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Items: 1 to 20 of 116

1.

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.

Clin Genet. 2013 Apr;83(4):352-8. doi: 10.1111/j.1399-0004.2012.01930.x. Epub 2012 Aug 7.

PMID:
22784330
2.

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.

Nat Genet. 2001 Oct;29(2):179-83.

PMID:
11559848
3.

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

Pauws E, Moore GE, Stanier P.

J Med Genet. 2009 Aug;46(8):555-61. doi: 10.1136/jmg.2009.066902.

PMID:
19648124
4.

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.

J Dent Res. 2011 Apr;90(4):450-5. doi: 10.1177/0022034510391052. Epub 2011 Jan 19.

PMID:
21248356
5.

Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate.

Fu X, Cheng Y, Yuan J, Huang C, Cheng H, Zhou R.

Hum Genet. 2015 Feb;134(2):147-58. doi: 10.1007/s00439-014-1503-8. Epub 2014 Nov 6.

PMID:
25373698
6.

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.

Am J Hum Genet. 2007 Oct;81(4):700-12. Epub 2007 Aug 16.

7.
8.

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.

Chaabouni M, Smaoui N, Benneji N, M'rad R, Jemaa LB, Hachicha S, Chaabouni H.

Clin Dysmorphol. 2005 Jan;14(1):23-5.

PMID:
15602089
9.

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.

Hum Mol Genet. 2002 Oct 15;11(22):2793-804.

PMID:
12374769
10.
11.

Tbx22 expressions during palatal development in fetuses with glucocorticoid-/alcohol-induced C57BL/6N cleft palates.

Kim SM, Lee JH, Jabaiti S, Lee SK, Choi JY.

J Craniofac Surg. 2009 Sep;20(5):1316-26. doi: 10.1097/SCS.0b013e3181ae6686.

PMID:
19816249
12.

Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis.

Herr A, Meunier D, Müller I, Rump A, Fundele R, Ropers HH, Nuber UA.

Dev Dyn. 2003 Apr;226(4):579-86.

13.

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.

Hum Mol Genet. 2009 Nov 1;18(21):4171-9. doi: 10.1093/hmg/ddp368. Epub 2009 Jul 31. Erratum in: Hum Mol Genet. 2010 Aug 1;19(15):3103.

14.

Non-syndromic cleft palate: analysis of TBX22 exon 5 gene mutation.

Jiang RS, Zhao X, Liu R.

Arch Med Sci. 2012 Jul 4;8(3):406-10. doi: 10.5114/aoms.2012.28812.

15.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
16.

TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly.

Kaewkhampa A, Jotikasthira D, Malaivijitnond S, Kantaputra P.

Cleft Palate Craniofac J. 2012 Mar;49(2):240-4. doi: 10.1597/10-208. Epub 2011 Mar 4.

PMID:
21375406
17.

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.

J Med Genet. 2004 Jan;41(1):68-74. No abstract available.

18.

TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.

Suphapeetiporn K, Tongkobpetch S, Siriwan P, Shotelersuk V.

Clin Genet. 2007 Nov;72(5):478-83. Epub 2007 Sep 14.

PMID:
17868388
19.

Alternative splicing, phylogenetic analysis, and craniofacial expression of zebrafish tbx22.

Jezewski PA, Fang PK, Payne-Ferreira TL, Yelick PC.

Dev Dyn. 2009 Jun;238(6):1605-12. doi: 10.1002/dvdy.21962.

20.

A suspected case of Abruzzo-Erickson syndrome.

Kidner G, Taylor J, Patton MA, Taylor N.

Cleft Palate Craniofac J. 2004 Sep;41(5):565-7.

PMID:
15352866

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