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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1973 1
1974 2
1977 1
1985 1
1987 1
1988 2
1989 1
1991 3
1993 1
1995 3
1996 2
1997 2
1998 1
1999 1
2000 2
2002 2
2003 1
2004 2
2006 1
2009 1
2010 3
2011 2
2012 1
2013 1
2015 3
2024 0

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PubMed (OMIM) for id: 117581

41 results

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Page 1
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Marchegiani S, et al. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. Am J Hum Genet. 2015. PMID: 26119818 Free PMC article.
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ. Slavotinek AM, et al. Hum Mol Genet. 2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16. Hum Mol Genet. 2013. PMID: 23161670 Free PMC article.
Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, Durán-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ. Cervantes-Barragán DE, et al. J Med Genet. 2011 Oct;48(10):716-20. doi: 10.1136/jmedgenet-2011-100251. J Med Genet. 2011. PMID: 21931173
Oral and dental abnormalities in Barber-Say syndrome.
Martins F, Ortega KL, Hiraoka C, Ricardo P, Magalhães M. Martins F, et al. Am J Med Genet A. 2010 Oct;152A(10):2569-73. doi: 10.1002/ajmg.a.32898. Am J Med Genet A. 2010. PMID: 20830793
Barber-Say syndrome in a father and daughter.
Roche N, Houtmeyers P, Janssens S, Blondeel P. Roche N, et al. Am J Med Genet A. 2010 Oct;152A(10):2563-8. doi: 10.1002/ajmg.a.33622. Am J Med Genet A. 2010. PMID: 20799330
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ. Tukel T, et al. Am J Hum Genet. 2010 Aug 13;87(2):289-96. doi: 10.1016/j.ajhg.2010.07.009. Am J Hum Genet. 2010. PMID: 20691403 Free PMC article.
41 results