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 *

233 related articles for article (PubMed ID: 15889277)

  • 1. An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.
    Lehmann K; Mundlos S; Meinecke P
    Eur J Pediatr; 2005 Aug; 164(8):530-1. PubMed ID: 15889277
    [No Abstract]   [Full Text] [Related]  

  • 2. A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome.
    Kosaki R; Ohashi H; Yoshihashi H; Suzuki T; Kosaki K
    Clin Genet; 2001 Oct; 60(4):314-5. PubMed ID: 11683779
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.
    Shotelersuk V; Janklat S; Siriwan P; Tongkobpetch S
    Clin Exp Dermatol; 2005 May; 30(3):282-5. PubMed ID: 15807690
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.
    Barrow LL; van Bokhoven H; Daack-Hirsch S; Andersen T; van Beersum SE; Gorlin R; Murray JC
    J Med Genet; 2002 Aug; 39(8):559-66. PubMed ID: 12161593
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate.
    Siegfried E; Bree A; Fete M; Sybert VP
    Arch Dermatol; 2005 Dec; 141(12):1591-4. PubMed ID: 16365264
    [No Abstract]   [Full Text] [Related]  

  • 7. 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]  

  • 8. An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.
    Prontera P; Escande F; Cocchi G; Donti E; Martini A; Sensi A
    Genet Couns; 2008; 19(4):397-402. PubMed ID: 19239083
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.
    Bertola DR; Kim CA; Albano LM; Scheffer H; Meijer R; van Bokhoven H
    Clin Genet; 2004 Jul; 66(1):79-80. PubMed ID: 15200513
    [No Abstract]   [Full Text] [Related]  

  • 10. A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon.
    Tsutsui K; Asai Y; Fujimoto A; Yamamoto M; Kubo M; Hatta N
    Br J Dermatol; 2003 Aug; 149(2):395-9. PubMed ID: 12932250
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
    Clements SE; Techanukul T; Coman D; Mellerio JE; McGrath JA
    Br J Dermatol; 2010 Jan; 162(1):201-7. PubMed ID: 19903181
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).
    Janssens S; Defoort P; Vandenbroecke C; Scheffer H; Mortier G
    Genet Couns; 2008; 19(4):433-7. PubMed ID: 19239089
    [TBL] [Abstract][Full Text] [Related]  

  • 14. EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report.
    Okur M; Eroz R; Mundlos S; Senses DA; Ulgen E; Ismailler ZB; Ozcelik D
    Genet Couns; 2012; 23(4):483-5. PubMed ID: 23431748
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
    Celli J; Duijf P; Hamel BC; Bamshad M; Kramer B; Smits AP; Newbury-Ecob R; Hennekam RC; Van Buggenhout G; van Haeringen A; Woods CG; van Essen AJ; de Waal R; Vriend G; Haber DA; Yang A; McKeon F; Brunner HG; van Bokhoven H
    Cell; 1999 Oct; 99(2):143-53. PubMed ID: 10535733
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mechanisms of transcriptional repression of cell-cycle G2/M promoters by p63.
    Testoni B; Mantovani R
    Nucleic Acids Res; 2006; 34(3):928-38. PubMed ID: 16473849
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.
    Dianzani I; Garelli E; Gustavsson P; Carando A; Gustafsson B; Dahl N; Annerén G
    J Med Genet; 2003 Dec; 40(12):e133. PubMed ID: 14684701
    [No Abstract]   [Full Text] [Related]  

  • 18. The p63 gene in EEC and other syndromes.
    Brunner HG; Hamel BC; Van Bokhoven H
    J Med Genet; 2002 Jun; 39(6):377-81. PubMed ID: 12070241
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
    McGrath JA; Duijf PH; Doetsch V; Irvine AD; de Waal R; Vanmolkot KR; Wessagowit V; Kelly A; Atherton DJ; Griffiths WA; Orlow SJ; van Haeringen A; Ausems MG; Yang A; McKeon F; Bamshad MA; Brunner HG; Hamel BC; van Bokhoven H
    Hum Mol Genet; 2001 Feb; 10(3):221-9. PubMed ID: 11159940
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hay-Wells syndrome in a child with mutation in the TP73L gene.
    Garcia Bartels N; Neumann LM; Mleczko A; Rubach K; Peters H; Rossi R; Sterry W; Blume-Peytavi U
    J Dtsch Dermatol Ges; 2007 Oct; 5(10):919-23. PubMed ID: 17910675
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.