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Page 1
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium; Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO. Sharma VP, et al. Among authors: mathijssen im. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27. Nat Genet. 2013. PMID: 23354436 Free PMC article.
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
Twigg SR, Matsumoto K, Kidd AM, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJ, Mathijssen IM, Lourenco MT, Morton JE, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, Wilkie AO. Twigg SR, et al. Among authors: mathijssen im. Am J Hum Genet. 2006 Jun;78(6):999-1010. doi: 10.1086/504440. Epub 2006 Apr 28. Am J Hum Genet. 2006. PMID: 16685650 Free PMC article.
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO. Jenkins D, et al. Among authors: mathijssen im. Am J Hum Genet. 2007 Jun;80(6):1162-70. doi: 10.1086/518047. Epub 2007 Apr 18. Am J Hum Genet. 2007. PMID: 17503333 Free PMC article.
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO. Twigg SR, et al. Among authors: mathijssen im. Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409524 Free PMC article.
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.
Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML, van der Spek PJ, Giraud A, Judd L, Arte S, Brueton LA, Wall SA, Mathijssen IM, Maher ER, Wilkie AO, Kreiborg S, Thesleff I. Nieminen P, et al. Among authors: mathijssen im. Am J Hum Genet. 2011 Jul 15;89(1):67-81. doi: 10.1016/j.ajhg.2011.05.024. Am J Hum Genet. 2011. PMID: 21741611 Free PMC article.
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO. Twigg SR, et al. Among authors: mathijssen im. Hum Mol Genet. 2013 Apr 15;22(8):1654-62. doi: 10.1093/hmg/ddt015. Epub 2013 Jan 17. Hum Mol Genet. 2013. PMID: 23335590 Free PMC article.
Boston type craniosynostosis: report of a second mutation in MSX2.
Florisson JM, Verkerk AJ, Huigh D, Hoogeboom AJ, Swagemakers S, Kremer A, Heijsman D, Lequin MH, Mathijssen IM, van der Spek PJ. Florisson JM, et al. Among authors: mathijssen im. Am J Med Genet A. 2013 Oct;161A(10):2626-33. doi: 10.1002/ajmg.a.36126. Epub 2013 Aug 15. Am J Med Genet A. 2013. PMID: 23949913
230 results