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Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.
van Schendel RV, Page-Christiaens GC, Beulen L, Bilardo CM, de Boer MA, Coumans AB, Faas BH, van Langen IM, Lichtenbelt KD, van Maarle MC, Macville MV, Oepkes D, Pajkrt E, Henneman L; Dutch NIPT Consortium. van Schendel RV, et al. Among authors: van maarle mc, van langen im. Prenat Diagn. 2016 Dec;36(12):1091-1098. doi: 10.1002/pd.4941. Epub 2016 Nov 16. Prenat Diagn. 2016. PMID: 27739584 Free PMC article.
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J. Paulussen AD, et al. Among authors: van essen aj, van haeringen a, van maarle mc, van bever y. Eur J Hum Genet. 2010 Sep;18(9):999-1005. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9. Eur J Hum Genet. 2010. PMID: 20531442 Free PMC article.
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.
Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR, Schulte-Merker S, Bulk S, Stefanovic S, Ilgun A, Barnett P, Mannens MM, Moorman AF, Oostra RJ, van Maarle MC. Postma AV, et al. Among authors: van maarle mc, van rijn rr. J Med Genet. 2014 Feb;51(2):90-7. doi: 10.1136/jmedgenet-2013-102001. Epub 2013 Nov 19. J Med Genet. 2014. PMID: 24253444
53 results