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801 results

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Page 1
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Among authors: horvath j. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free article.
Mitochondrial DNA mutations in Medulloblastoma.
Funke VLE, Sandmann S, Melcher V, Seggewiss J, Horvath J, Jäger N, Kool M, Jones DTW, Pfister SM, Milde T, Rutkowski S, Mynarek M, Varghese J, Sträter R, Rust S, Seelhöfer A, Reunert J, Fiedler B, Schüller U, Marquardt T, Kerl K. Funke VLE, et al. Among authors: horvath j. Acta Neuropathol Commun. 2023 Jul 27;11(1):124. doi: 10.1186/s40478-023-01602-0. Acta Neuropathol Commun. 2023. PMID: 37501103 Free PMC article.
Childhood, adolescent and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.
Li S, Madanat-Harjuoja L, Leslie G, Barnes DR, Bolla MK, Dennis J, Parsons MT, Apostolou P, Arnold N, Bosse K, On Behalf Of Embrace Collaborators ACA, Cook J, Engel C, Evans DG, Fostira F, Frone MN, Gehrig A, Greene MH, Hackmann K, Hahnen E, Harbeck N, Hauke J, Hentschel J, Horvath J, Izatt L, Kiechle M, Konstantopoulou I, Lalloo F, Yie JNY, Niederacher D, Ritter J, Santamariña M, Schmutzler RK, Searle C, Sutter C, Tischkowitz M, Tripathi V, Vega A, Wallaschek H, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Zhao E, Easton DF, Antoniou AC, Chenevix-Trench G, Rebbeck TR, Diller LR. Li S, et al. Among authors: horvath j. J Natl Cancer Inst. 2024 Nov 25:djae306. doi: 10.1093/jnci/djae306. Online ahead of print. J Natl Cancer Inst. 2024. PMID: 39585318
Calculating future 10-year breast cancer risks in risk-adapted surveillance: A method comparison and application in clinical practice.
Zachariae S, Quante AS, Kiechle M, Rhiem K, Fehm TN, Schröder JG, Horvath J, Leinert E, Dikow N, Ronez J, Schönfeld M, van Mackelenbergh MT, Schatz UA, Meisel C, Aktas B, Witt D, Mehraein Y, Weber BHF, Solbach C, Speiser D, Hoyer J, Faigle-Krehl G, Much CD, Mueller-Rausch AV, Villavicencio-Lorini P, Banys-Paluchowski M, Pieh D, Schmutzler RK, Fischer C, Engel C. Zachariae S, et al. Among authors: horvath j. Cancer Prev Res (Phila). 2024 Nov 22. doi: 10.1158/1940-6207.CAPR-24-0328. Online ahead of print. Cancer Prev Res (Phila). 2024. PMID: 39575650
Catalytic inhibition of KAT6/KAT7 enhances the efficacy and overcomes primary and acquired resistance to Menin inhibitors in MLL leukaemia.
Gordon SJV, Perner F, MacPherson L, Wenge DV, Bourgeois W, Fennell K, Klaus T, Petrovic J, Horvath J, Cao J, Lapek J, Uryu S, White J, Lam EYN, Mu XJ, Chan YC, Gillespie A, Blyth B, Camerino MA, Bozikis YE, Holze H, Knezevic K, Balic J, Stupple PA, Street IP, Monahan BJ, Sharma S, Wainwright EN, Vassiliadis D, Paul TA, Armstrong SA, Dawson MA. Gordon SJV, et al. Among authors: horvath j. bioRxiv [Preprint]. 2024 Dec 12:2024.12.11.627663. doi: 10.1101/2024.12.11.627663. bioRxiv. 2024. PMID: 39713447 Free PMC article. Preprint.
Seven versus 14 days of antimicrobial therapy for severe multidrug-resistant Gram-negative bacterial infections in intensive care unit patients (OPTIMISE): a randomised, open-label, non-inferiority clinical trial.
Arns B, Kalil AC, Sorio GGL, Boschi E, Antonio ACP, Antonio JP, Birriel DC, Lanziotti DH, da Cunha Abbott F, Rocha GC, de Fátima Fernandes V, de Souza Dantas VC, da Silva Medeiros GF, de França Diniz Rocha V, Pereira FC, Gobatto ALN, Lima VP, Lacerda FH, de Maio Carrilho CMD, de Oliveira Cardozo KDN, Irineu VM, Kurtz P, Horvath JDC, Sesin GP, Agani CAJO, Dos Santos TM, Brochier LSB, da Rosa BS, Tomazini BM, Besen BAMP, Pereira AJ, Veiga VC, Nascimento GM, Zavascki AP; OPTIMISE Study Group. Arns B, et al. Among authors: horvath jdc. Crit Care. 2024 Dec 18;28(1):412. doi: 10.1186/s13054-024-05178-6. Crit Care. 2024. PMID: 39695798 Free PMC article. Clinical Trial.
[We remember Vilmos Schulhof (1874-1944)].
Boros S, Mándó Z, Bergmann A, Gyarmati N, Horváth J, Kránicz Á, Kulisch Á. Boros S, et al. Among authors: horvath j. Orv Hetil. 2024 Nov 17;165(46):1837-1839. doi: 10.1556/650.2024.HO2805. Print 2024 Nov 17. Orv Hetil. 2024. PMID: 39550755 Hungarian. No abstract available.
801 results