235 related articles for article (PubMed ID: 24898013)
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; 24(4):495-7. PubMed ID: 24898013
[No Abstract] [Full Text] [Related]
2. Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.
Sawardekar SS; Zaenglein AL
Pediatr Dermatol; 2011; 28(3):313-7. PubMed ID: 20738799
[TBL] [Abstract][Full Text] [Related]
3. Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.
Serra G; Antona V; Giuffré M; Li Pomi F; Lo Scalzo L; Piro E; Schierz IAM; Corsello G
Ital J Pediatr; 2021 Sep; 47(1):196. PubMed ID: 34583755
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22329826
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 24460201
[TBL] [Abstract][Full Text] [Related]
6. Ankyloblepharon-ectodermal dysplasia-clefting syndrome misdiagnosed as epidermolysis bullosa and congenital ichthyosiform erythroderma: Case report and review of published work.
Zhang Z; Cheng R; Liang J; Lu Z; Wang Y; Li M; Yu H; Yao Z
J Dermatol; 2019 May; 46(5):422-425. PubMed ID: 30809829
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 20491771
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 22247000
[TBL] [Abstract][Full Text] [Related]
9. A Human Stem Cell-Based System to Study the Role of TP63 Mutations in Ectodermal Dysplasias.
Dinella JD; Chen J; Webb S; Siegfried E; Bree AF; Lakshmanachetty S; Balaiya V; Koster MI; Koch PJ
J Invest Dermatol; 2018 Jul; 138(7):1662-1665. PubMed ID: 29481901
[No Abstract] [Full Text] [Related]
10. 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; 22(3):531-43. PubMed ID: 23108156
[TBL] [Abstract][Full Text] [Related]
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; 38(3):277-280. PubMed ID: 27485918
[TBL] [Abstract][Full Text] [Related]
12. Sweating ability of patients with p63-associated syndromes.
Ferstl P; Wohlfart S; Schneider H
Eur J Pediatr; 2018 Nov; 177(11):1727-1731. PubMed ID: 30088137
[TBL] [Abstract][Full Text] [Related]
13. A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.
Niculescu L; Wagner M; Westphal DS; Fischer M; Mihatsch W; Prothmann A; Ruzicka T; Wollenberg A; Wolff H; Schmidt H; Giehl KA
Acta Derm Venereol; 2019 Jan; 99(1):111-112. PubMed ID: 29956718
[No Abstract] [Full Text] [Related]
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; 28(1):15-9. PubMed ID: 19793345
[TBL] [Abstract][Full Text] [Related]
15. Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.
Zheng J; Liu H; Zhan Y; Liu Y; Wong SW; Cai T; Feng H; Han D
Mol Genet Genomic Med; 2019 Jun; 7(6):e704. PubMed ID: 31050217
[TBL] [Abstract][Full Text] [Related]
16. p63 and FGFR: when development meets proliferation.
Dotto GP
EMBO Mol Med; 2012 Mar; 4(3):165-7. PubMed ID: 22331572
[No Abstract] [Full Text] [Related]
17. 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. PubMed ID: 3605196
[TBL] [Abstract][Full Text] [Related]
18. [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. PubMed ID: 2757778
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 19676060
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 23348327
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]