BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

556 related articles for article (PubMed ID: 15347331)

  • 1. Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes.
    Sahin MT; Türel-Ermertcan A; Chan I; McGrath JA; Oztürkcan S
    Clin Exp Dermatol; 2004 Sep; 29(5):486-8. PubMed ID: 15347331
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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. PubMed ID: 8305327
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.
    Knaudt B; Volz T; Krug M; Burgdorf W; Röcken M; Berneburg M
    Eur J Dermatol; 2012; 22(5):605-13. PubMed ID: 22759387
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Rapp-Hodgkin syndrome.
    Kim G; Shin H
    Dermatol Online J; 2004 Nov; 10(3):23. PubMed ID: 15748593
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Ectodermal dysplasias: the p63 tail.
    Tadini G; Santagada F; Brena M; Pezzani L; Nannini P
    G Ital Dermatol Venereol; 2013 Feb; 148(1):53-8. PubMed ID: 23407076
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Rapp-Hodgkin syndrome and the tail of p63.
    Chan I; McGrath JA; Kivirikko S
    Clin Exp Dermatol; 2005 Mar; 30(2):183-6. PubMed ID: 15725251
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Association of ectodermal dysplasia, cleft of the lip palate and "scrubbing-brush hair". Its situation in "D. E. F. syndromes" (ectodermal dysplasia, cleft of the lip and/or palate (author's transl)].
    Bonafé JL; Larrègue M; Nougué J; Lamon P
    Ann Dermatol Venereol; 1979 Dec; 106(12):989-93. PubMed ID: 533106
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Trichothiodystrophy: progresssive manifestations].
    Foulc P; Jumbou O; David A; Sarasin A; Stalder JF
    Ann Dermatol Venereol; 1999 Oct; 126(10):703-7. PubMed ID: 10604009
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
    Rinne T; Clements SE; Lamme E; Duijf PH; Bolat E; Meijer R; Scheffer H; Rosser E; Tan TY; McGrath JA; Schalkwijk J; Brunner HG; Zhou H; van Bokhoven H
    Hum Mol Genet; 2008 Jul; 17(13):1968-77. PubMed ID: 18364388
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 28.