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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. 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
A single Na(+) channel mutation causing both long-QT and Brugada syndromes.
Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, van Der Hout AH, Mannens MM, Wilde AA. Bezzina C, et al. Among authors: postma av. Circ Res. 1999 Dec 3-17;85(12):1206-13. doi: 10.1161/01.res.85.12.1206. Circ Res. 1999. PMID: 10590249
Mutations in the sarcomere gene MYH7 in Ebstein anomaly.
Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S. Postma AV, et al. Circ Cardiovasc Genet. 2011 Feb;4(1):43-50. doi: 10.1161/CIRCGENETICS.110.957985. Epub 2010 Dec 2. Circ Cardiovasc Genet. 2011. PMID: 21127202
79 results