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Year | Number of Results |
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2013 | 1 |
2014 | 2 |
2015 | 1 |
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2024 | 0 |
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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
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.
Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.
Le Tanno P, Poreau B, Devillard F, Vieville G, Amblard F, Jouk PS, Satre V, Coutton C.
Le Tanno P, et al.
Am J Med Genet A. 2014 Jun;164A(6):1530-6. doi: 10.1002/ajmg.a.36467. Epub 2014 Mar 19.
Am J Med Genet A. 2014.
PMID: 24648389
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Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B, Berges-Soria J, Barroso E, Rivera-Pedroza CI, Pérez-Carrizosa V, Benito-Sanz S, López-Messa E, Santos F, García-Recuero II, Romance A, Ballesta-Martínez JM, López-González V, Campos-Barros Á, Cruz J, Guillén-Navarro E, Sánchez Del Pozo J, Lapunzina P, García-Miñaur S, Heath KE.
Paumard-Hernández B, et al.
Eur J Hum Genet. 2015 Jul;23(7):907-14. doi: 10.1038/ejhg.2014.205. Epub 2014 Oct 1.
Eur J Hum Genet. 2015.
PMID: 25271085
Free PMC article.
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Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Goos JA, Fenwick AL, Swagemakers SM, McGowan SJ, Knight SJ, Twigg SR, Hoogeboom AJ, van Dooren MF, Magielsen FJ, Wall SA, Mathijssen IM, Wilkie AO, van der Spek PJ, van den Ouweland AM.
Goos JA, et al.
Hum Mutat. 2016 Aug;37(8):732-6. doi: 10.1002/humu.23010. Epub 2016 Jun 2.
Hum Mutat. 2016.
PMID: 27158814
Free PMC article.
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Two novel variants in the TCF12 gene identified in cases with craniosynostosis.
Goumenos A, Tsoutsou E, Traeger-Synodinos J, Petychakis D, Gavra M, Kolialexi A, Frysira H.
Goumenos A, et al.
Appl Clin Genet. 2019 Feb 12;12:19-25. doi: 10.2147/TACG.S190855. eCollection 2019.
Appl Clin Genet. 2019.
PMID: 30858722
Free PMC article.
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