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 *

245 related articles for article (PubMed ID: 16628197)

  • 1. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.
    Norgett EE; Lucke TW; Bowers B; Munro CS; Leigh IM; Kelsell DP
    J Invest Dermatol; 2006 Jul; 126(7):1651-4. PubMed ID: 16628197
    [No Abstract]   [Full Text] [Related]  

  • 2. Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.
    Pigors M; Schwieger-Briel A; Cosgarea R; Diaconeasa A; Bruckner-Tuderman L; Fleck T; Has C
    Acta Derm Venereol; 2015 Mar; 95(3):337-40. PubMed ID: 25227139
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
    Maruthappu T; Posafalvi A; Castelletti S; Delaney PJ; Syrris P; O'Toole EA; Green KJ; Elliott PM; Lambiase PD; Tinker A; McKenna WJ; Kelsell DP
    Br J Dermatol; 2019 May; 180(5):1114-1122. PubMed ID: 30382575
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
    Williams T; Machann W; Kühler L; Hamm H; Müller-Höcker J; Zimmer M; Ertl G; Ritter O; Beer M; Schönberger J
    Clin Res Cardiol; 2011 Dec; 100(12):1087-93. PubMed ID: 21789513
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.
    Guerra L; Magliozzi M; Baban A; Di Mambro C; Di Zenzo G; Novelli A; El Hachem M; Zambruno G; Castiglia D
    Acta Derm Venereol; 2019 Jul; 99(9):831-832. PubMed ID: 31073624
    [No Abstract]   [Full Text] [Related]  

  • 6. Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.
    Boulé S; Fressart V; Laux D; Mallet A; Simon F; de Groote P; Bonnet D; Klug D; Charron P
    Int J Cardiol; 2012 Nov; 161(1):50-2. PubMed ID: 22795705
    [No Abstract]   [Full Text] [Related]  

  • 7. A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.
    Chalabreysse L; Senni F; Bruyère P; Aime B; Ollagnier C; Bozio A; Bouvagnet P
    J Dent Res; 2011 Jan; 90(1):58-64. PubMed ID: 20940358
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications.
    Alonso-Orgaz S; Zamorano-León JJ; Fernandez-Arquero M; Villacastín J; Perez-Castellanos N; García-Torrent MJ; Macaya C; López Farré AJ
    Int J Cardiol; 2007 May; 118(2):275-7. PubMed ID: 17045679
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis.
    Bitar F; Najjar T; Hayashi R; Nemer G; Shigehara Y; Hamie L; Abbas O; Kibbi AG; Shimomura Y; Kurban M
    J Eur Acad Dermatol Venereol; 2016 Dec; 30(12):e217-e219. PubMed ID: 26833927
    [No Abstract]   [Full Text] [Related]  

  • 10. Mutation in the SR6 region of desmoplakin is associated with pustular psoriasiform rash and left ventricular dysfunction.
    Tayeh C; Al-Hage J; Bitar F; Nemer G; Abbas O; Kurban M
    Int J Dermatol; 2019 Jun; 58(6):742-744. PubMed ID: 30229874
    [No Abstract]   [Full Text] [Related]  

  • 11. Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene.
    Krishnamurthy S; Adhisivam B; Hamilton RM; Baskin B; Biswal N; Kumar M
    Indian J Pediatr; 2011 Jul; 78(7):866-9. PubMed ID: 21193976
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome.
    Molho-Pessach V; Sheffer S; Siam R; Tams S; Siam I; Awwad R; Babay S; Golender J; Simanovsky N; Ramot Y; Zlotogorski A
    Pediatr Dermatol; 2015; 32(5):641-6. PubMed ID: 25824144
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
    McKoy G; Protonotarios N; Crosby A; Tsatsopoulou A; Anastasakis A; Coonar A; Norman M; Baboonian C; Jeffery S; McKenna WJ
    Lancet; 2000 Jun; 355(9221):2119-24. PubMed ID: 10902626
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
    Al-Owain M; Wakil S; Shareef F; Al-Fatani A; Hamadah E; Haider M; Al-Hindi H; Awaji A; Khalifa O; Baz B; Ramadhan R; Meyer B
    Clin Genet; 2011 Jul; 80(1):50-8. PubMed ID: 20738328
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation.
    Erken H; Yariz KO; Duman D; Kaya CT; Sayin T; Heper AO; Tekin M
    Br J Dermatol; 2011 Oct; 165(4):917-21. PubMed ID: 21668431
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.
    Rasmussen TB; Hansen J; Nissen PH; Palmfeldt J; Dalager S; Jensen UB; Kim WY; Heickendorff L; Mølgaard H; Jensen HK; Sørensen KE; Baandrup UT; Bross P; Mogensen J
    Clin Genet; 2013 Jul; 84(1):20-30. PubMed ID: 23137101
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome.
    Ramoğlu MG; Uçar T; Ceylaner S; Atalay S; Tutar E
    Anatol J Cardiol; 2017 Dec; 18(6):435-436. PubMed ID: 29256881
    [No Abstract]   [Full Text] [Related]  

  • 18. Evidence for genetic heterogeneity in Carvajal syndrome.
    Nehme N; El Malti R; Roux-Buisson N; Caignault JR; Bouvagnet P
    Cell Tissue Res; 2012 May; 348(2):261-4. PubMed ID: 22350851
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.
    Herbert Pratt C; Potter CS; Fairfield H; Reinholdt LG; Bergstrom DE; Harris BS; Greenstein I; Dadras SS; Liang BT; Schofield PN; Sundberg JP
    Exp Mol Pathol; 2015 Apr; 98(2):164-72. PubMed ID: 25659760
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review.
    Santos-Ferreira C; Baptista R; Teixeira T; Gonçalves L
    BMC Cardiovasc Disord; 2022 Feb; 22(1):41. PubMed ID: 35151254
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.