176 related articles for article (PubMed ID: 30944905)
1. Novel desmoplakin mutations in familial Carvajal syndrome.
Yermakovich D; Sivitskaya L; Vaikhanskaya T; Danilenko N; Motuk I
Acta Myol; 2018 Dec; 37(4):263-266. PubMed ID: 30944905
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Arrhythmogenic right ventricular dysplasia, cutaneous manifestations and desmoplakin mutation: Carvajal syndrome.
Erolu E; Akalın F; Saylan Çevik B; Yücelten D
Pediatr Int; 2018 Oct; 60(10):987-989. PubMed ID: 30345701
[No Abstract] [Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease.
Keller DI; Stepowski D; Balmer C; Simon F; Guenthard J; Bauer F; Itin P; David N; Drouin-Garraud V; Fressart V
Swiss Med Wkly; 2012; 142():w13670. PubMed ID: 22949226
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl.
Akdogan N; Incel-Uysal P; Cavdarli B; Topcu V; Yalcin B
Int J Dermatol; 2019 May; 58(5):611-613. PubMed ID: 30079965
[No Abstract] [Full Text] [Related]
18. Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.
Antonov NK; Kingsbery MY; Rohena LO; Lee TM; Christiano A; Garzon MC; Lauren CT
Pediatr Dermatol; 2015; 32(1):102-8. PubMed ID: 25516398
[TBL] [Abstract][Full Text] [Related]
19. A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.
Ou S; Cesarato N; Mauran P; Gellé MP; Thiele H; Betz RC; Viguier M; Gusdorf L
Clin Exp Dermatol; 2022 Jul; 47(7):1424-1426. PubMed ID: 35574671
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
