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Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
Rodrigues Bento J, Krebsová A, Van Gucht I, Valdivia Callejon I, Van Berendoncks A, Votypka P, Luyckx I, Peldova P, Laga S, Havelka M, Van Laer L, Trunecka P, Boeckx N, Verstraeten A, Macek M, Meester JAN, Loeys B. Rodrigues Bento J, et al. Among authors: boeckx n. Hum Mutat. 2022 Dec;43(12):1824-1828. doi: 10.1002/humu.24433. Epub 2022 Jul 16. Hum Mutat. 2022. PMID: 35819173 Free PMC article.
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.
Luyckx I, MacCarrick G, Kempers M, Meester J, Geryl C, Rombouts O, Peeters N, Claes C, Boeckx N, Sakalihasan N, Jacquinet A, Hoischen A, Vandeweyer G, Van Lent S, Saenen J, Van Craenenbroeck E, Timmermans J, Duijnhouwer A, Dietz H, Van Laer L, Loeys B, Verstraeten A. Luyckx I, et al. Among authors: boeckx n. Eur J Hum Genet. 2019 Jul;27(7):1044-1053. doi: 10.1038/s41431-019-0363-z. Epub 2019 Feb 22. Eur J Hum Genet. 2019. PMID: 30796334 Free PMC article. Clinical Trial.
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M, Schrauwen I, Vandeweyer G, Boeckx N, Corneveaux JJ, van den Ende J, Boudewyns A, De Leenheer E, Janssens S, Claes K, Verstreken M, Strenzke N, Predöhl F, Wuyts W, Mortier G, Bitner-Glindzicz M, Moser T, Coucke P, Huentelman MJ, Van Camp G. Sommen M, et al. Among authors: boeckx n. Hum Mutat. 2016 Aug;37(8):812-9. doi: 10.1002/humu.22999. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27068579
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
Beyltjens T, Boudin E, Revencu N, Boeckx N, Bertrand M, Schütz L, Haack TB, Weber A, Biliouri E, Vinkšel M, Zagožen A, Peterlin B, Pai S, Telegrafi A, Henderson LB, Ells C, Turner L, Wuyts W, Van Hul W, Hendrickx G, Mortier GR. Beyltjens T, et al. Among authors: boeckx n. J Med Genet. 2023 May;60(5):498-504. doi: 10.1136/jmg-2022-108739. Epub 2022 Oct 14. J Med Genet. 2023. PMID: 36241386 Free PMC article.
Mutation and Methylation Analysis of Circulating Tumor DNA Can Be Used for Follow-up of Metastatic Colorectal Cancer Patients.
Boeckx N, Op de Beeck K, Beyens M, Deschoolmeester V, Hermans C, De Clercq P, Garrigou S, Normand C, Monsaert E, Papadimitriou K, Laurent-Puig P, Pauwels P, Van Camp G, Taly V, Peeters M. Boeckx N, et al. Clin Colorectal Cancer. 2018 Jun;17(2):e369-e379. doi: 10.1016/j.clcc.2018.02.006. Epub 2018 Feb 22. Clin Colorectal Cancer. 2018. PMID: 29605591
Effect of Primary Tumor Location on Second- or Later-line Treatment Outcomes in Patients With RAS Wild-type Metastatic Colorectal Cancer and All Treatment Lines in Patients With RAS Mutations in Four Randomized Panitumumab Studies.
Boeckx N, Koukakis R, Op de Beeck K, Rolfo C, Van Camp G, Siena S, Tabernero J, Douillard JY, André T, Peeters M. Boeckx N, et al. Clin Colorectal Cancer. 2018 Sep;17(3):170-178.e3. doi: 10.1016/j.clcc.2018.03.005. Epub 2018 Mar 8. Clin Colorectal Cancer. 2018. PMID: 29627309 Free article.
94 results