These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

300 related articles for article (PubMed ID: 27485918)

  • 1. 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]  

  • 2. 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]  

  • 3. A rare form of ankyloblepharon filiforme adnatum associated with the Hay-Wells syndrome and a c.1709T>C mutation on the TP63 gene.
    Koubek M; Strakošová K; Timkovič J; Grečmalová D; Orlíková A; Burčková H; Wiedermannová H; Mašek P
    Ophthalmic Genet; 2018 Apr; 39(2):251-254. PubMed ID: 29140732
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
    Cadieux-Dion M; Safina NP; Engleman K; Saunders C; Repnikova E; Raje N; Canty K; Farrow E; Miller N; Zellmer L; Thiffault I
    BMC Med Genet; 2018 Mar; 19(1):41. PubMed ID: 29523099
    [TBL] [Abstract][Full Text] [Related]  

  • 8. TP63-related disorders: two case reports and a brief review of the literature.
    Nanda A; AlLafi A; Wolf S; AlMasry IM; Betz R
    Dermatol Online J; 2021 Nov; 27(11):. PubMed ID: 35130400
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
    Soğukpınar M; Utine GE; Boduroğlu K; Şimşek-Kiper PÖ
    Eur J Med Genet; 2024 Apr; 68():104911. PubMed ID: 38281558
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 22065614
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.
    Serra V; Castori M; Paradisi M; Bui L; Melino G; Terrinoni A
    Am J Med Genet A; 2011 Dec; 155A(12):3104-9. PubMed ID: 22069181
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 16365259
    [TBL] [Abstract][Full Text] [Related]  

  • 15. International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.
    Fete M; vanBokhoven H; Clements SE; McKeon F; Roop DR; Koster MI; Missero C; Attardi LD; Lombillo VA; Ratovitski E; Julapalli M; Ruths D; Sybert VP; Siegfried EC; Bree AF
    Am J Med Genet A; 2009 Sep; 149A(9):1885-93. PubMed ID: 19353643
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63.
    Zarnegar BJ; Webster DE; Lopez-Pajares V; Vander Stoep Hunt B; Qu K; Yan KJ; Berk DR; Sen GL; Khavari PA
    Am J Hum Genet; 2012 Sep; 91(3):435-43. PubMed ID: 22922031
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis.
    Barbaro V; Nardiello P; Castaldo G; Willoughby CE; Ferrari S; Ponzin D; Amato F; Bonifazi E; Parekh M; Calistri A; Parolin C; Di Iorio E
    Am J Med Genet A; 2012 Aug; 158A(8):1957-61. PubMed ID: 22740388
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.
    Gawrych E; Bińczak-Kuleta A; Janiszewska-Olszowska J; Ciechanowicz A
    Ann Acad Med Stetin; 2013; 59(1):11-4. PubMed ID: 24734328
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.