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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
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, van Maarle MC, Elting MW, den Hollander NS, Hamel B, Fortuna AM, Sunde LE, Stolte-Dijkstra I, Schrander-Stumpel CT, Hofstra RM. Vos YJ, et al. Among authors: van maarle mc. J Med Genet. 2010 Mar;47(3):169-75. doi: 10.1136/jmg.2009.071688. Epub 2009 Oct 20. J Med Genet. 2010. PMID: 19846429
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.
56 results