-
1
-
-
77952420966
-
Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children
-
Cabral RM, Liu L, Hogan C et al. Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol 2010; 130:1543–50.
-
(2010)
J Invest Dermatol
, vol.130
, pp. 1543-1550
-
-
Cabral, R.M.1
Liu, L.2
Hogan, C.3
-
2
-
-
35348913125
-
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy
-
Asimaki A, Syrris P, Wichter T et al. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2007; 81:964–73.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 964-973
-
-
Asimaki, A.1
Syrris, P.2
Wichter, T.3
-
3
-
-
0034679297
-
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 et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355:2119–24.
-
(2000)
Lancet
, vol.355
, pp. 2119-2124
-
-
McKoy, G.1
Protonotarios, N.2
Crosby, A.3
-
4
-
-
53049093288
-
A woman with incidental findings of ventricular aneurysms and a desmosomal cardiomyopathy
-
Ly S, Marcus FI, Xu T, Towbin JA. A woman with incidental findings of ventricular aneurysms and a desmosomal cardiomyopathy. Heart Rhythm 2008; 5:1455–7.
-
(2008)
Heart Rhythm
, vol.5
, pp. 1455-1457
-
-
Ly, S.1
Marcus, F.I.2
Xu, T.3
Towbin, J.A.4
-
5
-
-
84867618972
-
Beyond cell adhesion: the role of armadillo proteins in the heart
-
Swope D, Li J, Radice GL. Beyond cell adhesion: the role of armadillo proteins in the heart. Cell Signal 2013; 25:93–100.
-
(2013)
Cell Signal
, vol.25
, pp. 93-100
-
-
Swope, D.1
Li, J.2
Radice, G.L.3
-
6
-
-
0034326902
-
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
-
Norgett EE, Hatsell SJ, Carvajal-Huerta L et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9:2761–6.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2761-2766
-
-
Norgett, E.E.1
Hatsell, S.J.2
Carvajal-Huerta, L.3
-
8
-
-
84925942763
-
The ARVD/C genetic variants database: 2014 update
-
Lazzarini E, Jongbloed JD, Pilichou K et al. The ARVD/C genetic variants database: 2014 update. Hum Mutat 2015; 36:403–10.
-
(2015)
Hum Mutat
, vol.36
, pp. 403-410
-
-
Lazzarini, E.1
Jongbloed, J.D.2
Pilichou, K.3
-
9
-
-
79954558531
-
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity
-
Pigors M, Kiritsi D, Krümpelmann S et al. Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet 2011; 20:1811–19.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1811-1819
-
-
Pigors, M.1
Kiritsi, D.2
Krümpelmann, S.3
-
10
-
-
77949908549
-
Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
den Haan AD, Tan BY, Zikusoka MN et al. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet 2009; 2:428–35.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 428-435
-
-
den Haan, A.D.1
Tan, B.Y.2
Zikusoka, M.N.3
-
11
-
-
75249083039
-
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy
-
Xu T, Yang Z, Vatta M et al. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2010; 55:587–97.
-
(2010)
J Am Coll Cardiol
, vol.55
, pp. 587-597
-
-
Xu, T.1
Yang, Z.2
Vatta, M.3
-
12
-
-
78149361865
-
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy
-
Christensen AH, Benn M, Bundgaard H et al. Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. J Med Genet 2010; 47:736–44.
-
(2010)
J Med Genet
, vol.47
, pp. 736-744
-
-
Christensen, A.H.1
Benn, M.2
Bundgaard, H.3
-
13
-
-
80053575074
-
Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation
-
Erken H, Yariz KO, Duman D et al. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. Br J Dermatol 2011; 165:917–21.
-
(2011)
Br J Dermatol
, vol.165
, pp. 917-921
-
-
Erken, H.1
Yariz, K.O.2
Duman, D.3
-
14
-
-
84892403838
-
Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy
-
Bao J, Wang J, Yao Y et al. Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy. Circ Cardiovasc Genet 2013; 6:552–6.
-
(2013)
Circ Cardiovasc Genet
, vol.6
, pp. 552-556
-
-
Bao, J.1
Wang, J.2
Yao, Y.3
|