Dial Transplant. 2013. PMID: 23300259