-
1
-
-
0025040392
-
A molecular basis for familial hypertrophic cardiomyopathy: A beta-cardiac myosin heavy chain gene missense mutation
-
Geisterfer-Lowrance AA, Kass S, Tanigawa G et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta-cardiac myosin heavy chain gene missense mutation. Cell 1990; 62: 999-1006.
-
(1990)
Cell
, vol.62
, pp. 999-1006
-
-
Geisterfer-Lowrance, A.A.1
Kass, S.2
Tanigawa, G.3
-
2
-
-
0023128040
-
Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology and therapy
-
Maron BJ, Bonow RO, Cannon RO, III, Leon MB, Epstein SE. Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology and therapy. N Engl J Med 1987; 316: 844-52.
-
(1987)
N Engl J Med
, vol.316
, pp. 844-852
-
-
Maron, B.J.1
Bonow, R.O.2
Cannon III, R.O.3
Leon, M.B.4
Epstein, S.E.5
-
3
-
-
0030842476
-
Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population
-
Charron P, Dubourg O, Desnos M et al. Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population. Circulation 1997; 96: 214-9.
-
(1997)
Circulation
, vol.96
, pp. 214-219
-
-
Charron, P.1
Dubourg, O.2
Desnos, M.3
-
4
-
-
0025279744
-
Hypertrophic cardiomyopathy without hypertrophy: Two families with myocardial disarray in the absence of increased myocardial mass
-
McKenna WJ, Stewart JT, Nihoyannopoulos P, McGinty F, Davies MJ. Hypertrophic cardiomyopathy without hypertrophy: two families with myocardial disarray in the absence of increased myocardial mass. Br Heart J 1990; 63: 287-90.
-
(1990)
Br Heart J
, vol.63
, pp. 287-290
-
-
McKenna, W.J.1
Stewart, J.T.2
Nihoyannopoulos, P.3
McGinty, F.4
Davies, M.J.5
-
5
-
-
0025345602
-
Sudden death in hypertrophic cardiomyopathy with normal left ventricular mass
-
Maron BJ, Kragel AH, Roberts WC. Sudden death in hypertrophic cardiomyopathy with normal left ventricular mass. Br Heart J 1990; 63: 308-10.
-
(1990)
Br Heart J
, vol.63
, pp. 308-310
-
-
Maron, B.J.1
Kragel, A.H.2
Roberts, W.C.3
-
6
-
-
0036484798
-
Chronologic electrocardiographic changes in patients with hypertrophic cardiomyopathy associated with cardiac troponin I mutation
-
Shimizu M, Ino H, Yamaguchi M et al. Chronologic electrocardiographic changes in patients with hypertrophic cardiomyopathy associated with cardiac troponin I mutation. Am Heart J 2002; 143: 289-93.
-
(2002)
Am Heart J
, vol.143
, pp. 289-293
-
-
Shimizu, M.1
Ino, H.2
Yamaguchi, M.3
-
7
-
-
10744221470
-
Diagnostic value of abnormal Q waves for identification of preclinical carriers of hypertrophic cardiomyopathy based on a molecular genetic diagnosis
-
Konno T, Shimizu M, Ino H et al. Diagnostic value of abnormal Q waves for identification of preclinical carriers of hypertrophic cardiomyopathy based on a molecular genetic diagnosis. Eur Heart J 2004; 25: 246-51.
-
(2004)
Eur Heart J
, vol.25
, pp. 246-251
-
-
Konno, T.1
Shimizu, M.2
Ino, H.3
-
8
-
-
0034900986
-
Development of left ventricular hypertrophy in adults with hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations
-
Maron BJ, Niimura H, Casey SA et al. Development of left ventricular hypertrophy in adults with hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. J Am Coll Cardiol 2001; 38: 315-21.
-
(2001)
J Am Coll Cardiol
, vol.38
, pp. 315-321
-
-
Maron, B.J.1
Niimura, H.2
Casey, S.A.3
-
9
-
-
0037420123
-
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients
-
Konno T, Shimizu M, Ino H et al. A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. J Am Coll Cardiol 2003; 41: 781-6.
-
(2003)
J Am Coll Cardiol
, vol.41
, pp. 781-786
-
-
Konno, T.1
Shimizu, M.2
Ino, H.3
-
10
-
-
0036145490
-
A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy
-
Fujino N, Shimizu M, Ino H et al. A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy. Am J Cardiol 2002; 89: 29-33.
-
(2002)
Am J Cardiol
, vol.89
, pp. 29-33
-
-
Fujino, N.1
Shimizu, M.2
Ino, H.3
-
11
-
-
0034622609
-
Clinical features of hypertrophic cardiomyopathy caused by Lys183 deletion mutation in the cardiac troponin I gene
-
Kokado H, Shimizu M, Yoshio H et al. Clinical features of hypertrophic cardiomyopathy caused by Lys183 deletion mutation in the cardiac troponin I gene. Circulation 2000; 102: 663-9.
-
(2000)
Circulation
, vol.102
, pp. 663-669
-
-
Kokado, H.1
Shimizu, M.2
Yoshio, H.3
-
12
-
-
0031055854
-
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy
-
Carrier L, Bonne G, Bahrend E et al. Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Circ Res 1997; 80: 427-34.
-
(1997)
Circ Res
, vol.80
, pp. 427-434
-
-
Carrier, L.1
Bonne, G.2
Bahrend, E.3
-
13
-
-
0025007358
-
The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product
-
Jaenicke T, Diederich KW, Haas W et al. The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics 1990; 8: 194-206.
-
(1990)
Genomics
, vol.8
, pp. 194-206
-
-
Jaenicke, T.1
Diederich, K.W.2
Haas, W.3
-
14
-
-
0028178083
-
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
-
Thierfelder L, Watkins H, MacRae C 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
-
15
-
-
0030765610
-
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
-
Kimura A, Harada H, Park JE et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997; 16: 379-82.
-
(1997)
Nat Genet
, vol.16
, pp. 379-382
-
-
Kimura, A.1
Harada, H.2
Park, J.E.3
-
16
-
-
0032420783
-
Characteristics of 9194 patients with left ventricular hypertrophy - The LIFE study
-
Dahlöf B, Devereux RB, Julius S et al. Characteristics of 9194 patients with left ventricular hypertrophy - The LIFE study. Hypertension 1998; 32: 989-97.
-
(1998)
Hypertension
, vol.32
, pp. 989-997
-
-
Dahlöf, B.1
Devereux, R.B.2
Julius, S.3
-
17
-
-
0019165493
-
Echocardiographic measurements in normal subjects from infancy to old age
-
Henry WL, Gardin JM, Ware JH et al. Echocardiographic measurements in normal subjects from infancy to old age. Circulation 1980; 62: 1054-61.
-
(1980)
Circulation
, vol.62
, pp. 1054-1061
-
-
Henry, W.L.1
Gardin, J.M.2
Ware, J.H.3
-
18
-
-
0037045836
-
Uses and abuses of screening tests
-
Grimes DA, Schulz KF. Uses and abuses of screening tests. Lancet 2002; 359: 881-4.
-
(2002)
Lancet
, vol.359
, pp. 881-884
-
-
Grimes, D.A.1
Schulz, K.F.2
-
19
-
-
0028999347
-
A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy
-
Nishi H, Kimura A, Harada H et al. A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. Circulation 1995; 91: 2911-5.
-
(1995)
Circulation
, vol.91
, pp. 2911-2915
-
-
Nishi, H.1
Kimura, A.2
Harada, H.3
-
20
-
-
0028332683
-
Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy
-
Nishi H, Kimura A, Harada H et al. Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun 1994; 200: 549-56.
-
(1994)
Biochem Biophys Res Commun
, vol.200
, pp. 549-556
-
-
Nishi, H.1
Kimura, A.2
Harada, H.3
-
21
-
-
0035033138
-
Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy
-
Fujino N, Shimizu M, Ino H et al. Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy. Clin Cardiol 2001; 24: 397-402.
-
(2001)
Clin Cardiol
, vol.24
, pp. 397-402
-
-
Fujino, N.1
Shimizu, M.2
Ino, H.3
-
22
-
-
27144515198
-
A novel mutation (In t21DSG+1A) in the cardiac myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with severe left ventricular hypertrophy and a high degree of penetrance
-
abstract 2849
-
Konno T, Shimizu M, Ino H et al. A novel mutation (In t21DSG+1A) in the cardiac myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with severe left ventricular hypertrophy and a high degree of penetrance. Circulation 2003; 108: 627 (abstract 2849).
-
(2003)
Circulation
, vol.108
, pp. 627
-
-
Konno, T.1
Shimizu, M.2
Ino, H.3
-
23
-
-
0037173015
-
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy
-
Ho CY, Sweitzer NK, McDonough B et al. Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation 2002; 105: 2992-7.
-
(2002)
Circulation
, vol.105
, pp. 2992-2997
-
-
Ho, C.Y.1
Sweitzer, N.K.2
McDonough, B.3
-
24
-
-
0024588168
-
Relation of electrocardiographic abnormalities to evolving left ventricular hypertrophy in hypertrophic cardiomyopathy during childhood
-
Panza JA, Maron BJ. Relation of electrocardiographic abnormalities to evolving left ventricular hypertrophy in hypertrophic cardiomyopathy during childhood. Am J Cardiol 1989; 63: 1258-65.
-
(1989)
Am J Cardiol
, vol.63
, pp. 1258-1265
-
-
Panza, J.A.1
Maron, B.J.2
-
25
-
-
0038043150
-
Accuracy of European diagnostic criteria for familial hypertrophic cardiomyopathy in a genotyped population
-
Charron P, Forissier JF, Amara ME et al. Accuracy of European diagnostic criteria for familial hypertrophic cardiomyopathy in a genotyped population. Int J Cardiol 2003; 90: 33-8.
-
(2003)
Int J Cardiol
, vol.90
, pp. 33-38
-
-
Charron, P.1
Forissier, J.F.2
Amara, M.E.3
-
26
-
-
0037304494
-
Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac β-myosin gene mutations
-
Havndrup O, Bundgaard H, Andersen PS et al. Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac β-myosin gene mutations. Cardiovasc Res 2003; 57: 347-57.
-
(2003)
Cardiovasc Res
, vol.57
, pp. 347-357
-
-
Havndrup, O.1
Bundgaard, H.2
Andersen, P.S.3
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