-
1
-
-
0037903275
-
Human gene mutation database (HGMD) 2003 update
-
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. Human gene mutation database (HGMD): 2003 update. Hum Mutat 2003;21:577-581.
-
(2003)
Hum Mutat
, vol.21
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
Phillips, A.D.4
Shiel, J.A.5
Thomas, N.S.6
Abeysinghe, S.7
Krawczak, M.8
Cooper, D.N.9
-
2
-
-
69249236883
-
Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency
-
Marston S, Copeland O, Jacques A, Livesey K, Tsang V, McKenna WJ, Jalilzadeh S, Carballo S, Redwood C, Watkins H. Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. Circ Res 2009;105:219-222.
-
(2009)
Circ Res
, vol.105
, pp. 219-222
-
-
Marston, S.1
Copeland, O.2
Jacques, A.3
Livesey, K.4
Tsang, V.5
McKenna, W.J.6
Jalilzadeh, S.7
Carballo, S.8
Redwood, C.9
Watkins, H.10
-
3
-
-
64949138383
-
Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: Haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction
-
van Dijk SJ, Dooijes D, dos Remedios C, Michels M, Lamers JM, Winegrad S, Schlossarek S, Carrier L, ten Cate FJ, Stienen GJ, van der Velden J. Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: Haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction. Circulation 2009;119:1473-1483.
-
(2009)
Circulation
, vol.119
, pp. 1473-1483
-
-
Van Dijk, S.J.1
Dooijes, D.2
Dos Remedios, C.3
Michels, M.4
Lamers, J.M.5
Winegrad, S.6
Schlossarek, S.7
Carrier, L.8
Ten Cate, F.J.9
Stienen, G.J.10
Van Der Velden, J.11
-
4
-
-
0032580520
-
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
-
Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998;338:1248-1257.
-
(1998)
N Engl J Med
, vol.338
, pp. 1248-1257
-
-
Niimura, H.1
Bachinski, L.L.2
Sangwatanaroj, S.3
Watkins, H.4
Chudley, A.E.5
McKenna, W.6
Kristinsson, A.7
Roberts, R.8
Sole, M.9
Maron, B.J.10
Seidman, J.G.11
Seidman, C.E.12
-
5
-
-
56649116133
-
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene
-
Ehlermann P, Weichenhan D, Zehelein J, Steen H, Pribe R, Zeller R, Lehrke S, Zugck C, Ivandic BT, Katus HA. Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. BMC Med Genet 2008;9:95.
-
(2008)
BMC Med Genet
, vol.9
, pp. 95
-
-
Ehlermann, P.1
Weichenhan, D.2
Zehelein, J.3
Steen, H.4
Pribe, R.5
Zeller, R.6
Lehrke, S.7
Zugck, C.8
Ivandic, B.T.9
Katus, H.A.10
-
6
-
-
77952158022
-
The genetics of dilated cardiomyopathy
-
Dellefave L, McNally EM. The genetics of dilated cardiomyopathy. Curr Opin Cardiol 2010;25:198-204.
-
(2010)
Curr Opin Cardiol
, vol.25
, pp. 198-204
-
-
Dellefave, L.1
McNally, E.M.2
-
7
-
-
67650086729
-
The biomaterialbank of the German competence network of heart failure (CNHF) is a valuable resource for biomedical and genetic research
-
Posch MG, Gelbrich G, Pieske B, Lehmkuhl E, Angermann CE, Stork S, Neumann T, Dungen HD, Scheffold T, Muller-Tasch T, Maisch B, Rauchhaus M, Dietz R, Ozcelik C. The biomaterialbank of the German competence network of heart failure (CNHF) is a valuable resource for biomedical and genetic research. Int J Cardiol 2009;136:108-111.
-
(2009)
Int J Cardiol
, vol.136
, pp. 108-111
-
-
Posch, M.G.1
Gelbrich, G.2
Pieske, B.3
Lehmkuhl, E.4
Angermann, C.E.5
Stork, S.6
Neumann, T.7
Dungen, H.D.8
Scheffold, T.9
Muller-Tasch, T.10
Maisch, B.11
Rauchhaus, M.12
Dietz, R.13
Ozcelik, C.14
-
8
-
-
42449107772
-
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy
-
Waldmüller S, Müller M, Rackebrandt K, Binner P, Poths S, Bonin M, Scheffold T. Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. Clin Chem 2008;54:682-687.
-
(2008)
Clin Chem
, vol.54
, pp. 682-687
-
-
Waldmüller, S.1
Müller, M.2
Rackebrandt, K.3
Binner, P.4
Poths, S.5
Bonin, M.6
Scheffold, T.7
-
9
-
-
16344385637
-
Sarcomeric genotyping in hypertrophic cardiomyopathy
-
Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin Proc. 2005;80:463-469.
-
(2005)
Mayo Clin Proc
, vol.80
, pp. 463-469
-
-
Van Driest, S.L.1
Ommen, S.R.2
Tajik, A.J.3
Gersh, B.J.4
Ackerman, M.J.5
-
10
-
-
77956941980
-
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy
-
Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R. Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. Eur J Med Genet 2010;53:261-267.
-
(2010)
Eur J Med Genet
, vol.53
, pp. 261-267
-
-
Millat, G.1
Bouvagnet, P.2
Chevalier, P.3
Dauphin, C.4
Jouk, P.S.5
Da Costa, A.6
Prieur, F.7
Bresson, J.L.8
Faivre, L.9
Eicher, J.C.10
Chassaing, N.11
Crehalet, H.12
Porcher, R.13
Rodriguez-Lafrasse, C.14
Rousson, R.15
-
11
-
-
44949259297
-
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy
-
Olivotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, Zachara E, Ommen SR, Theis JL, Vaubel RA, Re F, Armentano C, Poggesi C, Torricelli F, Cecchi F. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc 2008;83:630-638.
-
(2008)
Mayo Clin Proc
, vol.83
, pp. 630-638
-
-
Olivotto, I.1
Girolami, F.2
Ackerman, M.J.3
Nistri, S.4
Bos, J.M.5
Zachara, E.6
Ommen, S.R.7
Theis, J.L.8
Vaubel, R.A.9
Re, F.10
Armentano, C.11
Poggesi, C.12
Torricelli, F.13
Cecchi, F.14
-
12
-
-
33645655544
-
Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: Septal morphological features predict the presence of myofilament mutations
-
Binder J, Ommen SR, Gersh BJ, Van Driest SL, Tajik AJ, Nishimura RA, Ackerman MJ. Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: Septal morphological features predict the presence of myofilament mutations. Mayo Clin Proc. 2006;81:459-467.
-
Mayo Clin Proc
, vol.2006
, Issue.81
, pp. 459-467
-
-
Binder, J.1
Ommen, S.R.2
Gersh, B.J.3
Van Driest, S.L.4
Tajik, A.J.5
Nishimura, R.A.6
Ackerman, M.J.7
-
13
-
-
77954334172
-
-
Gandjbakhch E, Gackowski A, Tezenas du Montcel S, Isnard R, Hamroun A, Richard P, Komajda M, Charron P. Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging. Eur Heart J 2010;31:1599-1607.
-
(2010)
Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging. Eur Heart J.
, vol.31
, pp. 1599-1607
-
-
Gandjbakhch, E.1
Gackowski, A.2
Tezenas Du Montcel, S.3
Isnard, R.4
Hamroun, A.5
Richard, P.6
Komajda, M.7
Charron, P.8
-
14
-
-
77953023261
-
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy
-
Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet 2010;3:155-161.
-
(2010)
Circ Cardiovasc Genet
, vol.3
, pp. 155-161
-
-
Hershberger, R.E.1
Norton, N.2
Morales, A.3
Li, D.4
Siegfried, J.D.5
Gonzalez-Quintana, J.6
-
15
-
-
45649083874
-
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
-
Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS, Hershberger RE. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J 2008;156:161-169.
-
(2008)
Am Heart J.
, vol.156
, pp. 161-169
-
-
Parks, S.B.1
Kushner, J.D.2
Nauman, D.3
Burgess, D.4
Ludwigsen, S.5
Peterson, A.6
Li, D.7
Jakobs, P.8
Litt, M.9
Porter, C.B.10
Rahko, P.S.11
Hershberger, R.E.12
-
16
-
-
57949113000
-
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy
-
Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Bohm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C. Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. Basic Res Cardiol 2009;104:90-99.
-
(2009)
Basic Res Cardiol
, vol.104
, pp. 90-99
-
-
Perrot, A.1
Hussein, S.2
Ruppert, V.3
Schmidt, H.H.4
Wehnert, M.S.5
Duong, N.T.6
Posch, M.G.7
Panek, A.8
Dietz, R.9
Kindermann, I.10
Bohm, M.11
Michalewska-Wludarczyk, A.12
Richter, A.13
Maisch, B.14
Pankuweit, S.15
Ozcelik, C.16
-
17
-
-
12444270692
-
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy
-
Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet 2003;64:339-349.
-
(2003)
Clin Genet
, vol.64
, pp. 339-349
-
-
Erdmann, J.1
Daehmlow, S.2
Wischke, S.3
Senyuva, M.4
Werner, U.5
Raible, J.6
Tanis, N.7
Dyachenko, S.8
Hummel, M.9
Hetzer, R.10
Regitz-Zagrosek, V.11
-
18
-
-
37349023159
-
Cardiac myosin-binding protein C is required for complete relaxation in intact myocytes
-
Pohlmann L, Kroger I, Vignier N, Schlossarek S, Kramer E, Coirault C, Sultan KR, El-Armouche A, Winegrad S, Eschenhagen T, Carrier L. Cardiac myosin-binding protein C is required for complete relaxation in intact myocytes. Circ Res 2007; 101:928-938.
-
(2007)
Circ Res
, vol.101
, pp. 928-938
-
-
Pohlmann, L.1
Kroger, I.2
Vignier, N.3
Schlossarek, S.4
Kramer, E.5
Coirault, C.6
Sultan, K.R.7
El-Armouche, A.8
Winegrad, S.9
Eschenhagen, T.10
Carrier, L.11
-
20
-
-
0030715360
-
Factors predisposing to the development of atrial fibrillation
-
Levy S. Factors predisposing to the development of atrial fibrillation. Pacing Clin Electrophysiol 1997;20(10 Pt 2):2670-2674.
-
(1997)
Pacing Clin Electrophysiol
, vol.20
, Issue.10 PART 2
, pp. 2670-2674
-
-
Levy, S.1
-
21
-
-
0037438614
-
Maximum left ventricular thickness and risk of sudden death in patients with hypertrophic cardiomyopathy
-
Olivotto I, Gistri R, Petrone P, Pedemonte E, Vargiu D, Cecchi F. Maximum left ventricular thickness and risk of sudden death in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2003;41:315-321.
-
(2003)
J Am Coll Cardiol
, vol.41
, pp. 315-321
-
-
Olivotto, I.1
Gistri, R.2
Petrone, P.3
Pedemonte, E.4
Vargiu, D.5
Cecchi, F.6
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