-
1
-
-
0001943066
-
Cardiovascular diseases due to genetic abnormalities
-
8th R.C. Schlant, Alexander R.W. New York: McGraw-Hill Inc
-
Towbin J., Roberts R. Cardiovascular diseases due to genetic abnormalities. 8th Schlant R.C., Alexander R.W. Hurst's the heart: arteries and veins. 1994;1725-1759 McGraw-Hill Inc, New York.
-
(1994)
Hurst's the heart: Arteries and veins
, pp. 1725-1759
-
-
Towbin, J.1
Roberts, R.2
-
2
-
-
0029083650
-
Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary artery risk development in (young) adults [see comments]
-
Maron B.J., Gardin J.M., Flack J.M., Gidding S.S., Kurosaki T.T., Bild D.E. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary artery risk development in (young) adults [see comments]. Circulation. 92:(4):1995;785-789.
-
(1995)
Circulation
, vol.92
, Issue.4
, pp. 785-789
-
-
Maron, B.J.1
Gardin, J.M.2
Flack, J.M.3
Gidding, S.S.4
Kurosaki, T.T.5
Bild, D.E.6
-
3
-
-
0037603009
-
Hypertrophic cardiomyopathy
-
M.H. Crawford, DiMarco J.P. London: Mosby International limit
-
Elliott P.M., McKenna W.J. Hypertrophic cardiomyopathy. Crawford M.H., DiMarco J.P. Cardiology. 2001;12.1-12.12 Mosby International limit, London.
-
(2001)
Cardiology
, pp. 121-1212
-
-
Elliott, P.M.1
McKenna, W.J.2
-
4
-
-
0016174977
-
The natural (and unnatural) history of hypertrophic obstructive cardiomyopathy
-
Shah P.M., Adelman A.G., Wigle E.D., Gobel F.L., Burchell H.B., Hardarson T., et al. The natural (and unnatural) history of hypertrophic obstructive cardiomyopathy. Circ Res. 35(2):(Suppl II):1974;179-195.
-
(1974)
Circ Res
, vol.35
, Issue.2 SUPPL. II
, pp. 179-195
-
-
Shah, P.M.1
Adelman, A.G.2
Wigle, E.D.3
Gobel, F.L.4
Burchell, H.B.5
Hardarson, T.6
-
5
-
-
0015939328
-
Prognosis and mortality of hypertrophic obstructive cardiomyopathy
-
Hardarson T., De la Calzada C.S., Curiel R., Goodwin J.F. Prognosis and mortality of hypertrophic obstructive cardiomyopathy. Lancet. 2:(7844):1973;1462-1467.
-
(1973)
Lancet
, vol.2
, Issue.7844
, pp. 1462-1467
-
-
Hardarson, T.1
De La Calzada, C.S.2
Curiel, R.3
Goodwin, J.F.4
-
6
-
-
0023821479
-
The natural history of hypertrophic cardiomyopathy
-
McKenna W.J. The natural history of hypertrophic cardiomyopathy. Cardiovasc Clin. 19:(1):1988;135-148.
-
(1988)
Cardiovasc Clin
, vol.19
, Issue.1
, pp. 135-148
-
-
McKenna, W.J.1
-
7
-
-
0028824221
-
Natural history of hypertrophic cardiomyopathy. A population-based study, 1976 through 1990
-
Cannan C.R., Reeder G.S., Bailey K.R., Melton L.J. III, Gersh B.J. Natural history of hypertrophic cardiomyopathy. A population-based study, 1976 through 1990. Circulation. 92:(9):1995;2488-2495.
-
(1995)
Circulation
, vol.92
, Issue.9
, pp. 2488-2495
-
-
Cannan, C.R.1
Reeder, G.S.2
Bailey, K.R.3
Melton L.J. III4
Gersh, B.J.5
-
8
-
-
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 B.J. Hypertrophic cardiomyopathy in Tuscany: clinical course and outcome in an unselected regional population. J Am Coll Cardiol. 26:(6):1995;1529-1536.
-
(1995)
J Am Coll Cardiol
, vol.26
, Issue.6
, pp. 1529-1536
-
-
Cecchi, F.1
Olivotto, I.2
Montereggi, A.3
Santoro, G.4
Dolara, A.5
Maron, B.J.6
-
9
-
-
0021346026
-
Patterns of inheritance in hypertrophic cardiomyopathy: Assessment by M- mode and two-dimensional echocardiography
-
Maron B.J., Nichols P.F.D., Pickle L.W., Wesley Y.E., Mulvihill J.J. Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M- mode and two-dimensional echocardiography. Am J Cardiol. 53:(8):1984;1087-1094.
-
(1984)
Am J Cardiol
, vol.53
, Issue.8
, pp. 1087-1094
-
-
Maron, B.J.1
Nichols, P.F.D.2
Pickle, L.W.3
Wesley, Y.E.4
Mulvihill, J.J.5
-
10
-
-
0025040392
-
A molecular basis for familial hypertrophic cardiomyopathy: A beta 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 beta cardiac myosin heavy chain gene missense mutation. Cell. 62:(5):1990;999-1006.
-
(1990)
Cell
, vol.62
, Issue.5
, 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
-
11
-
-
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:(4):1995;434-437.
-
(1995)
Nat Genet
, vol.11
, Issue.4
, pp. 434-437
-
-
Watkins, H.1
Conner, D.2
Thierfelder, L.3
Jarcho, J.A.4
MacRae, C.5
McKenna, W.J.6
-
12
-
-
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:(4):1995;438-440.
-
(1995)
Nat Genet
, vol.11
, Issue.4
, pp. 438-440
-
-
Bonne, G.1
Carrier, L.2
Bercovici, J.3
Cruaud, C.4
Richard, P.5
Hainque, B.6
-
13
-
-
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 [see comments]
-
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 [see comments]. Circ Res. 80:(3):1997;427-434.
-
(1997)
Circ Res
, vol.80
, Issue.3
, pp. 427-434
-
-
Carrier, L.1
Bonne, G.2
Bahrend, E.3
Yu, B.4
Richard, P.5
Niel, F.6
-
14
-
-
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 H.P., et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 77:(5):1994;701-712.
-
(1994)
Cell
, vol.77
, Issue.5
, pp. 701-712
-
-
Thierfelder, L.1
Watkins, H.2
MacRae, C.3
Lamas, R.4
McKenna, W.5
Vosberg, H.P.6
-
15
-
-
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:(1):1996;63-69.
-
(1996)
Nat Genet
, vol.13
, Issue.1
, pp. 63-69
-
-
Poetter, K.1
Jiang, H.2
Hassanzadeh, S.3
Master, S.R.4
Chang, A.5
Dalakas, M.C.6
-
16
-
-
18744433901
-
Alpha-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. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 103:(10):1999;R39-R43.
-
(1999)
J Clin Invest
, vol.103
, Issue.10
-
-
Mogensen, J.1
Klausen, I.C.2
Pedersen, A.K.3
Egeblad, H.4
Bross, P.5
Kruse, T.A.6
-
17
-
-
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:(4):1997;379-382.
-
(1997)
Nat Genet
, vol.16
, Issue.4
, pp. 379-382
-
-
Kimura, A.1
Harada, H.2
Park, J.E.3
Nishi, H.4
Satoh, M.5
Takahashi, M.6
-
18
-
-
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:(6):2001;524.
-
(2001)
Hum Mutat
, vol.17
, Issue.6
, pp. 524
-
-
Hoffmann, B.1
Schmidt-Traub, H.2
Perrot, A.3
Osterziel, K.J.4
Gessner, R.5
-
19
-
-
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:(2):1999;411-417.
-
(1999)
Biochem Biophys Res Commun
, vol.262
, Issue.2
, pp. 411-417
-
-
Satoh, M.1
Takahashi, M.2
Sakamoto, T.3
Hiroe, M.4
Marumo, F.5
Kimura, A.6
-
20
-
-
0035859215
-
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome
-
Gollob M.H., Green M.S., Tang A.S., Gollob T., Karibe A., Ali Hassan A.S., et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J M. 344:(24):2001;1823-1831.
-
(2001)
N Engl J M
, vol.344
, Issue.24
, pp. 1823-1831
-
-
Gollob, M.H.1
Green, M.S.2
Tang, A.S.3
Gollob, T.4
Karibe, A.5
Ali Hassan, A.S.6
-
21
-
-
0035872209
-
Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: Evidence for the central role of energy compromise in disease pathogenesis
-
Blair E., Redwood C., Ashrafian H., Oliveira M., Broxholme J., Kerr B., et al. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet. 10:(11):2001;1215-1220.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.11
, pp. 1215-1220
-
-
Blair, E.1
Redwood, C.2
Ashrafian, H.3
Oliveira, M.4
Broxholme, J.5
Kerr, B.6
-
22
-
-
0036167225
-
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
-
Arad M., Benson D.W., 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:(3):2002;357-362.
-
(2002)
J Clin Invest
, vol.109
, Issue.3
, pp. 357-362
-
-
Arad, M.1
Benson, D.W.2
Perez-Atayde, A.R.3
McKenna, W.J.4
Sparks, E.A.5
Kanter, R.J.6
-
23
-
-
0034976642
-
The molecular genetic basis for hypertrophic cardiomyopathy
-
Marian A.J., Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol. 33:(4):2001;655-670.
-
(2001)
J Mol Cell Cardiol
, vol.33
, Issue.4
, pp. 655-670
-
-
Marian, A.J.1
Roberts, R.2
-
24
-
-
0036019515
-
Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland
-
Jaaskelainen P., Kuusisto J., Miettinen R., Karkkainen P., Karkkainen 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 M. 80:(7):2002;412-422.
-
(2002)
J Mol M
, vol.80
, Issue.7
, pp. 412-422
-
-
Jaaskelainen, P.1
Kuusisto, J.2
Miettinen, R.3
Karkkainen, P.4
Karkkainen, S.5
Heikkinen, S.6
-
25
-
-
0029864693
-
Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task force on the definition and classification of cardiomyopathies
-
Richardson P., McKenna W., Bristow M., Maisch B., Mautner B., O'Connell J., et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task force on the definition and classification of cardiomyopathies. Circulation. 93:(5):1996;841-842.
-
(1996)
Circulation
, vol.93
, Issue.5
, pp. 841-842
-
-
Richardson, P.1
McKenna, W.2
Bristow, M.3
Maisch, B.4
Mautner, B.5
O'Connell, J.6
-
26
-
-
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:(2):1997;130-132.
-
(1997)
Heart
, vol.77
, Issue.2
, pp. 130-132
-
-
McKenna, W.J.1
Spirito, P.2
Desnos, M.3
Dubourg, O.4
Komajda, M.5
-
27
-
-
0018231715
-
Recommendations regarding quantitation in M-mode echocardiography: Results of a survey of echocardiographic measurements
-
Sahn D.J., DeMaria A., Kisslo J., Weyman A. Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements. Circulation. 58:(6):1978;1072-1083.
-
(1978)
Circulation
, vol.58
, Issue.6
, pp. 1072-1083
-
-
Sahn, D.J.1
DeMaria, A.2
Kisslo, J.3
Weyman, A.4
-
28
-
-
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:(6):1998;580-593.
-
(1998)
Circ Res
, vol.83
, Issue.6
, pp. 580-593
-
-
Bonne, G.1
Carrier, L.2
Richard, P.3
Hainque, B.4
Schwartz, K.5
-
29
-
-
0033847945
-
Deletion in the cardiac troponin I gene in a family from northern Sweden with hypertrophic cardiomyopathy
-
Morner S., Richard P., Kazzam E., Hainque B., Schwartz K., Waldenstrom A. Deletion in the cardiac troponin I gene in a family from northern Sweden with hypertrophic cardiomyopathy. J Mol Cell Cardiol. 32:(3):2000;521-525.
-
(2000)
J Mol Cell Cardiol
, vol.32
, Issue.3
, pp. 521-525
-
-
Morner, S.1
Richard, P.2
Kazzam, E.3
Hainque, B.4
Schwartz, K.5
Waldenstrom, A.6
-
30
-
-
0034999807
-
Denaturing high-performance liquid chromatography: A review
-
Xiao W., Oefner P.J. Denaturing high-performance liquid chromatography: a review. Hum Mutat. 17:(6):2001;439-474.
-
(2001)
Hum Mutat
, vol.17
, Issue.6
, pp. 439-474
-
-
Xiao, W.1
Oefner, P.J.2
-
31
-
-
0031080069
-
The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation
-
Tesson F., Dufour C., Moolman J.C., Carrier L., al-Mahdawi S., Chojnowska L., et al. The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. J Mol Cell Cardiol. 29:(2):1997;831-838.
-
(1997)
J Mol Cell Cardiol
, vol.29
, Issue.2
, pp. 831-838
-
-
Tesson, F.1
Dufour, C.2
Moolman, J.C.3
Carrier, L.4
Al-Mahdawi, S.5
Chojnowska, L.6
-
32
-
-
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:(4):2002;446-451.
-
(2002)
Circulation
, vol.105
, Issue.4
, 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
-
33
-
-
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., 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:(5):1999;1308-1320.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.5
, 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
-
34
-
-
0026485701
-
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations
-
Watkins H., Thierfelder L., Hwang D.S., McKenna W., Seidman J.G., Seidman C.E. Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. J Clin Invest. 90:(5):1992;1666-1671.
-
(1992)
J Clin Invest
, vol.90
, Issue.5
, pp. 1666-1671
-
-
Watkins, H.1
Thierfelder, L.2
Hwang, D.S.3
McKenna, W.4
Seidman, J.G.5
Seidman, C.E.6
-
35
-
-
15644366960
-
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy
-
Flavigny J., Richard P., Isnard R., Carrier L., Charron P., Bonne G., et al. Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. J Mol M. 76:(3-4):1998;208-214.
-
(1998)
J Mol M
, vol.76
, Issue.3-4
, pp. 208-214
-
-
Flavigny, J.1
Richard, P.2
Isnard, R.3
Carrier, L.4
Charron, P.5
Bonne, G.6
-
36
-
-
0033005768
-
Double heterozygosity for mutations in the beta-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 beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. J Med Genet. 36:(7):1999;542-545.
-
(1999)
J Med Genet
, vol.36
, Issue.7
, pp. 542-545
-
-
Richard, P.1
Isnard, R.2
Carrier, L.3
Dubourg, O.4
Donatien, Y.5
Mathieu, B.6
|