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Items: 1 to 20 of 228

1.

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
2.

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
3.

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
4.
5.

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
6.

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
7.

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
8.

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
9.

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
10.

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.

11.

Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?

Cambiaghi S, Tadini G, Barbareschi M, Menni S, Caputo R.

Br J Dermatol. 1994 Jan;130(1):97-101.

PMID:
8305327
12.

Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.

Dishop MK, Bree AF, Hicks MJ.

Am J Med Genet A. 2009 Sep;149A(9):1935-41. doi: 10.1002/ajmg.a.32826.

PMID:
19697429
13.

A newborn with overlapping features of AEC and EEC syndromes.

Celik TH, Buyukcam A, Simsek-Kiper PO, Utine GE, Ersoy-Evans S, Korkmaz A, Yntema HG, Bodugroglu K, Yurdakok M.

Am J Med Genet A. 2011 Dec;155A(12):3100-3. doi: 10.1002/ajmg.a.34328. Epub 2011 Nov 7.

PMID:
22065614
14.
15.

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.

16.

Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome.

Cabiling DS, Yan AC, McDonald-McGinn DM, Zackai EH, Kirschner RE.

Cleft Palate Craniofac J. 2007 May;44(3):335-9. Review.

PMID:
17477760
17.

Ectodermal dysplasias associated with clefting: significance of scalp dermatitis.

Fosko SW, Stenn KS, Bolognia JL.

J Am Acad Dermatol. 1992 Aug;27(2 Pt 1):249-56. Review.

PMID:
1341424
18.

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
19.

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
20.

Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.

Payne AS, Yan AC, Ilyas E, Li W, Seykora JT, Young TL, Pawel BR, Honig PJ, Camacho J, Imaizumi S, Heymann WR, Schnur RE.

Arch Dermatol. 2005 Dec;141(12):1567-73.

PMID:
16365259

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