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[Rapid prenatal diagnosis of chromosomal abnormalities; limitations and possibilities].
Boormans EM, van Lith JM, Bilardo CM, Knegt AC, Oepkes D, Hoffer MJ, Boon EM, Wildschut HI, Galjaard RJ, Schuring-Blom GH, van Oppen AC, Smits A, Creemers J, Go A, Nieuwint A, Nijhuis JG, de Die C, Bonsel GJ, Birnie E, Leschot N. Boormans EM, et al. Among authors: hoffer mj. Ned Tijdschr Geneeskd. 2006 Nov 4;150(44):2455; author reply 2455. Ned Tijdschr Geneeskd. 2006. PMID: 17131707 Dutch. No abstract available.
Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis.
Boormans EM, Birnie E, Hoffer MJ, Macville MV, Galjaard RJ, Schuring-Blom GH, Bhola SL, Huijsdens K, Smits A, van Lith JM. Boormans EM, et al. Among authors: hoffer mj. Arch Gynecol Obstet. 2012 Jan;285(1):67-75. doi: 10.1007/s00404-011-1921-y. Epub 2011 May 19. Arch Gynecol Obstet. 2012. PMID: 21594605 Free PMC article.
Copy number variants in patients with short stature.
van Duyvenvoorde HA, Lui JC, Kant SG, Oostdijk W, Gijsbers AC, Hoffer MJ, Karperien M, Walenkamp MJ, Noordam C, Voorhoeve PG, Mericq V, Pereira AM, Claahsen-van de Grinten HL, van Gool SA, Breuning MH, Losekoot M, Baron J, Ruivenkamp CA, Wit JM. van Duyvenvoorde HA, et al. Among authors: hoffer mj. Eur J Hum Genet. 2014 May;22(5):602-9. doi: 10.1038/ejhg.2013.203. Epub 2013 Sep 25. Eur J Hum Genet. 2014. PMID: 24065112 Free PMC article.
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Breckpot J, Vercruyssen M, Weyts E, Vandevoort S, D'Haenens G, Van Buggenhout G, Leempoels L, Brischoux-Boucher E, Van Maldergem L, Renieri A, Mencarelli MA, D'Angelo C, Mericq V, Hoffer MJ, Tauber M, Molinas C, Castiglioni C, Brison N, Vermeesch JR, Danckaerts M, Sienaert P, Devriendt K, Vogels A. Breckpot J, et al. Among authors: hoffer mj. Eur J Med Genet. 2016 Sep;59(9):436-43. doi: 10.1016/j.ejmg.2016.08.003. Epub 2016 Aug 9. Eur J Med Genet. 2016. PMID: 27519580
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Van Opstal D, van Maarle MC, Lichtenbelt K, Weiss MM, Schuring-Blom H, Bhola SL, Hoffer MJV, Huijsdens-van Amsterdam K, Macville MV, Kooper AJA, Faas BHW, Govaerts L, Tan-Sindhunata GM, den Hollander N, Feenstra I, Galjaard RH, Oepkes D, Ghesquiere S, Brouwer RWW, Beulen L, Bollen S, Elferink MG, Straver R, Henneman L, Page-Christiaens GC, Sistermans EA. Van Opstal D, et al. Genet Med. 2018 Apr;20(5):480-485. doi: 10.1038/gim.2017.132. Epub 2017 Sep 28. Genet Med. 2018. PMID: 29121006 Free PMC article.
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, Bilardo CM, Boon EMJ, Boter M, Diderich KEM, de Die-Smulders CEM, Duin LK, Faas BHW, Feenstra I, Haak MC, Hoffer MJV, den Hollander NS, Hollink IHIM, Jehee FS, Knapen MFCM, Kooper AJA, van Langen IM, Lichtenbelt KD, Linskens IH, van Maarle MC, Oepkes D, Pieters MJ, Schuring-Blom GH, Sikkel E, Sikkema-Raddatz B, Smeets DFCM, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Ven AJEM, van Zelderen-Bhola SL, Henneman L, Galjaard RH, Van Opstal D, Weiss MM; Dutch NIPT Consortium. van der Meij KRM, et al. Among authors: hoffer mjv. Am J Hum Genet. 2019 Dec 5;105(6):1091-1101. doi: 10.1016/j.ajhg.2019.10.005. Epub 2019 Nov 7. Am J Hum Genet. 2019. PMID: 31708118 Free PMC article.
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
van Nisselrooij AEL, Lugthart MA, Clur SA, Linskens IH, Pajkrt E, Rammeloo LA, Rozendaal L, Blom NA, van Lith JMM, Knegt AC, Hoffer MJV, Aten E, Santen GWE, Haak MC. van Nisselrooij AEL, et al. Genet Med. 2020 Jul;22(7):1206-1214. doi: 10.1038/s41436-020-0791-8. Epub 2020 Apr 28. Genet Med. 2020. PMID: 32341573 Free PMC article.
82 results