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Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.
Vaz FM, Jamal Y, Barto R, Gelb MH, DeBarber AE, Wevers RA, Nelen MR, Verrips A, Bootsma AH, Bouva MJ, Kleise N, van der Zee W, He T, Salomons GS, Huidekoper HH. Vaz FM, et al. Among authors: nelen mr. Clin Chim Acta. 2023 Jan 15;539:170-174. doi: 10.1016/j.cca.2022.12.011. Epub 2022 Dec 16. Clin Chim Acta. 2023. PMID: 36529270 Free PMC article.
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S, Lee A, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Barile M, Pensotti V, Pasini B, Dolcetti R, Giannini G, Putignano AL, Varesco L, Radice P, Mai PL, Greene MH, Andrulis IL, Glendon G, Ozcelik H, Thomassen M, Gerdes AM, Kruse TA, Birk Jensen U, Crüger DG, Caligo MA, Laitman Y, Milgrom R, Kaufman B, Paluch-Shimon S, Friedman E, Loman N, Harbst K, Lindblom A, Arver B, Ehrencrona H, Melin B; SWE-BRCA; Nathanson KL, Domchek SM, Rebbeck T, Jakubowska A, Lubinski J, Gronwald J, Huzarski T, Byrski T, Cybulski C, Gorski B, Osorio A, Ramón y Cajal T, Fostira F, Andrés R, Benitez J, Hamann U, Hogervorst FB, Rookus MA, Hooning MJ, Nelen MR, van der Luijt RB, van Os TA, van Asperen CJ, Devilee P, Meijers-Heijboer HE, Gómez Garcia EB; HEBON; Peock S, Cook M, Frost D, Platte R, Leyland J, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Eccles D, Ong KR, Cook J, Douglas F, Paterson J, Kennedy MJ, Miedzybrodzka Z; EMBRACE; Godwin A, Stoppa-Lyonnet D, Buecher B, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Lasset C, Leroux D, Faivre L, Bronner M, Prieur F, Nogues C, Rouleau E, Pujol P, Co… See abstract for full author list ➔ Antoniou AC, et al. Among authors: nelen mr. Hum Mol Genet. 2011 Aug 15;20(16):3304-21. doi: 10.1093/hmg/ddr226. Epub 2011 May 18. Hum Mol Genet. 2011. PMID: 21593217 Free PMC article.
New ECG criteria in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Cox MG, van der Smagt JJ, Wilde AA, Wiesfeld AC, Atsma DE, Nelen MR, Rodriguez LM, Loh P, Cramer MJ, Doevendans PA, van Tintelen JP, de Bakker JM, Hauer RN. Cox MG, et al. Among authors: nelen mr. Circ Arrhythm Electrophysiol. 2009 Oct;2(5):524-30. doi: 10.1161/CIRCEP.108.832519. Epub 2009 Jul 7. Circ Arrhythm Electrophysiol. 2009. PMID: 19843920
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.
Zhang J, Wang X, de Voer RM, Hehir-Kwa JY, Kamping EJ, Weren RDA, Nelen M, Hoischen A, Ligtenberg MJL, Hoogerbrugge N, Yang X, Yang Z, Fan X, Wang L, Liu H, Wang J, Kuiper RP, van Kessel AG. Zhang J, et al. Oncotarget. 2017 Apr 11;8(15):24533-24547. doi: 10.18632/oncotarget.15593. Oncotarget. 2017. PMID: 28445943 Free PMC article.
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Haer-Wigman L, den Ouden A, van Genderen MM, Kroes HY, Verheij J, Smailhodzic D, Hoekstra AS, Vijzelaar R, Blom J, Derks R, Tjon-Pon-Fong M, Yntema HG, Nelen MR, Vissers LELM, Lugtenberg D, Neveling K. Haer-Wigman L, et al. Among authors: nelen mr. NPJ Genom Med. 2022 Nov 9;7(1):65. doi: 10.1038/s41525-022-00334-9. NPJ Genom Med. 2022. PMID: 36351915 Free PMC article.
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.
Walker LC, Fredericksen ZS, Wang X, Tarrell R, Pankratz VS, Lindor NM, Beesley J, Healey S, Chen X; kConFab; Stoppa-Lyonnet D, Tirapo C, Giraud S, Mazoyer S, Muller D, Fricker JP, Delnatte C; GEMO Study Collaborators; Schmutzler RK, Wappenschmidt B, Engel C, Schönbuchner I, Deissler H, Meindl A, Hogervorst FB, Verheus M, Hooning MJ, van den Ouweland AM, Nelen MR, Ausems MG, Aalfs CM, van Asperen CJ, Devilee P, Gerrits MM, Waisfisz Q; HEBON; Szabo CI; ModSQuaD; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Harrington P, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Davidson R, Eccles D, Ong KR, Cook J; EMBRACE; Rebbeck T, Nathanson KL, Domchek SM, Singer CF, Gschwantler-Kaulich D, Dressler AC, Pfeiler G, Godwin AK, Heikkinen T, Nevanlinna H, Agnarsson BA, Caligo MA, Olsson H, Kristoffersson U, Liljegren A, Arver B, Karlsson P, Melin B; SWE-BRCA; Sinilnikova OM, McGuffog L, Antoniou AC, Chenevix-Trench G, Spurdle AB, Couch FJ. Walker LC, et al. Among authors: nelen mr. Breast Cancer Res. 2010;12(6):R102. doi: 10.1186/bcr2785. Epub 2010 Nov 29. Breast Cancer Res. 2010. PMID: 21114847 Free PMC article.
73 results