-
2
-
-
0025040392
-
A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation
-
Geisterfer-Lowrance AAT, Kass S, Tanigawa G, Vosberg H-P, McKenna W. Seidman CE, Seidman JG. A molecular basis for familial hypertrophic cardiomyopathy: a β cardiac myosin heavy chain gene missense mutation. Cell. 1990;62:999-1006.
-
(1990)
Cell
, vol.62
, pp. 999-1006
-
-
Geisterfer-Lowrance, A.A.T.1
Kass, S.2
Tanigawa, G.3
Vosberg, H.-P.4
McKenna, W.5
Seidman, C.E.6
Seidman, J.G.7
-
3
-
-
0028178083
-
α-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 H-P, Seidman JG, Seidman CE. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994;77:701-712.
-
(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
Seidman, J.G.7
Seidman, C.E.8
-
4
-
-
0028844204
-
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
-
Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995;11:434-437.
-
(1995)
Nat Genet.
, vol.11
, pp. 434-437
-
-
Watkins, H.1
Conner, D.2
Thierfelder, L.3
Jarcho, J.A.4
MacRae, C.5
McKenna, W.J.6
Maron, B.J.7
Seidman, J.G.8
Seidman, C.E.9
-
5
-
-
15844400653
-
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
-
Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet. 1996;13: 63-69.
-
(1996)
Nat Genet.
, vol.13
, pp. 63-69
-
-
Poetter, K.1
Jiang, H.2
Hassanzadeh, S.3
Master, S.R.4
Chang, A.5
Dalakas, M.C.6
Rayment, I.7
Sellers, J.R.8
Fananapazir, L.9
Epstein, N.D.10
-
6
-
-
0030765610
-
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
-
Kimura A, Harada H, Park J-E, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang T-H, Choo J-A, Chung K-S, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997;16:379-382.
-
(1997)
Nat Genet.
, vol.16
, pp. 379-382
-
-
Kimura, A.1
Harada, H.2
Park, J.-E.3
Nishi, H.4
Satoh, M.5
Takahashi, M.6
Hiroi, S.7
Sasaoka, T.8
Ohbuchi, N.9
Nakamura, T.10
Koyanagi, T.11
Hwang, T.-H.12
Choo, J.-A.13
Chung, K.-S.14
Hasegawa, A.15
Nagai, R.16
Okazaki, O.17
Nakamura, H.18
Matsuzaki, M.19
Sakamoto, T.20
Toshima, H.21
Koga, Y.22
Imaizumi, T.23
Sasazuki, T.24
more..
-
7
-
-
0026573969
-
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
-
Watkins H, Rosenzweig A, Hwang D-S, Levi T, McKenna W, Seidman CE, Seidman JG. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992;326:1108-1114.
-
(1992)
N Engl J Med.
, vol.326
, pp. 1108-1114
-
-
Watkins, H.1
Rosenzweig, A.2
Hwang, D.-S.3
Levi, T.4
McKenna, W.5
Seidman, C.E.6
Seidman, J.G.7
-
8
-
-
0027954269
-
Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
-
Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, Vecchio C, Shono H, Nakao S, Tanaka H, Mares A Jr, Towbin JA, Spirito P, Roberts R, Seidman JG, Seidman CE. Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest. 1994;93:280-285.
-
(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
Vecchio, C.7
Shono, H.8
Nakao, S.9
Tanaka, H.10
Mares A., Jr.11
Towbin, J.A.12
Spirito, P.13
Roberts, R.14
Seidman, J.G.15
Seidman, C.E.16
-
9
-
-
0028902929
-
Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy
-
Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, Spirito P, Matsumori A, Moravec CS, Seidman JG, Seidman CE. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med. 1995;332:1058-1064.
-
(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
Spirito, P.7
Matsumori, A.8
Moravec, C.S.9
Seidman, J.G.10
Seidman, C.E.11
-
10
-
-
0031052924
-
Sudden death due to troponin T mutations
-
Moolman JC, Corfield VA, Posen B, Ngumbela K, Seidman C, Brink PA, Watkins H. Sudden death due to troponin T mutations. J Am Coll Cardiol. 1997;29:549-555.
-
(1997)
J Am Coll Cardiol.
, vol.29
, pp. 549-555
-
-
Moolman, J.C.1
Corfield, V.A.2
Posen, B.3
Ngumbela, K.4
Seidman, C.5
Brink, P.A.6
Watkins, H.7
-
11
-
-
0031080070
-
Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy
-
Nakajima-Taniguchi C, Matsui H, Fujio Y, Nagata S, Kishimoto T, Yamauchi-Takihara K. Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. J Mol Cell Cardiol. 1997;29:839-843.
-
(1997)
J Mol Cell Cardiol.
, vol.29
, pp. 839-843
-
-
Nakajima-Taniguchi, C.1
Matsui, H.2
Fujio, Y.3
Nagata, S.4
Kishimoto, T.5
Yamauchi-Takihara, K.6
-
12
-
-
0027236033
-
Molecular cloning and developmental expression of human cardiac troponin T
-
Mesnard L, Samson F, Espinasse I, Durand J, Neveux J-Y, Mercadier J-J. Molecular cloning and developmental expression of human cardiac troponin T. FEBS Lett. 1993;328:139-144.
-
(1993)
FEBS Lett.
, vol.328
, pp. 139-144
-
-
Mesnard, L.1
Samson, F.2
Espinasse, I.3
Durand, J.4
Neveux, J.-Y.5
Mercadier, J.-J.6
-
13
-
-
0031804035
-
GenBank
-
Benson DA, Boguski MS, Lipman DJ, Ostell J, Ouellette BF. GenBank. Nucl Acids Res. 1998;26:1-7.
-
(1998)
Nucl Acids Res.
, vol.26
, pp. 1-7
-
-
Benson, D.A.1
Boguski, M.S.2
Lipman, D.J.3
Ostell, J.4
Ouellette, B.F.5
-
14
-
-
8044244822
-
Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy
-
Forissier J-F, Carrier L, Farza H, Bonne G, Bercovici J, Richard P, Hainque B, Townsend PJ, Yacoub MH, Faure S, Dubourg O, Millaire A, Hagege AA, Desnos M, Komajda M, Schwartz K. Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. Circulation. 1996;94:3069-3073.
-
(1996)
Circulation
, vol.94
, pp. 3069-3073
-
-
Forissier, J.-F.1
Carrier, L.2
Farza, H.3
Bonne, G.4
Bercovici, J.5
Richard, P.6
Hainque, B.7
Townsend, P.J.8
Yacoub, M.H.9
Faure, S.10
Dubourg, O.11
Millaire, A.12
Hagege, A.A.13
Desnos, M.14
Komajda, M.15
Schwartz, K.16
-
15
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996;380:152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
18
-
-
0003135221
-
Echocardiographic measurements and normal values
-
Malvern, Pa: Lea and Febiger
-
Feigenbaum H. Echocardiographic measurements and normal values. In: Echocardiography. 5th ed. Malvern, Pa: Lea and Febiger; 1994:658-683.
-
(1994)
Echocardiography. 5th Ed.
, pp. 658-683
-
-
Feigenbaum, H.1
-
19
-
-
0019442765
-
Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: A wide angle, two dimensional echocardiographic study of 125 patients
-
Maron BJ, Gottdiener JS, Epstein SE. Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: a wide angle, two dimensional echocardiographic study of 125 patients. Am J Cardiol. 1981;48:418-428.
-
(1981)
Am J Cardiol.
, vol.48
, pp. 418-428
-
-
Maron, B.J.1
Gottdiener, J.S.2
Epstein, S.E.3
-
21
-
-
0027504548
-
Independent origin of identical β cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy
-
Watkins H, Thierfelder L, Anan R, Jarcho J, Matsumori A, McKenna W, Seidman JG, Seidman CE. Independent origin of identical β cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. Am J Hum Genet. 1993;53:1180-1185.
-
(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
Seidman, J.G.7
Seidman, C.E.8
-
22
-
-
0031042881
-
Clinical features of hypertrophic cardiorayopathy caused by mutation of a "hot spot" in the alphatropomyosin gene
-
Coviello DA, Maron BJ, Spirito P, Watkins H, Vosberg H-P, Thierfelder L, Schoen FJ, Seidman JG, Seidman CE. Clinical features of hypertrophic cardiorayopathy caused by mutation of a "hot spot" in the alphatropomyosin gene. J Am Coll Cardiol. 1997;29:635-640.
-
(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
Schoen, F.J.7
Seidman, J.G.8
Seidman, C.E.9
-
23
-
-
0028140230
-
Genotype-phenotype correlations in hypertrophic cardiomyopathy: Insights provided by comparisons of kindreds with distinct and identical "-myosin heavy chain gene mutations
-
Fananapazir L, Epstein ND. Genotype-phenotype correlations in hypertrophic cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical "-myosin heavy chain gene mutations. Circulation. 1994;89:22-32.
-
(1994)
Circulation
, vol.89
, pp. 22-32
-
-
Fananapazir, L.1
Epstein, N.D.2
-
24
-
-
0030842476
-
Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population
-
Charron P, Dubourg O, Desnos M, Isnard R, Hagege A, Millaire A, Carrier L, Bonne G, Tesson F, Richard P, Bouhour J-B, Schwatrz K, Komaida M. Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population. Circulation. 1997;96:214-219.
-
(1997)
Circulation
, vol.96
, pp. 214-219
-
-
Charron, P.1
Dubourg, O.2
Desnos, M.3
Isnard, R.4
Hagege, A.5
Millaire, A.6
Carrier, L.7
Bonne, G.8
Tesson, F.9
Richard, P.10
Bouhour, J.-B.11
Schwatrz, K.12
Komaida, M.13
-
25
-
-
0027209383
-
Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene
-
Solomon SD, Wolff S, Watkins H, Ridker PM, Come P, McKenna WJ, Seidman CE Lee RT. Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. J Am Coll Cardiol. 1993;22:498-505.
-
(1993)
J Am Coll Cardiol.
, vol.22
, pp. 498-505
-
-
Solomon, S.D.1
Wolff, S.2
Watkins, H.3
Ridker, P.M.4
Come, P.5
McKenna, W.J.6
Seidman, C.E.7
Lee, R.T.8
-
26
-
-
0028849972
-
Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: Morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients
-
Klues HG, Schiffers A, Maron BJ. Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients. J Am Coll Cardiol. 1995;26: 1699-1708.
-
(1995)
J Am Coll Cardiol.
, vol.26
, pp. 1699-1708
-
-
Klues, H.G.1
Schiffers, A.2
Maron, B.J.3
-
27
-
-
0017041315
-
Giant T wave inversion as a manifestation of asymmetrical apical hypertrophy (AAH) of the left ventricle
-
Sakamoto T, Tei C, Murayama M, Ichiyasu H, Hada Y, Hayashi T, Amano K. Giant T wave inversion as a manifestation of asymmetrical apical hypertrophy (AAH) of the left ventricle. Jpn Heart J. 1976;17: 611-629.
-
(1976)
Jpn Heart J
, vol.17
, pp. 611-629
-
-
Sakamoto, T.1
Tei, C.2
Murayama, M.3
Ichiyasu, H.4
Hada, Y.5
Hayashi, T.6
Amano, K.7
-
28
-
-
0018675177
-
Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): Ventriculographic and echocardiographic features in 30 patients
-
Yamaguchi H, Ishimura T, Nishiyama S, Nagasaki F, Nakanishi S, Takatsu F, Nishijo T, Umeda T, Machii K. Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients. Am J Cardiol. 1979;44:401-412.
-
(1979)
Am J Cardiol.
, vol.44
, pp. 401-412
-
-
Yamaguchi, H.1
Ishimura, T.2
Nishiyama, S.3
Nagasaki, F.4
Nakanishi, S.5
Takatsu, F.6
Nishijo, T.7
Umeda, T.8
Machii, K.9
-
30
-
-
0030611676
-
92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility
-
92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility. Circ Res. 1997; 81:76-85.
-
(1997)
Circ Res.
, vol.81
, pp. 76-85
-
-
Marian, A.J.1
Zhao, G.2
Seta, Y.3
Roberts, R.4
Yu, Q.-T.5
-
31
-
-
0029804760
-
Expression and functional assessment of a truncated troponin T that causes hypertrophic cardiomyopathy: Evidence for a dominant negative action
-
Watkins H, Seidman CE, Seidman JG, Feng HS, Sweeney HL. Expression and functional assessment of a truncated troponin T that causes hypertrophic cardiomyopathy: evidence for a dominant negative action J Clin Invest. 1996;98:2456-2461.
-
(1996)
J Clin Invest.
, vol.98
, pp. 2456-2461
-
-
Watkins, H.1
Seidman, C.E.2
Seidman, J.G.3
Feng, H.S.4
Sweeney, H.L.5
-
32
-
-
0029993918
-
Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy
-
Lin D, Bobkova A, Homsher E, Tobacman LS. Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy. J Clin Invest. 1996;97:2842-2848.
-
(1996)
J Clin Invest.
, vol.97
, pp. 2842-2848
-
-
Lin, D.1
Bobkova, A.2
Homsher, E.3
Tobacman, L.S.4
|