-
1
-
-
0023130164
-
Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy (first of two parts)
-
Maron B.J., Bonow R.O., Cannon R.O., Leon M.B., Epstein S.E. Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy (first of two parts). N Engl J M. 316:1987;780-789.
-
(1987)
N Engl J M
, vol.316
, pp. 780-789
-
-
Maron, B.J.1
Bonow, R.O.2
Cannon, R.O.3
Leon, M.B.4
Epstein, S.E.5
-
2
-
-
0029089583
-
Familial hypertrophic cardiomyopathy: A genetic model of cardiac hypertrophy
-
Watkins H., Seidman J.G., Seidman C.E. Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy. Hum Mol Genet. 4:1995;1721-1727.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1721-1727
-
-
Watkins, H.1
Seidman, J.G.2
Seidman, C.E.3
-
3
-
-
0037559975
-
Cardiomyopathies
-
D.L. Rimoin, J.M. Connor, R.E. Pyeritz, & B.R. Korf. London: Churchill Livingstone
-
Vosberg H.P., McKenna W.J. Cardiomyopathies. Rimoin D.L., Connor J.M., Pyeritz R.E., Korf B.R. Emery and Rimoin's Principles and Practice of Medical Genetics. 4th:2002;1342-1346 Churchill Livingstone, London.
-
(2002)
Emery and Rimoin's Principles and Practice of Medical Genetics 4th
, pp. 1342-1346
-
-
Vosberg, H.P.1
McKenna, W.J.2
-
4
-
-
0025040392
-
A molecular basis for familial hypertrophic cardiomyopathy: A β-cardiac myosin heavy chain gene missense mutation
-
Geisterfer-Lowrance A.A., Kass S., Tanigawa G., Vosberg H.P., McKenna W., Seidman C.E., et al. A molecular basis for familial hypertrophic cardiomyopathy: a β-cardiac myosin heavy chain gene missense mutation. Cell. 62:1990;999-1006.
-
(1990)
Cell
, vol.62
, pp. 999-1006
-
-
Geisterfer-Lowrance, A.A.1
Kass, S.2
Tanigawa, G.3
Vosberg, H.P.4
McKenna, W.5
Seidman, C.E.6
-
5
-
-
0028844204
-
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
-
Watkins H., Conner D., Thierfelder L., Jarcho J.A., Macrae C., McKenna W.J., et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 11:1995;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
-
6
-
-
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. 11:1995;438-440.
-
(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
-
7
-
-
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., et al. α-Tropomyosin and cardiac Troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 77:1994;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
-
8
-
-
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., et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 16:1997;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
-
9
-
-
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 S.R., Chang A., Dalakas M.C., et al. 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. 13:1996;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
-
10
-
-
18744433901
-
α-Cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
-
Mogensen J., Klausen I.C., Pedersen A.K., Egeblad H., Bross P., Kruse T.A., et al. α-Cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 103:1999;39-43.
-
(1999)
J Clin Invest
, vol.103
, pp. 39-43
-
-
Mogensen, J.1
Klausen, I.C.2
Pedersen, A.K.3
Egeblad, H.4
Bross, P.5
Kruse, T.A.6
-
11
-
-
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. 262:1999;411-417.
-
(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
-
12
-
-
0035378612
-
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
-
Hoffmann B., Schmidt-Traub H., Perrot A., Osterziel K.J., Gessner R. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum Mutat. 17:2001;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
-
13
-
-
0037192339
-
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly
-
Niimura H., Patton K.K., McKenna W.J., Soults J., Maron B.J., Seidman J.G., et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 105:2002;446-451.
-
(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
-
14
-
-
0035872209
-
2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: Evidence for the central role of energy compromise in disease pathogenesis
-
2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Gen. 10:2001;1215-1220.
-
(2001)
Hum Mol Gen
, vol.10
, pp. 1215-1220
-
-
Blair, E.1
Redwood, C.2
Ashrafian, H.3
Oliveira, M.4
Broxholme, J.5
Kerr, B.6
-
15
-
-
0036167225
-
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
-
Arad A., Benson W.D., Perez-Atayde A.R., McKenna W.J., Sparks E.A., Kanter R.J., et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest. 109:2002;357-362.
-
(2002)
J Clin Invest
, vol.109
, pp. 357-362
-
-
Arad, A.1
Benson, W.D.2
Perez-Atayde, A.R.3
McKenna, W.J.4
Sparks, E.A.5
Kanter, R.J.6
-
16
-
-
0032555955
-
Familial hypertrophic cardiomyopathy. From mutations to functional defects
-
Bonne G., Carrier L., Richard P., Hainque B., Schwartz K. Familial hypertrophic cardiomyopathy. From mutations to functional defects. Circ Res. 83:1998;580-593.
-
(1998)
Circ Res
, vol.83
, pp. 580-593
-
-
Bonne, G.1
Carrier, L.2
Richard, P.3
Hainque, B.4
Schwartz, K.5
-
17
-
-
0026573969
-
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
-
Watkins H., Rosenzweig A., Hwang D.S., Levi T., McKenna W.J., Seidman C.E., et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J M. 326:1992;1108-1114.
-
(1992)
N Engl J M
, vol.326
, pp. 1108-1114
-
-
Watkins, H.1
Rosenzweig, A.2
Hwang, D.S.3
Levi, T.4
McKenna, W.J.5
Seidman, C.E.6
-
18
-
-
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 W.J., Solomon S., et al. Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest. 93:1994;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
-
19
-
-
0028902929
-
Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy
-
Watkins H., McKenna W.J., Thierfelder L., Suk H.J., Anan R., O'Donoghue A., et al. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J M. 332:1995;1058-1064.
-
(1995)
N Engl J M
, 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
-
20
-
-
0034724252
-
A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance
-
Moolman J.A., Reith S., Uhl K., Bailey S., Gautel M., Jeschke B., et al. A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. Circulation. 101:2000;1396-1402.
-
(2000)
Circulation
, vol.101
, pp. 1396-1402
-
-
Moolman, J.A.1
Reith, S.2
Uhl, K.3
Bailey, S.4
Gautel, M.5
Jeschke, B.6
-
21
-
-
0034145538
-
Arg-Leu) in the cardiac β-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family
-
Arg-Leu) in the cardiac β-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family. Hum Mutat. 15:2000;298-299.
-
(2000)
Hum Mutat
, vol.15
, pp. 298-299
-
-
Sakthivel, S.1
Joseph, P.K.2
Rajamanickam, C.3
Vosberg, H.P.4
-
22
-
-
0036178004
-
Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: A study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene
-
Ortlepp J.R., Vosberg H.P., Reith S., Ohme F., Mahon N.G., Schröder D., et al. Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene. Heart. 87:2002;270-275.
-
(2002)
Heart
, vol.87
, pp. 270-275
-
-
Ortlepp, J.R.1
Vosberg, H.P.2
Reith, S.3
Ohme, F.4
Mahon, N.G.5
Schröder, D.6
-
23
-
-
0017331788
-
Echocardiographic determination of left ventricular mass in man
-
Devereux R.B., Reichek N. Echocardiographic determination of left ventricular mass in man. Circulation. 55:1977;613-618.
-
(1977)
Circulation
, vol.55
, pp. 613-618
-
-
Devereux, R.B.1
Reichek, N.2
-
24
-
-
0025007358
-
The complete sequence of the human β-myosin heavy chain gene and a comparative analysis of its product
-
Jaenicke T., Diederich K.W., Haas W., Schleich J., Lichter P., Pfordt M., et al. The complete sequence of the human β-myosin heavy chain gene and a comparative analysis of its product. Genomics. 8:1990;194-206.
-
(1990)
Genomics
, vol.8
, pp. 194-206
-
-
Jaenicke, T.1
Diederich, K.W.2
Haas, W.3
Schleich, J.4
Lichter, P.5
Pfordt, M.6
-
25
-
-
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., Yu B., Richard P., Niel F., 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. 80:1997;427-434.
-
(1997)
Circ Res
, vol.80
, pp. 427-434
-
-
Carrier, L.1
Bonne, G.2
Bahrend, E.3
Yu, B.4
Richard, P.5
Niel, F.6
-
26
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M., Iwahana H., Kanazawa H., Hayashi K., Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA. 86:1989;2766-2770.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
27
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
(Supplementary Table 1, p. A77)
-
Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 380:1996;152-154. (Supplementary Table 1, p. A77).
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
-
28
-
-
0028348715
-
Efficient detection of point mutations on color-coded strands of target DNA
-
Verpy E., Biasotto M., Meo T., Tosi M. Efficient detection of point mutations on color-coded strands of target DNA. Proc Natl Acad Sci USA. 91:1994;1873-1877.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 1873-1877
-
-
Verpy, E.1
Biasotto, M.2
Meo, T.3
Tosi, M.4
-
29
-
-
0032540905
-
A sequencing method based on real-time pyrophosphate
-
Ronaghi M., Uhlen M., Nyren P. A sequencing method based on real-time pyrophosphate. Science. 281:1998;363-365.
-
(1998)
Science
, vol.281
, pp. 363-365
-
-
Ronaghi, M.1
Uhlen, M.2
Nyren, P.3
-
30
-
-
0022407973
-
Characterization of potentially reversible increase in β-adrenargic receptors in isolated, neonatal rat cardiac myocytes with impaired energy metabolism
-
Buja L.M., Muntz K.H., Rosenbaum T., Haghani Z., Buja D.K., Sen A., et al. Characterization of potentially reversible increase in β-adrenargic receptors in isolated, neonatal rat cardiac myocytes with impaired energy metabolism. Circ Res. 57:1985;640-645.
-
(1985)
Circ Res
, vol.57
, pp. 640-645
-
-
Buja, L.M.1
Muntz, K.H.2
Rosenbaum, T.3
Haghani, Z.4
Buja, D.K.5
Sen, A.6
-
31
-
-
0344878860
-
The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population
-
Jaaskelainen P., Soranta M., Miettinen R., Saarinen L., Pihlajamaki 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 Card. 32:1998;1709-1716.
-
(1998)
J Am Coll Card
, vol.32
, pp. 1709-1716
-
-
Jaaskelainen, P.1
Soranta, M.2
Miettinen, R.3
Saarinen, L.4
Pihlajamaki, J.5
Silvennoinen, K.6
-
32
-
-
0033361790
-
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: A unique profile of both independent and founder events
-
Moolman-Smook J.C., De Lange W.J., Bruwer E.C.D., Brink P.A., Corfield V.A. 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. 65:1999;1308-1320.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1308-1320
-
-
Moolman-Smook, J.C.1
De Lange, W.J.2
Bruwer, E.C.D.3
Brink, P.A.4
Corfield, V.A.5
-
33
-
-
0019975166
-
Periodic charge distributions in the myosin rod amino acid sequence match cross-bridge spacings in muscle
-
McLachlan A.D., Karn J. Periodic charge distributions in the myosin rod amino acid sequence match cross-bridge spacings in muscle. Nature. 299:1982;226-231.
-
(1982)
Nature
, vol.299
, pp. 226-231
-
-
McLachlan, A.D.1
Karn, J.2
-
34
-
-
0029870409
-
The structure of the head-tail junction of the myosin molecular
-
Offer G., Knight P.J. The structure of the head-tail junction of the myosin molecular. J Mol Biol. 256:1996;407-416.
-
(1996)
J Mol Biol
, vol.256
, pp. 407-416
-
-
Offer, G.1
Knight, P.J.2
-
35
-
-
0030852878
-
Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization of cardiac transcript and protein
-
Rottbauer W., Gautel M., Zehelein J., Labeit S., Franz W.M., Fischer C., et al. Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization of cardiac transcript and protein. J Clin Invest. 100:1997;475-482.
-
(1997)
J Clin Invest
, vol.100
, pp. 475-482
-
-
Rottbauer, W.1
Gautel, M.2
Zehelein, J.3
Labeit, S.4
Franz, W.M.5
Fischer, C.6
-
36
-
-
0035951432
-
Quality control of mRNA function
-
Maquat L.E., carmichael G.G. Quality control of mRNA function. Cell. 104:2001;173-176.
-
(2001)
Cell
, vol.104
, pp. 173-176
-
-
Maquat, L.E.1
Carmichael, G.G.2
-
37
-
-
0034280526
-
The ubiquitin system and the N-end rule pathway
-
Varshavsky A., Turner G., Du F., Xie Y. The ubiquitin system and the N-end rule pathway. Biol Chem. 381:2000;779-789.
-
(2000)
Biol Chem
, vol.381
, pp. 779-789
-
-
Varshavsky, A.1
Turner, G.2
Du, F.3
Xie, Y.4
-
38
-
-
0035936792
-
The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
-
Seidman J.G., Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 104:2001;557-567.
-
(2001)
Cell
, vol.104
, pp. 557-567
-
-
Seidman, J.G.1
Seidman, C.2
-
39
-
-
0033607481
-
COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes
-
Flavigny J., Souchet M., Sebillon P., Berrebi-Bertrand I., Hainque B., Mallet A., et al. COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes. J Mol Biol. 294:1999;443-456.
-
(1999)
J Mol Biol
, vol.294
, pp. 443-456
-
-
Flavigny, J.1
Souchet, M.2
Sebillon, P.3
Berrebi-Bertrand, I.4
Hainque, B.5
Mallet, A.6
-
40
-
-
0034843964
-
Phenotypic deficits in mice expressing a MyBP-C lacking the titin and myosin binding domains
-
Yang Q., Osinska H., Klevitsky R., Robbins J. Phenotypic deficits in mice expressing a MyBP-C lacking the titin and myosin binding domains. J Mol Cell Cardiol. 33:2001;1649-1658.
-
(2001)
J Mol Cell Cardiol
, vol.33
, pp. 1649-1658
-
-
Yang, Q.1
Osinska, H.2
Klevitsky, R.3
Robbins, J.4
-
41
-
-
0031049263
-
Experience from clinical genetics in hypertrophic cardiomyopathy: Proposal for new diagnostic criteria in adult members of affected families
-
McKenna W.J., 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. 77:1997;130-132.
-
(1997)
Heart
, vol.77
, pp. 130-132
-
-
McKenna, W.J.1
Spirito, P.2
Desnos, M.3
Dubourg, O.4
Komajda, M.5
-
42
-
-
0033005768
-
Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein-C genes in a family with hypertrophic cardiomyopathy
-
Richard P., Isnard R., Carrier L., Dubourg O., Donatien Y., Mathieu B., et al. Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein-C genes in a family with hypertrophic cardiomyopathy. J Med Genet. 36:1999;542-545.
-
(1999)
J Med Genet
, vol.36
, pp. 542-545
-
-
Richard, P.1
Isnard, R.2
Carrier, L.3
Dubourg, O.4
Donatien, Y.5
Mathieu, B.6
|