Similar articles for PMID: 12875771

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1

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.

Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T. Alcalai R, et al. J Am Coll Cardiol. 2003 Jul 16;42(2):319-27. doi: 10.1016/s0735-1097(03)00628-4. J Am Coll Cardiol. 2003. PMID: 12875771 Free article.

2

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. McKoy G, et al. Lancet. 2000 Jun 17;355(9221):2119-24. doi: 10.1016/S0140-6736(00)02379-5. Lancet. 2000. PMID: 10902626

3

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. Keller DI, et al. Swiss Med Wkly. 2012 Sep 4;142:w13670. doi: 10.4414/smw.2012.13670. eCollection 2012. Swiss Med Wkly. 2012. PMID: 22949226 Free article.

4

Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin.

Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P. Protonotarios N, et al. J Am Coll Cardiol. 2001 Nov 1;38(5):1477-84. doi: 10.1016/s0735-1097(01)01568-6. J Am Coll Cardiol. 2001. PMID: 11691526 Free article.

5

Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.

Protonotarios N, Tsatsopoulou A. Protonotarios N, et al. Cardiovasc Pathol. 2004 Jul-Aug;13(4):185-94. doi: 10.1016/j.carpath.2004.03.609. Cardiovasc Pathol. 2004. PMID: 15210133 Review.

6

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP. Norgett EE, et al. Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/9.18.2761. Hum Mol Genet. 2000. PMID: 11063735

7

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. Al-Owain M, et al. Clin Genet. 2011 Jul;80(1):50-8. doi: 10.1111/j.1399-0004.2010.01518.x. Epub 2010 Jul 22. Clin Genet. 2011. PMID: 20738328

8

Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.

Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ. Norman M, et al. Circulation. 2005 Aug 2;112(5):636-42. doi: 10.1161/CIRCULATIONAHA.104.532234. Circulation. 2005. PMID: 16061754

9

Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.

Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA. Rampazzo A, et al. Am J Hum Genet. 2002 Nov;71(5):1200-6. doi: 10.1086/344208. Epub 2002 Oct 8. Am J Hum Genet. 2002. PMID: 12373648 Free PMC article.

10

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. Molho-Pessach V, et al. Pediatr Dermatol. 2015 Sep-Oct;32(5):641-6. doi: 10.1111/pde.12541. Epub 2015 Mar 30. Pediatr Dermatol. 2015. PMID: 25824144

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