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Items: 1 to 20 of 21

1.

The AP-2 Transcription Factor APTF-2 Is Required for Neuroblast and Epidermal Morphogenesis in Caenorhabditis elegans Embryogenesis.

Budirahardja Y, Tan PY, Doan T, Weisdepp P, Zaidel-Bar R.

PLoS Genet. 2016 May 13;12(5):e1006048. doi: 10.1371/journal.pgen.1006048. eCollection 2016 May.

2.

AP-2β is a transcriptional regulator for determination of digit length in tetrapods.

Seki R, Kitajima K, Matsubara H, Suzuki T, Saito D, Yokoyama H, Tamura K.

Dev Biol. 2015 Nov 1;407(1):75-89. doi: 10.1016/j.ydbio.2015.08.006. Epub 2015 Aug 13.

3.

Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency.

Ji W, Benson MA, Bhattacharya S, Chen Y, Hu J, Li F.

J Surg Res. 2014 May 15;188(2):466-472. doi: 10.1016/j.jss.2014.01.015. Epub 2014 Jan 12.

4.

Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger.

Babaoğlu K, Oruç M, Günlemez A, Gelb BD.

Anadolu Kardiyol Derg. 2012 Sep;12(6):523-4. doi: 10.5152/akd.2012.165. Epub 2012 Jun 22. No abstract available. Erratum in: Anadolu Kardiyol Derg. 2012 Nov;12(7):619.

5.

A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning.

Zhao F, Bosserhoff AK, Buettner R, Moser M.

PLoS One. 2011;6(7):e22908. doi: 10.1371/journal.pone.0022908. Epub 2011 Jul 29.

6.

Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B.

Chen YW, Zhao W, Zhang ZF, Fu Q, Shen J, Zhang Z, Ji W, Wang J, Li F.

Pediatr Cardiol. 2011 Oct;32(7):958-65. doi: 10.1007/s00246-011-0024-7. Epub 2011 Jun 4.

PMID:
21643846
7.

Insights into the pathogenesis and genetic background of patency of the ductus arteriosus.

Bökenkamp R, DeRuiter MC, van Munsteren C, Gittenberger-de Groot AC.

Neonatology. 2010 Jun;98(1):6-17. doi: 10.1159/000262481. Epub 2009 Dec 2. Review.

8.

Patent arterial duct.

Forsey JT, Elmasry OA, Martin RP.

Orphanet J Rare Dis. 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. Review.

9.

Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus.

Khetyar M, Syrris P, Tinworth L, Abushaban L, Carter N.

Genet Test. 2008 Sep;12(3):457-9. doi: 10.1089/gte.2008.0015.

PMID:
18752453
10.

Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP.

Proc Natl Acad Sci U S A. 2005 Feb 22;102(8):2975-9. Epub 2005 Jan 31.

11.

Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.

Khau Van Kien P, Wolf JE, Mathieu F, Zhu L, Salve N, Lalande A, Bonnet C, Lesca G, Plauchu H, Dellinger A, Nivelon-Chevallier A, Brunotte F, Jeunemaitre X.

Eur J Hum Genet. 2004 Mar;12(3):173-80.

12.

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, Gelb BD.

Am J Hum Genet. 2001 Oct;69(4):695-703. Epub 2001 Aug 14.

13.

Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.

Vaughan CJ, Basson CT.

Am J Med Genet. 2000 Winter;97(4):304-9. Review.

PMID:
11376442
14.

Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control.

Hilger-Eversheim K, Moser M, Schorle H, Buettner R.

Gene. 2000 Dec 30;260(1-2):1-12. Review.

PMID:
11137286
15.

Char syndrome: an additional family with polythelia, a new finding.

Zannolli R, Mostardini R, Matera M, Pucci L, Gelb BD, Morgese G.

Am J Med Genet. 2000 Nov 27;95(3):201-3.

PMID:
11102923
16.
17.

Further delineation of Char syndrome.

Bertola DR, Kim CA, Sugayama SM, Utagawa CY, Albano LM, Gonzalez CH.

Pediatr Int. 2000 Feb;42(1):85-8. No abstract available.

PMID:
10703243
18.

Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome.

Gelb BD, Zhang J, Sommer RJ, Wasserman JM, Reitman MJ, Willner JP.

Am J Med Genet. 1999 Nov 19;87(2):175-9.

PMID:
10533032
19.

Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.

Satoda M, Pierpont ME, Diaz GA, Bornemeier RA, Gelb BD.

Circulation. 1999 Jun 15;99(23):3036-42.

20.

Familial patent ductus arteriosus: a further case of CHAR syndrome.

Slavotinek A, Clayton-Smith J, Super M.

Am J Med Genet. 1997 Aug 8;71(2):229-32.

PMID:
9217229

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