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1950 1
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2011 4
2012 6
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2015 6
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2017 6
2018 11
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2021 9
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74 results

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Page 1
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De… See abstract for full author list ➔ Stolarova L, et al. Among authors: volk ae. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 Free PMC article.
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmüller J, Volk AE, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E. Hauke J, et al. Among authors: volk ae. Cancer Med. 2018 Apr;7(4):1349-1358. doi: 10.1002/cam4.1376. Epub 2018 Mar 9. Cancer Med. 2018. PMID: 29522266 Free PMC article.
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.
Winsvold BS, Harder AVE, Ran C, Chalmer MA, Dalmasso MC, Ferkingstad E, Tripathi KP, Bacchelli E, Børte S, Fourier C, Petersen AS, Vijfhuizen LS, Magnusson SH, O'Connor E, Bjornsdottir G, Häppölä P, Wang YF, Callesen I, Kelderman T, Gallardo VJ, de Boer I, Olofsgård FJ, Heinze K, Lund N, Thomas LF, Hsu CL, Pirinen M, Hautakangas H, Ribasés M, Guerzoni S, Sivakumar P, Yip J, Heinze A, Küçükali F, Ostrowski SR, Pedersen OB, Kristoffersen ES, Martinsen AE, Artigas MS, Lagrata S, Cainazzo MM, Adebimpe J, Quinn O, Göbel C, Cirkel A, Volk AE, Heilmann-Heimbach S, Skogholt AH, Gabrielsen ME, Wilbrink LA, Danno D, Mehta D, Guðbjartsson DF; HUNT All-In Headache, The International Headache Genetics Consortium, DBDS Genomic Consortium; Rosendaal FR, Willems van Dijk K, Fronczek R, Wagner M, Scherer M, Göbel H, Sleegers K, Sveinsson OA, Pani L, Zoli M, Ramos-Quiroga JA, Dardiotis E, Steinberg A, Riedel-Heller S, Sjöstrand C, Thorgeirsson TE, Stefansson H, Southgate L, Trembath RC, Vandrovcova J, Noordam R, Paemeleire K, Stefansson K, Fann CS, Waldenlind E, Tronvik E, Jensen RH, Chen SP, Houlden H, Terwindt GM, Kubisch C, Maestrini E, Vikelis M, Pozo-Rosich P, Belin AC, Matharu M, van d… See abstract for full author list ➔ Winsvold BS, et al. Among authors: volk ae. Ann Neurol. 2023 Oct;94(4):713-726. doi: 10.1002/ana.26743. Epub 2023 Aug 7. Ann Neurol. 2023. PMID: 37486023 Free PMC article.
Hot-spot KIF5A mutations cause familial ALS.
Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET. Brenner D, et al. Among authors: volk ae. Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370. Brain. 2018. PMID: 29342275 Free PMC article.
Clinico-genetic findings in 509 frontotemporal dementia patients.
Wagner M, Lorenz G, Volk AE, Brunet T, Edbauer D, Berutti R, Zhao C, Anderl-Straub S, Bertram L, Danek A, Deschauer M, Dill V, Fassbender K, Fliessbach K, Götze KS, Jahn H, Kornhuber J, Landwehrmeyer B, Lauer M, Obrig H, Prudlo J, Schneider A, Schroeter ML, Uttner I, Vukovich R, Wiltfang J, Winkler AS, Zhou Q, Ludolph AC; German FTLD consortium; Oexle K, Otto M, Diehl-Schmid J, Winkelmann J. Wagner M, et al. Among authors: volk ae. Mol Psychiatry. 2021 Oct;26(10):5824-5832. doi: 10.1038/s41380-021-01271-2. Epub 2021 Sep 24. Mol Psychiatry. 2021. PMID: 34561610 Free PMC article.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Hinić S, Cybulski C, Van der Post RS, Vos JR, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams WAG, Kets CM, Haadsma M, Spruijt L, Wevers MR, Evans DG, Wimmer K, Schnaiter S, Volk AE, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong MM, Vaz F, Mensenkamp AR, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer RM. Hinić S, et al. Among authors: volk ae. Genet Med. 2024 May;26(5):101101. doi: 10.1016/j.gim.2024.101101. Epub 2024 Feb 13. Genet Med. 2024. PMID: 38362852 Free article.
Predicting disease progression in behavioral variant frontotemporal dementia.
Anderl-Straub S, Lausser L, Lombardi J, Uttner I, Fassbender K, Fliessbach K, Huppertz HJ, Jahn H, Kornhuber J, Obrig H, Schneider A, Semler E, Synofzik M, Danek A, Prudlo J, Kassubek J, Landwehrmeyer B, Lauer M, Volk AE, Wiltfang J, Diehl-Schmid J, Ludolph AC, Schroeter ML, Kestler HA, Otto M; FTLD consortium. Anderl-Straub S, et al. Among authors: volk ae. Alzheimers Dement (Amst). 2021 Dec 31;13(1):e12262. doi: 10.1002/dad2.12262. eCollection 2021. Alzheimers Dement (Amst). 2021. PMID: 35005196 Free PMC article.
NEK1 mutations in familial amyotrophic lateral sclerosis.
Brenner D, Müller K, Wieland T, Weydt P, Böhm S, Lulé D, Hübers A, Neuwirth C, Weber M, Borck G, Wahlqvist M, Danzer KM, Volk AE, Meitinger T, Strom TM, Otto M, Kassubek J, Ludolph AC, Andersen PM, Weishaupt JH. Brenner D, et al. Among authors: volk ae. Brain. 2016 May;139(Pt 5):e28. doi: 10.1093/brain/aww033. Epub 2016 Mar 5. Brain. 2016. PMID: 26945885 No abstract available.
74 results