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Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.
Hendricks LAJ, Schuurs-Hoeijmakers J, Spier I, Haadsma ML, Eijkelenboom A, Cremer K, Mensenkamp AR, Aretz S, Vos JR, Hoogerbrugge N. Hendricks LAJ, et al. Among authors: eijkelenboom a. Eur J Med Genet. 2022 Jul;65(7):104533. doi: 10.1016/j.ejmg.2022.104533. Epub 2022 May 28. Eur J Med Genet. 2022. PMID: 35640862 Free article. Review.
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Weren RD, Mensenkamp AR, Simons M, Eijkelenboom A, Sie AS, Ouchene H, van Asseldonk M, Gomez-Garcia EB, Blok MJ, de Hullu JA, Nelen MR, Hoischen A, Bulten J, Tops BB, Hoogerbrugge N, Ligtenberg MJ. Weren RD, et al. Among authors: eijkelenboom a. Hum Mutat. 2017 Feb;38(2):226-235. doi: 10.1002/humu.23137. Epub 2016 Nov 9. Hum Mutat. 2017. PMID: 27767231 Free PMC article.
BRCA Testing by Single-Molecule Molecular Inversion Probes.
Neveling K, Mensenkamp AR, Derks R, Kwint M, Ouchene H, Steehouwer M, van Lier B, Bosgoed E, Rikken A, Tychon M, Zafeiropoulou D, Castelein S, Hehir-Kwa J, Tjwan Thung D, Hofste T, Lelieveld SH, Bertens SM, Adan IB, Eijkelenboom A, Tops BB, Yntema H, Stokowy T, Knappskog PM, Høberg-Vetti H, Steen VM, Boyle E, Martin B, Ligtenberg MJ, Shendure J, Nelen MR, Hoischen A. Neveling K, et al. Among authors: eijkelenboom a. Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14. Clin Chem. 2017. PMID: 27974384
Clinical, Pathology, Genetic, and Molecular Features of Colorectal Tumors in Adolescents and Adults 25 Years or Younger.
de Voer RM, Diets IJ, van der Post RS, Weren RDA, Kamping EJ, de Bitter TJJ, Elze L, Verhoeven RHA, Vink-Börger E, Eijkelenboom A, Mensenkamp A, Nagtegaal ID, Jongmans MCJ, Ligtenberg MJL. de Voer RM, et al. Among authors: eijkelenboom a. Clin Gastroenterol Hepatol. 2021 Aug;19(8):1642-1651.e8. doi: 10.1016/j.cgh.2020.06.034. Epub 2020 Jun 22. Clin Gastroenterol Hepatol. 2021. PMID: 32585361 Free article.
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.
Ten Broek RW, Eijkelenboom A, van der Vleuten CJM, Kamping EJ, Kets M, Verhoeven BH, Grünberg K, Schultze Kool LJ, Tops BBJ, Ligtenberg MJL, Flucke U. Ten Broek RW, et al. Among authors: eijkelenboom a. Genes Chromosomes Cancer. 2019 Aug;58(8):541-550. doi: 10.1002/gcc.22739. Epub 2019 Feb 11. Genes Chromosomes Cancer. 2019. PMID: 30677207 Free PMC article.
Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.
Steeghs EMP, Kroeze LI, Tops BBJ, van Kempen LC, Ter Elst A, Kastner-van Raaij AWM, Hendriks-Cornelissen SJB, Hermsen MJW, Jansen EAM, Nederlof PM, Schuuring E, Ligtenberg MJL, Eijkelenboom A. Steeghs EMP, et al. Among authors: eijkelenboom a. BMC Cancer. 2020 Apr 7;20(1):291. doi: 10.1186/s12885-020-06785-6. BMC Cancer. 2020. PMID: 32264863 Free PMC article.
Recommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics.
Eijkelenboom A, Tops BBJ, van den Berg A, van den Brule AJC, Dinjens WNM, Dubbink HJ, Ter Elst A, Geurts-Giele WRR, Groenen PJTA, Groenendijk FH, Heideman DAM, Huibers MMH, Huijsmans CJJ, Jeuken JWM, van Kempen LC, Korpershoek E, Kroeze LI, de Leng WWJ, van Noesel CJM, Speel EM, Vogel MJ, van Wezel T, Nederlof PM, Schuuring E, Ligtenberg MJL. Eijkelenboom A, et al. Virchows Arch. 2019 Jun;474(6):673-680. doi: 10.1007/s00428-019-02555-3. Epub 2019 Mar 19. Virchows Arch. 2019. PMID: 30888490 Free PMC article.
Kaposiform hemangioendothelioma and tufted angioma - (epi)genetic analysis including genome-wide methylation profiling.
Ten Broek RW, Koelsche C, Eijkelenboom A, Mentzel T, Creytens D, Vokuhl C, van Gorp JM, Versleijen-Jonkers YM, van der Vleuten CJ, Kemmeren P, van de Geer E, von Deimling A, Flucke U. Ten Broek RW, et al. Among authors: eijkelenboom a. Ann Diagn Pathol. 2020 Feb;44:151434. doi: 10.1016/j.anndiagpath.2019.151434. Epub 2019 Dec 10. Ann Diagn Pathol. 2020. PMID: 31887709 Free article.
49 results