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Items: 1 to 20 of 134

1.

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case with a novel p63 mutation associated with abnormal keratohyalin granules.

Hida T, Kase K, Hamada T, Matsuda M, Hashimoto T, Yamashita T.

Eur J Dermatol. 2014 Jul-Aug;24(4):495-7. doi: 10.1684/ejd.2014.2372. No abstract available.

PMID:
24898013
2.

Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.

Sawardekar SS, Zaenglein AL.

Pediatr Dermatol. 2011 May-Jun;28(3):313-7. doi: 10.1111/j.1525-1470.2010.01207.x. Epub 2010 Aug 4.

PMID:
20738799
3.

Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.

Koster MI, Dinella J, Chen J, O'Shea C, Koch PJ.

Cell Commun Adhes. 2014 Feb;21(1):55-63. doi: 10.3109/15419061.2013.876015. Review.

4.

Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology.

Clements SE, Techanukul T, Lai-Cheong JE, Mee JB, South AP, Pourreyron C, Burrows NP, Mellerio JE, McGrath JA.

Br J Dermatol. 2012 Jul;167(1):134-44. doi: 10.1111/j.1365-2133.2012.10888.x. Epub 2012 May 14.

PMID:
22329826
5.

Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome.

Ferone G, Thomason HA, Antonini D, De Rosa L, Hu B, Gemei M, Zhou H, Ambrosio R, Rice DP, Acampora D, van Bokhoven H, Del Vecchio L, Koster MI, Tadini G, Spencer-Dene B, Dixon M, Dixon J, Missero C.

EMBO Mol Med. 2012 Mar;4(3):192-205. doi: 10.1002/emmm.201100199. Epub 2012 Jan 13.

6.

Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.

Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA.

Br J Dermatol. 2010 Sep;163(3):624-9. doi: 10.1111/j.1365-2133.2010.09859.x. Review.

PMID:
20491771
7.

p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.

Ferone G, Mollo MR, Thomason HA, Antonini D, Zhou H, Ambrosio R, De Rosa L, Salvatore D, Getsios S, van Bokhoven H, Dixon J, Missero C.

Hum Mol Genet. 2013 Feb 1;22(3):531-43. doi: 10.1093/hmg/dds464. Epub 2012 Oct 29.

8.

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).

Rinne T, Bolat E, Meijer R, Scheffer H, van Bokhoven H.

Am J Med Genet A. 2009 Sep;149A(9):1948-51. doi: 10.1002/ajmg.a.32793.

PMID:
19676060
9.

p63 and FGFR: when development meets proliferation.

Dotto GP.

EMBO Mol Med. 2012 Mar;4(3):165-7. doi: 10.1002/emmm.201200202. Epub 2012 Feb 13. No abstract available.

10.
11.

Novel variant in the TP63 gene associated to ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.

Gonzalez F, Loidi L, Abalo-Lojo JM.

Ophthalmic Genet. 2017 May-Jun;38(3):277-280. doi: 10.1080/13816810.2016.1210649. Epub 2016 Aug 2.

PMID:
27485918
12.

Syndrome in question. Hay-Wells syndrome.

Tonolli VM, Stolf HO, Tonello CS, Pires RB, Abbade LP.

An Bras Dermatol. 2014 Mar-Apr;89(2):363-4.

13.

Modeling AEC-New approaches to study rare genetic disorders.

Koch PJ, Dinella J, Fete M, Siegfried EC, Koster MI.

Am J Med Genet A. 2014 Oct;164A(10):2443-54. doi: 10.1002/ajmg.a.36455. Epub 2014 Mar 24. Review.

14.

A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all?

Chiu YE, Drolet BA, Duffy KJ, Holland KE.

Pediatr Dermatol. 2011 Jan-Feb;28(1):15-9. doi: 10.1111/j.1525-1470.2009.00976.x.

PMID:
19793345
15.

Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome.

Farrington F, Lausten L.

Am J Med Genet A. 2009 Sep;149A(9):1907-9. doi: 10.1002/ajmg.a.32790.

PMID:
19681142
16.

Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.

Greene SL, Michels VV, Doyle JA.

Am J Med Genet. 1987 May;27(1):207-12.

PMID:
3605196
17.

[AEC syndrome: ankyloblepharon, ectodermal defect, cleft lip and palate (Hay-Wells syndrome)].

Martínez y Martínez R, Ornelas-Arana ML, Pérez-García G.

Bol Med Hosp Infant Mex. 1989 May;46(5):349-51. Spanish.

PMID:
2757778
18.

Scalp erosion in ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC syndrome): treatment with acellular dermal matrix.

Sheckter C, Rommer E, Francis C, Block V, Chen J, Rizvi M, Urata MM, Hammoudeh J.

J Craniofac Surg. 2013 Jan;24(1):e28-30. doi: 10.1097/SCS.0b013e3182688c32.

PMID:
23348327
19.

Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

Julapalli MR, Scher RK, Sybert VP, Siegfried EC, Bree AF.

Am J Med Genet A. 2009 Sep;149A(9):1900-6. doi: 10.1002/ajmg.a.32797.

PMID:
19681128
20.

Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

Cole P, Hatef DA, Kaufman Y, Magruder A, Bree A, Friedman E, Sindwani R, Hollier LH Jr.

Am J Med Genet A. 2009 Sep;149A(9):1910-5. doi: 10.1002/ajmg.a.32836.

PMID:
19697430

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