-
1
-
-
42649092901
-
Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
Awad MM, Calkins H, Judge DP. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med 2008: 5: 258-267.
-
(2008)
Nat Clin Pract Cardiovasc Med
, vol.5
, pp. 258-267
-
-
Awad, M.M.1
Calkins, H.2
Judge, D.P.3
-
2
-
-
0028347223
-
Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the working group myocardial and pericardial disease of the European Society of Cardiology and of the scientific council on cardiomyopathies of the International Society and Federation of Cardiology
-
McKenna WJ, Thiene G, Nava A et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the working group myocardial and pericardial disease of the European Society of Cardiology and of the scientific council on cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J 1994: 71: 215-218.
-
(1994)
Br Heart J
, vol.71
, pp. 215-218
-
-
McKenna, W.J.1
Thiene, G.2
Nava, A.3
-
3
-
-
75249096712
-
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria
-
Marcus FI, McKenna WJ, Sherrill D et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 2010: 121: 1533-1541.
-
(2010)
Circulation
, vol.121
, pp. 1533-1541
-
-
Marcus, F.I.1
McKenna, W.J.2
Sherrill, D.3
-
4
-
-
79957978324
-
Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society join position paper
-
Gollob MH, Blier L, Brugada R et al. Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society join position paper. Can J Cardiol 2011: 27: 232-245.
-
(2011)
Can J Cardiol
, vol.27
, pp. 232-245
-
-
Gollob, M.H.1
Blier, L.2
Brugada, R.3
-
5
-
-
79957975773
-
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise
-
Kapplinger JD, Landstrom AP, Salisbury BA et al. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol 2011: 57: 2317-2327.
-
(2011)
J Am Coll Cardiol
, vol.57
, pp. 2317-2327
-
-
Kapplinger, J.D.1
Landstrom, A.P.2
Salisbury, B.A.3
-
6
-
-
79961129430
-
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy
-
Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH. Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. Clin Genet 2011: 80: 256-264.
-
(2011)
Clin Genet
, vol.80
, pp. 256-264
-
-
Christensen, A.H.1
Andersen, C.B.2
Tybjaerg-Hansen, A.3
Haunso, S.4
Svendsen, J.H.5
-
7
-
-
70350474285
-
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene
-
van Tintelen JP, Van Gelder IC, Asimaki A et al. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. Heart Rhythm 2009: 6: 1574-1583.
-
(2009)
Heart Rhythm
, vol.6
, pp. 1574-1583
-
-
van Tintelen, J.P.1
Van Gelder, I.C.2
Asimaki, A.3
-
8
-
-
80052168218
-
Genetic variation in Titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes
-
Taylor M, Graw S, Sinagra G et al. Genetic variation in Titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation 2011: 124: 876-885.
-
(2011)
Circulation
, vol.124
, pp. 876-885
-
-
Taylor, M.1
Graw, S.2
Sinagra, G.3
-
9
-
-
84867736080
-
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy
-
in press.
-
van der Zwaag PA, van Rijsingen IAW, Asimaki A et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail 2012 in press.
-
(2012)
Eur J Heart Fail
-
-
van der Zwaag, P.A.1
van Rijsingen, I.A.W.2
Asimaki, A.3
-
10
-
-
79959569308
-
Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria
-
Quarta G, Muir A, Pantazis A et al. Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. Circulation 2011: 123: 2701-2709.
-
(2011)
Circulation
, vol.123
, pp. 2701-2709
-
-
Quarta, G.1
Muir, A.2
Pantazis, A.3
-
11
-
-
34347339520
-
Methods and strategies for analyzing copy number variation using DNA microarrays
-
Carter NP. Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet 2007: 39 (Suppl. 7): S16-S21.
-
(2007)
Nat Genet
, vol.39
, Issue.SUPPL. 7
-
-
Carter, N.P.1
-
12
-
-
2342578875
-
MLPA and MAPH: new techniques for detection of gene deletions
-
Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004: 23: 413-419.
-
(2004)
Hum Mutat
, vol.23
, pp. 413-419
-
-
Sellner, L.N.1
Taylor, G.R.2
-
13
-
-
79959568500
-
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study
-
Cox M, van der Zwaag PA, van der Werf C et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. Circulation 2011: 123: 2690-2700.
-
(2011)
Circulation
, vol.123
, pp. 2690-2700
-
-
Cox, M.1
van der Zwaag, P.A.2
van der Werf, C.3
-
14
-
-
79959497266
-
A 10.46Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism
-
155A
-
Soysal Y, Vermeesch J, Davani NA, Hekimler K, Imirzalioglu N. A 10.46Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism. Am J Med Genet A 2011: 155A (7): 1745-1752.
-
(2011)
Am J Med Genet A
, Issue.7
, pp. 1745-1752
-
-
Soysal, Y.1
Vermeesch, J.2
Davani, N.A.3
Hekimler, K.4
Imirzalioglu, N.5
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