-
2
-
-
0035378612
-
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
-
Hoffmann B, Schmidt-Traub H, Perrot A, Osterziel KJ, Gessner R. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum Mutat 2001; 17:524.
-
(2001)
Hum Mutat
, vol.17
, pp. 524
-
-
Hoffmann, B.1
Schmidt-Traub, H.2
Perrot, A.3
Osterziel, K.J.4
Gessner, R.5
-
3
-
-
0034976642
-
The molecular genetic basis for hypertrophic cardiomyopathy
-
Marian AJ, Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol 2001;33: 655-70.
-
(2001)
J Mol Cell Cardiol
, vol.33
, pp. 655-670
-
-
Marian, A.J.1
Roberts, R.2
-
4
-
-
0037192339
-
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly
-
Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 2002; 105:446-51.
-
(2002)
Circulation
, vol.105
, pp. 446-451
-
-
Niimura, H.1
Patton, K.K.2
McKenna, W.J.3
Soults, J.4
Maron, B.J.5
Seidman, J.G.6
-
5
-
-
0032428460
-
Molecular genetic studies of familial hypertrophic cardiomyopathy
-
Seidman CE, Seidman JG. Molecular genetic studies of familial hypertrophic cardiomyopathy. Basic Res Cardiol 1998;93:13-6.
-
(1998)
Basic Res Cardiol
, vol.93
, pp. 13-16
-
-
Seidman, C.E.1
Seidman, J.G.2
-
6
-
-
0033610050
-
Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene
-
Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun 1999;262:411-7.
-
(1999)
Biochem Biophys Res Commun
, vol.262
, pp. 411-417
-
-
Satoh, M.1
Takahashi, M.2
Sakamoto, T.3
Hiroe, M.4
Marumo, F.5
Kimura, A.6
-
7
-
-
0033754705
-
The molecular genetics of hypertrophic cardiomyopathy: Prognostic implications
-
Sorajja P, Elliott PM, McKenna WJ. The molecular genetics of hypertrophic cardiomyopathy: prognostic implications. Europace 2000;2:4-14.
-
(2000)
Europace
, vol.2
, pp. 4-14
-
-
Sorajja, P.1
Elliott, P.M.2
McKenna, W.J.3
-
8
-
-
0027507885
-
Disease gene mapping in isolated human populations: The example of Finland
-
de la Chapelle A. Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 1993;30: 857-65.
-
(1993)
J Med Genet
, vol.30
, pp. 857-865
-
-
De La Chapelle, A.1
-
9
-
-
0032869123
-
Molecular genetics of the Finnish disease heritage
-
Peltonen L, Jalanko A, Varilo T. Molecular genetics of the Finnish disease heritage. Hum Mol Genet 1999;8:1913-23.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1913-1923
-
-
Peltonen, L.1
Jalanko, A.2
Varilo, T.3
-
10
-
-
0035134718
-
A founder mutation of the potassium channel KCNQ1 in long QT syndrome: Implications for estimation of disease prevalence and molecular diagnostics
-
Piippo K, Swan H, Pasternack M, Chapman H, Paavonen K, Viitasalo M, et al. A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. J Am Coll Cardiol 2001;37:562-8.
-
(2001)
J Am Coll Cardiol
, vol.37
, pp. 562-568
-
-
Piippo, K.1
Swan, H.2
Pasternack, M.3
Chapman, H.4
Paavonen, K.5
Viitasalo, M.6
-
11
-
-
0027504548
-
Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy
-
Watkins H, Thierfelder L, Anan R, Jarcho J, Matsumori A, McKenna W, et al. Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. Am J Hum Genet 1993;53:1180-5.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1180-1185
-
-
Watkins, H.1
Thierfelder, L.2
Anan, R.3
Jarcho, J.4
Matsumori, A.5
McKenna, W.6
-
12
-
-
0033361790
-
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: A unique profile of both independent and founder events
-
Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA. The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. Am J Hum Genet 1999;65:1308-20.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1308-1320
-
-
Moolman-Smook, J.C.1
De Lange, W.J.2
Bruwer, E.C.3
Brink, P.A.4
Corfield, V.A.5
-
13
-
-
0033851630
-
Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy
-
Richard P, Charron P, Leclercq C, Ledeuil C, Carrier L, Dubourg O, et al. Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 2000;32: 1575-83.
-
(2000)
J Mol Cell Cardiol
, vol.32
, pp. 1575-1583
-
-
Richard, P.1
Charron, P.2
Leclercq, C.3
Ledeuil, C.4
Carrier, L.5
Dubourg, O.6
-
14
-
-
0034502475
-
Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene
-
Enjuto M, Francino A, Navarro-Lopez F, Viles D, Pare JC, Ballesta AM. Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene. J Mol Cell Cardiol 2000;32:2307-13.
-
(2000)
J Mol Cell Cardiol
, vol.32
, pp. 2307-2313
-
-
Enjuto, M.1
Francino, A.2
Navarro-Lopez, F.3
Viles, D.4
Pare, J.C.5
Ballesta, A.M.6
-
15
-
-
0028886136
-
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
-
Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995;11:438-40.
-
(1995)
Nat Genet
, vol.11
, pp. 438-440
-
-
Bonne, G.1
Carrier, L.2
Bercovici, J.3
Cruaud, C.4
Richard, P.5
Hainque, B.6
-
16
-
-
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, et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998;338:1248-57.
-
(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
-
17
-
-
0034907103
-
Spectrum of clinical phenotypes and gene variants in cardiac myosin- binding protein C mutation carriers with hypertrophic cardiomyopathy
-
Erdmann J, Raible J, Maki-Abadi J, Hummel M, Hammann J, Wollnik B, et al. Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J Am Coll Cardiol 2001;38:322-30.
-
(2001)
J Am Coll Cardiol
, vol.38
, pp. 322-330
-
-
Erdmann, J.1
Raible, J.2
Maki-Abadi, J.3
Hummel, M.4
Hammann, J.5
Wollnik, B.6
-
18
-
-
0032483037
-
Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis
-
Anan R, Shono H, Kisanuki A, Arima S, Nakao S, Tanaka H. Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis. Circulation 1998;98:391-7.
-
(1998)
Circulation
, vol.98
, pp. 391-397
-
-
Anan, R.1
Shono, H.2
Kisanuki, A.3
Arima, S.4
Nakao, S.5
Tanaka, H.6
-
19
-
-
0344878860
-
The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population
-
Jääskeläinen P, Soranta M, Miettinen R, Saarinen L, Pihlajamäki J, Silvennoinen K, et al. The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population. J Am Coll Cardiol 1998;32:1709-16.
-
(1998)
J Am Coll Cardiol
, vol.32
, pp. 1709-1716
-
-
Jääskeläinen, P.1
Soranta, M.2
Miettinen, R.3
Saarinen, L.4
Pihlajamäki, J.5
Silvennoinen, K.6
-
20
-
-
0036019515
-
Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland
-
Jääskeläinen P, Kuusisto J, Miettinen R, Kärkkäinen P, Kärkkäinen S, Heikkinen S, et al. Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland. J Mol Med 2002;80:412-22.
-
(2002)
J Mol Med
, vol.80
, pp. 412-422
-
-
Jääskeläinen, P.1
Kuusisto, J.2
Miettinen, R.3
Kärkkäinen, P.4
Kärkkäinen, S.5
Heikkinen, S.6
-
21
-
-
0344146553
-
The cardiac troponin I gene is not associated with hypertrophic cardiomyopathy in patients from eastern Finland
-
Jääskeläinen P, Miettinen R, Silvennoinen K, Vauhkonen I, Laakso M, Kuusisto J. The cardiac troponin I gene is not associated with hypertrophic cardiomyopathy in patients from eastern Finland. J Mol Cell Cardiol 1999;31:2031-6.
-
(1999)
J Mol Cell Cardiol
, vol.31
, pp. 2031-2036
-
-
Jääskeläinen, P.1
Miettinen, R.2
Silvennoinen, K.3
Vauhkonen, I.4
Laakso, M.5
Kuusisto, J.6
-
22
-
-
0036593250
-
No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy
-
Kärkkäinen S, Peuhkurinen K, Jääskeläinen P, Miettinen R, Kärkkäinen P, Kuusisto J, et al. No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy. Am Heart J 2002;143:11-4.
-
(2002)
Am Heart J
, vol.143
, pp. 11-14
-
-
Kärkkäinen, S.1
Peuhkurinen, K.2
Jääskeläinen, P.3
Miettinen, R.4
Kärkkäinen, P.5
Kuusisto, J.6
-
23
-
-
0031049263
-
Experience from clinical genetics in hypertrophic cardiomyopathy: Proposal for new diagnostic criteria in adult members of affected families
-
McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M. Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 1997;77:130-2.
-
(1997)
Heart
, vol.77
, pp. 130-132
-
-
McKenna, W.J.1
Spirito, P.2
Desnos, M.3
Dubourg, O.4
Komajda, M.5
-
24
-
-
0027954269
-
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
-
Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, et al. Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest 1994;93:280-5.
-
(1994)
J Clin Invest
, vol.93
, pp. 280-285
-
-
Anan, R.1
Greve, G.2
Thierfelder, L.3
Watkins, H.4
McKenna, W.J.5
Solomon, S.6
-
25
-
-
0028178083
-
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
-
Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-12.
-
(1994)
Cell
, vol.77
, pp. 701-712
-
-
Thierfelder, L.1
Watkins, H.2
MacRae, C.3
Lamas, R.4
McKenna, W.5
Vosberg, H.P.6
-
26
-
-
1242266010
-
Sarcomere gene mutations in 49 Danish families with familial hypertrophic cardiomyopathy
-
Havndrup O, Bundgaard H, Andersen PS, Larsen LA, Vuust J, Mogensen J, et al. Sarcomere gene mutations in 49 Danish families with familial hypertrophic cardiomyopathy (Abstract). Eur Heart J 2000;21:13.
-
(2000)
Eur Heart J
, vol.21
, pp. 13
-
-
Havndrup, O.1
Bundgaard, H.2
Andersen, P.S.3
Larsen, L.A.4
Vuust, J.5
Mogensen, J.6
-
27
-
-
0010886984
-
Distribution of disease genes in 102 genotyped families with hypertrophic cardiomypathy
-
Richard P, Charron P, Carrier L, Ledeuil C, Dubourg O, Desnos M, et al. Distribution of disease genes in 102 genotyped families with hypertrophic cardiomypathy (Abstract). Eur Heart J 2001;22:635.
-
(2001)
Eur Heart J
, vol.22
, pp. 635
-
-
Richard, P.1
Charron, P.2
Carrier, L.3
Ledeuil, C.4
Dubourg, O.5
Desnos, M.6
-
28
-
-
0010997239
-
Mutation spectrum in six disease genes in a large cohort of index patients with hypertrophic cardiomyopathy
-
Regitz-Zagrosek V, Erdmann J, Tanis N, Senyuva M, Werner U, Raible J, et al. Mutation spectrum in six disease genes in a large cohort of index patients with hypertrophic cardiomyopathy (Abstract). Circulation 2001;104 (supplement):II-521.
-
(2001)
Circulation
, vol.104
, Issue.SUPPL.
-
-
Regitz-Zagrosek, V.1
Erdmann, J.2
Tanis, N.3
Senyuva, M.4
Werner, U.5
Raible, J.6
-
29
-
-
0035235730
-
Molecular etiology of idiopathic cardiomyopathy in Asian populations
-
Kimura A, Ito-Satoh M, Hayashi T, Takahashi M, Arimura T. Molecular etiology of idiopathic cardiomyopathy in Asian populations. J Cardiol 2001;37:139-46.
-
(2001)
J Cardiol
, vol.37
, pp. 139-146
-
-
Kimura, A.1
Ito-Satoh, M.2
Hayashi, T.3
Takahashi, M.4
Arimura, T.5
-
31
-
-
0038125906
-
Indentification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden
-
Mörner S, Richard P, Kazzam E, Hellman U, Hainque B, Söchwartz K, et al. Indentification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J Mol Cell Cardiol 2003;35:841-9.
-
(2003)
J Mol Cell Cardiol
, vol.35
, pp. 841-849
-
-
Mörner, S.1
Richard, P.2
Kazzam, E.3
Hellman, U.4
Hainque, B.5
Söchwartz, K.6
-
32
-
-
0028902929
-
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy
-
Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995;332:1058-64.
-
(1995)
N Engl J Med
, vol.332
, pp. 1058-1064
-
-
Watkins, H.1
McKenna, W.J.2
Thierfelder, L.3
Suk, H.J.4
Anan, R.5
O'Donoghue, A.6
-
33
-
-
0032499634
-
Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene
-
Charron P, Dubourg O, Desnos M, Bennaceur M, Carrier L, Camproux AC, et al. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation 1998;97:2230-6.
-
(1998)
Circulation
, vol.97
, pp. 2230-2236
-
-
Charron, P.1
Dubourg, O.2
Desnos, M.3
Bennaceur, M.4
Carrier, L.5
Camproux, A.C.6
-
34
-
-
0031042881
-
Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene
-
Coviello DA, Maron BJ, Spirito P, Watkins H, Vosberg HP, Thierfelder L, et al. Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene. J Am Coll Cardiol 1997;29:635-40.
-
(1997)
J Am Coll Cardiol
, vol.29
, pp. 635-640
-
-
Coviello, D.A.1
Maron, B.J.2
Spirito, P.3
Watkins, H.4
Vosberg, H.P.5
Thierfelder, L.6
-
35
-
-
0037155048
-
Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy
-
Blair E, Redwood C, de Jesus Oliveira M, Moolman-Smook JC, Brink P, Corfield VA, et al. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res 2002;90:263-9.
-
(2002)
Circ Res
, vol.90
, pp. 263-269
-
-
Blair, E.1
Redwood, C.2
De Jesus Oliveira, M.3
Moolman-Smook, J.C.4
Brink, P.5
Corfield, V.A.6
-
36
-
-
0028818347
-
Hypertrophic cardiomyopathy in Tuscany: Clinical course and outcome in an unselected regional population
-
Cecchi F, Olivotto I, Montereggi A, Santoro G, Dolara A, Maron BJ. Hypertrophic cardiomyopathy in Tuscany: clinical course and outcome in an unselected regional population. J Am Coll Cardiol 1995;26:1529-36.
-
(1995)
J Am Coll Cardiol
, vol.26
, pp. 1529-1536
-
-
Cecchi, F.1
Olivotto, I.2
Montereggi, A.3
Santoro, G.4
Dolara, A.5
Maron, B.J.6
-
37
-
-
0033577053
-
Clinical course of hypertrophic cardiomyopathy in a regional United States cohort
-
Maron BJ, Casey SA, Poliac LC, Gohman TE, Almquist AK, Aeppli DM. Clinical course of hypertrophic cardiomyopathy in a regional United States cohort. JAMA 1999;281:650-5.
-
(1999)
JAMA
, vol.281
, pp. 650-655
-
-
Maron, B.J.1
Casey, S.A.2
Poliac, L.C.3
Gohman, T.E.4
Almquist, A.K.5
Aeppli, D.M.6
-
38
-
-
0346315804
-
Genomic organisation, alternative splicing and polymorphisms of the human cardiac troponin gene
-
Farza H, Townsend PJ, Carrier L, Barton PJ, Mesnard L, Bährend E, et al. Genomic organisation, alternative splicing and polymorphisms of the human cardiac troponin gene. J Mol Cell Cardiol 1998;30:1247-53.
-
(1998)
J Mol Cell Cardiol
, vol.30
, pp. 1247-1253
-
-
Farza, H.1
Townsend, P.J.2
Carrier, L.3
Barton, P.J.4
Mesnard, L.5
Bährend, E.6
-
39
-
-
0035651366
-
Myosin light chain mutations in familial hypertrophic cardiomyopathy: Phenotypic presentation and frequency in Danish and South African populations
-
Andersen PS, Havndrup O, Bungaard H, Moolmand-Smook JC, Larsen LA, Mogensen J, et al. Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations. J Med Genet 2001;38:E43.
-
(2001)
J Med Genet
, vol.38
-
-
Andersen, P.S.1
Havndrup, O.2
Bungaard, H.3
Moolmand-Smook, J.C.4
Larsen, L.A.5
Mogensen, J.6
|