Stanier P - Search Results

1

A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia.

Pauws E, Moore GE, Stanier P. Pauws E, et al. Among authors: stanier p. J Med Genet. 2009 Aug;46(8):555-61. doi: 10.1136/jmg.2009.066902. J Med Genet. 2009. PMID: 19648124

2

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.

Andreou AM, Pauws E, Jones MC, Singh MK, Bussen M, Doudney K, Moore GE, Kispert A, Brosens JJ, Stanier P. Andreou AM, et al. Among authors: stanier p. Am J Hum Genet. 2007 Oct;81(4):700-12. doi: 10.1086/521033. Epub 2007 Aug 16. Am J Hum Genet. 2007. PMID: 17846996 Free PMC article.

3

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

Pauws E, Hoshino A, Bentley L, Prajapati S, Keller C, Hammond P, Martinez-Barbera JP, Moore GE, Stanier P. Pauws E, et al. Among authors: stanier p. Hum Mol Genet. 2009 Nov 1;18(21):4171-9. doi: 10.1093/hmg/ddp368. Epub 2009 Jul 31. Hum Mol Genet. 2009. PMID: 19648291 Free PMC article.

4

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

Braybrook C, Doudney K, Marçano AC, Arnason A, Bjornsson A, Patton MA, Goodfellow PJ, Moore GE, Stanier P. Braybrook C, et al. Among authors: stanier p. Nat Genet. 2001 Oct;29(2):179-83. doi: 10.1038/ng730. Nat Genet. 2001. PMID: 11559848

5

TBX22 mutations are a frequent cause of cleft palate.

Marçano AC, Doudney K, Braybrook C, Squires R, Patton MA, Lees MM, Richieri-Costa A, Lidral AC, Murray JC, Moore GE, Stanier P. Marçano AC, et al. Among authors: stanier p. J Med Genet. 2004 Jan;41(1):68-74. doi: 10.1136/jmg.2003.010868. J Med Genet. 2004. PMID: 14729838 Free PMC article. No abstract available.

6

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.

Kantaputra PN, Paramee M, Kaewkhampa A, Hoshino A, Lees M, McEntagart M, Masrour N, Moore GE, Pauws E, Stanier P. Kantaputra PN, et al. Among authors: stanier p. J Dent Res. 2011 Apr;90(4):450-5. doi: 10.1177/0022034510391052. Epub 2011 Jan 19. J Dent Res. 2011. PMID: 21248356 Free article.

7

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

Pauws E, Peskett E, Boissin C, Hoshino A, Mengrelis K, Carta E, Abruzzo MA, Lees M, Moore GE, Erickson RP, Stanier P. Pauws E, et al. Among authors: stanier p. Clin Genet. 2013 Apr;83(4):352-8. doi: 10.1111/j.1399-0004.2012.01930.x. Epub 2012 Aug 7. Clin Genet. 2013. PMID: 22784330

8

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

Braybrook C, Lisgo S, Doudney K, Henderson D, Marçano AC, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S. Braybrook C, et al. Among authors: stanier p. Hum Mol Genet. 2002 Oct 15;11(22):2793-804. doi: 10.1093/hmg/11.22.2793. Hum Mol Genet. 2002. PMID: 12374769

9

Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts.

Stanier P, Moore GE. Stanier P, et al. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R73-81. doi: 10.1093/hmg/ddh052. Epub 2004 Jan 13. Hum Mol Genet. 2004. PMID: 14722155 Review.

10

FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate.

Pauws E, Stanier P. Pauws E, et al. Among authors: stanier p. Trends Genet. 2007 Dec;23(12):631-40. doi: 10.1016/j.tig.2007.09.002. Epub 2007 Nov 5. Trends Genet. 2007. PMID: 17981355 Review.

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