-
1
-
-
0025650906
-
Cardiomyopathies in children: Clinical, epidemiological, and prognostic evaluation
-
Bilgig A, Ozbarlas N, Ozkutlu S, Ozer S, Ozme S. Cardiomyopathies in children: clinical, epidemiological, and prognostic evaluation. Jpn Heart J. 1990;31:789-797.
-
(1990)
Jpn Heart J
, vol.31
, pp. 789-797
-
-
Bilgig, A.1
Ozbarlas, N.2
Ozkutlu, S.3
Ozer, S.4
Ozme, S.5
-
2
-
-
0025916726
-
Outcome of infants and children with dilated cardiomyopathy
-
Lewis A, Chabot M. Outcome of infants and children with dilated cardiomyopathy. Am J Cardiol. 1991;68:365-369.
-
(1991)
Am J Cardiol
, vol.68
, pp. 365-369
-
-
Lewis, A.1
Chabot, M.2
-
3
-
-
0022373585
-
Idiopathic dilated cardiomyopathy in the young: Clinical profile and natural history
-
Taliercio CP, Seward JB, Driscoll DJ, Fisher LD, Gersh BJ, Tajik AJ. Idiopathic dilated cardiomyopathy in the young: clinical profile and natural history. J Am Coll Cardiol. 1985;6:1126-1131.
-
(1985)
J Am Coll Cardiol
, vol.6
, pp. 1126-1131
-
-
Taliercio, C.P.1
Seward, J.B.2
Driscoll, D.J.3
Fisher, L.D.4
Gersh, B.J.5
Tajik, A.J.6
-
4
-
-
0000347059
-
Pediatric dilated cardiomyopathy (DCM): Prognosis in a developing nation is comparable to developed nations
-
Abstract
-
Kumar K, Thatai D, Saxena A, Srinivas V, Juneja R, Kothari SS, Shrivastava S, Lipshultz SE. Pediatric dilated cardiomyopathy (DCM): prognosis in a developing nation is comparable to developed nations. J Am Coll Cardiol. 1996;27:187A. Abstract.
-
(1996)
J Am Coll Cardiol
, vol.27
-
-
Kumar, K.1
Thatai, D.2
Saxena, A.3
Srinivas, V.4
Juneja, R.5
Kothari, S.S.6
Shrivastava, S.7
Lipshultz, S.E.8
-
5
-
-
0027215234
-
Molecular genetic aspects of cardiomyopathy
-
Towbin JA. Molecular genetic aspects of cardiomyopathy. Biochem Med Metab Biol. 1993;49:285-320.
-
(1993)
Biochem Med Metab Biol
, vol.49
, pp. 285-320
-
-
Towbin, J.A.1
-
6
-
-
0028347574
-
Inherited cardiomyopathies
-
Kelly DP, Strauss AW. Inherited cardiomyopathies. N Engl J Med. 1994;330:913-919.
-
(1994)
N Engl J Med
, vol.330
, pp. 913-919
-
-
Kelly, D.P.1
Strauss, A.W.2
-
7
-
-
0022884343
-
Primary (genetic) cardiomyopathies in infancy: A survey of possible disorders and guidelines for diagnosis
-
Kohlschutter A, Hausdorf G. Primary (genetic) cardiomyopathies in infancy: a survey of possible disorders and guidelines for diagnosis. Eur J Pediatr. 1986;145:454-459.
-
(1986)
Eur J Pediatr
, vol.145
, pp. 454-459
-
-
Kohlschutter, A.1
Hausdorf, G.2
-
9
-
-
0002243966
-
Cardiac manifestations of genetic disease
-
Emmanouilides GC, Riemenschneider TA, Allen HD, Gutgesell HP, eds. Baltimore, Md: Williams & Wilkins;
-
Pierpont ME, Moller JH. Cardiac manifestations of genetic disease. In: Emmanouilides GC, Riemenschneider TA, Allen HD, Gutgesell HP, eds. Moss and Adams Heart Disease in Infants, Children, and Adolescents. 5th ed. Baltimore, Md: Williams & Wilkins; 1995; 2:1486-1520.
-
(1995)
Moss and Adams Heart Disease in Infants, Children, and Adolescents. 5th Ed.
, vol.2
, pp. 1486-1520
-
-
Pierpont, M.E.1
Moller, J.H.2
-
10
-
-
0001290286
-
Report of the WHO/ISFC Task Force on the Definition and Classification of Cardiomyopathies
-
Brandenburg RO, Chazov E, Cherian G, Falase AO, Grosgogeat Y, Kawai C, Loogen F, Judez VM, Orinius E, Goodwin JF, Olsen EGJ, Oakley CM, Pisa Z. Report of the WHO/ISFC Task Force on the Definition and Classification of Cardiomyopathies. Circulation. 1981;64:437A-438A.
-
(1981)
Circulation
, vol.64
-
-
Brandenburg, R.O.1
Chazov, E.2
Cherian, G.3
Falase, A.O.4
Grosgogeat, Y.5
Kawai, C.6
Loogen, F.7
Judez, V.M.8
Orinius, E.9
Goodwin, J.F.10
Olsen, E.11
Oakley, C.M.12
Pisa, Z.13
-
11
-
-
0026057272
-
Cardiomyopathy: A necessary revision of the WHO classification
-
Boffa GM, Thiene G, Nava A, Volta SD. Cardiomyopathy: a necessary revision of the WHO classification. Int J Cardiol. 1991; 30:1-7.
-
(1991)
Int J Cardiol
, vol.30
, pp. 1-7
-
-
Boffa, G.M.1
Thiene, G.2
Nava, A.3
Volta, S.D.4
-
12
-
-
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, Olsen E, Thiene G, Goodwin J, Gyarfas I, Martin I, Nordet P. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation. 1996; 93:841-842.
-
(1996)
Circulation
, vol.93
, pp. 841-842
-
-
Richardson, P.1
McKenna, W.2
Bristow, M.3
Maisch, B.4
Mautner, B.5
O'Connell, J.6
Olsen, E.7
Thiene, G.8
Goodwin, J.9
Gyarfas, I.10
Martin, I.11
Nordet, P.12
-
13
-
-
0000591152
-
Uncommon myocardial diseases, the noncoronary cardiomyopathies
-
Brigden W. Uncommon myocardial diseases, the noncoronary cardiomyopathies. Lancet. 1957;2:1179-1184.
-
(1957)
Lancet
, vol.2
, pp. 1179-1184
-
-
Brigden, W.1
-
15
-
-
10244231728
-
Cardiomyopathies in infants and children
-
Moss AJ, ed. New York, NY: Elsevier Science Publishing Co
-
Perloff JK. Cardiomyopathies in infants and children. In: Moss AJ, ed. Pediatrics Update: Reviews for Physicians. New York, NY: Elsevier Science Publishing Co; 1985:187-204.
-
(1985)
Pediatrics Update: Reviews for Physicians
, pp. 187-204
-
-
Perloff, J.K.1
-
16
-
-
0026541618
-
Developmental modulation of myocardial mechanics: Age and growth related alterations in afterload and contractility
-
Colan SD, Parness IA, Spevak PJ, Sanders SP. Developmental modulation of myocardial mechanics: age and growth related alterations in afterload and contractility. J Am Coll Cardiol. 1992;19:619-629.
-
(1992)
J Am Coll Cardiol
, vol.19
, pp. 619-629
-
-
Colan, S.D.1
Parness, I.A.2
Spevak, P.J.3
Sanders, S.P.4
-
17
-
-
0028046479
-
Limitations of fractional shortening as an index of contractility in pediatric patients infected with human immunodeficiency virus
-
Lipshultz SE, Orav EJ, Sanders SP, McIntosh K, Colan SD. Limitations of fractional shortening as an index of contractility in pediatric patients infected with human immunodeficiency virus. J Pediatr. 1994;125:563-570.
-
(1994)
J Pediatr
, vol.125
, pp. 563-570
-
-
Lipshultz, S.E.1
Orav, E.J.2
Sanders, S.P.3
McIntosh, K.4
Colan, S.D.5
-
18
-
-
0017179896
-
Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart)
-
Rees A, Elbl F, Minhas K, Silinger R. Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart). Am J Cardiol. 1976;37:1103-1106.
-
(1976)
Am J Cardiol
, vol.37
, pp. 1103-1106
-
-
Rees, A.1
Elbl, F.2
Minhas, K.3
Silinger, R.4
-
20
-
-
0027049711
-
Glycogen storage disease type III (glucogen debranching enzyme deficiency): Correction of biochemical defects with myopathy and cardiomyopathy
-
Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT. Glycogen storage disease type III (glucogen debranching enzyme deficiency): correction of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med. 1992;116:896-900.
-
(1992)
Ann Intern Med
, vol.116
, pp. 896-900
-
-
Coleman, R.A.1
Winter, H.S.2
Wolf, B.3
Gilchrist, J.M.4
Chen, Y.T.5
-
21
-
-
0015380392
-
Gross cardiac involvement in glycogen storage disease type III
-
Miller CG, Alleyne GA, Brooks SEH. Gross cardiac involvement in glycogen storage disease type III. Br Heart J. 1972;34:862-864.
-
(1972)
Br Heart J
, vol.34
, pp. 862-864
-
-
Miller, C.G.1
Alleyne, G.A.2
Brooks, S.E.H.3
-
22
-
-
0023278638
-
Severe cardiopathy in branching enzyme deficiency
-
Servidei S, Riepe RE, Langston C, Tani LY, Bricker JT, Crisp-Lindgren N, Travers H, Armstrong D, DiMauro S. Severe cardiopathy in branching enzyme deficiency. J Pediatr. 1987;111:51-56.
-
(1987)
J Pediatr
, vol.111
, pp. 51-56
-
-
Servidei, S.1
Riepe, R.E.2
Langston, C.3
Tani, L.Y.4
Bricker, J.T.5
Crisp-Lindgren, N.6
Travers, H.7
Armstrong, D.8
DiMauro, S.9
-
23
-
-
0021964786
-
Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: A new type of glycogen storage disease
-
Eishi Y, Takemura T, Sone R, Yamamura H, Narisawa K, Ichinohasama R, Tanaka M, Hatakeyama S. Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease. Hum Pathol. 1985;16:193-197.
-
(1985)
Hum Pathol
, vol.16
, pp. 193-197
-
-
Eishi, Y.1
Takemura, T.2
Sone, R.3
Yamamura, H.4
Narisawa, K.5
Ichinohasama, R.6
Tanaka, M.7
Hatakeyama, S.8
-
24
-
-
0023940227
-
Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency
-
Servidei S, Metlay LA, Chodosh J, DiMauro S. Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. J Pediatr. 1988;113:82-85.
-
(1988)
J Pediatr
, vol.113
, pp. 82-85
-
-
Servidei, S.1
Metlay, L.A.2
Chodosh, J.3
DiMauro, S.4
-
25
-
-
0024571470
-
Glycogen storage disease with normal acid maltase: Skeletal and cardiac muscle
-
Tachi N, Tachi M, Sasaki K. Glycogen storage disease with normal acid maltase: skeletal and cardiac muscle. Pediatr Neurol. 1989; 5:60-63.
-
(1989)
Pediatr Neurol
, vol.5
, pp. 60-63
-
-
Tachi, N.1
Tachi, M.2
Sasaki, K.3
-
26
-
-
0023222818
-
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy
-
Hart ZH, Servidei S, Peterson PL, Chang CH, DiMauro S. Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Neurology. 1987;37:1065-1068.
-
(1987)
Neurology
, vol.37
, pp. 1065-1068
-
-
Hart, Z.H.1
Servidei, S.2
Peterson, P.L.3
Chang, C.H.4
DiMauro, S.5
-
28
-
-
0017145225
-
The heart in the Hurler syndrome: Gross, histologic and ultrastructural observations in five necropsy cases
-
Renteria VG, Ferrans VJ, Roberts WC. The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases. Am J Cardiol. 1976;38:487-501.
-
(1976)
Am J Cardiol
, vol.38
, pp. 487-501
-
-
Renteria, V.G.1
Ferrans, V.J.2
Roberts, W.C.3
-
29
-
-
0023760034
-
Echocardiographic abnormalities in the mucopolysaccharide storage diseases
-
Gross DM, Williams JC, Caprioli C, Dominguez B, Howell RR. Echocardiographic abnormalities in the mucopolysaccharide storage diseases. Am J Cardiol. 1988;61:170-176.
-
(1988)
Am J Cardiol
, vol.61
, pp. 170-176
-
-
Gross, D.M.1
Williams, J.C.2
Caprioli, C.3
Dominguez, B.4
Howell, R.R.5
-
30
-
-
0026499956
-
Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis type VI
-
Hayflick S, Rowe S, Kavanaugh-McHugh A, Olson JL, Valle D. Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis type VI. J Pediatr. 1992;120:269-272.
-
(1992)
J Pediatr
, vol.120
, pp. 269-272
-
-
Hayflick, S.1
Rowe, S.2
Kavanaugh-McHugh, A.3
Olson, J.L.4
Valle, D.5
-
31
-
-
0020685686
-
Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure
-
Miller G, Partridge A. Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure. Pediatr Cardiol. 1983;4:61-62.
-
(1983)
Pediatr Cardiol
, vol.4
, pp. 61-62
-
-
Miller, G.1
Partridge, A.2
-
32
-
-
19144365761
-
Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII
-
Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W. Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. Am J Hum Genet. 1996;58:457-471.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 457-471
-
-
Vervoort, R.1
Islam, M.R.2
Sly, W.S.3
Zabot, M.T.4
Kleijer, W.J.5
Chabas, A.6
Fensom, A.7
Young, E.P.8
Liebaers, I.9
Lissens, W.10
-
33
-
-
0020264180
-
Hypertrophic obstructive cardiomyopathy due to Fabry's disease
-
Colucci WS, Lorell BH, Schoen FJ, Warhol MJ, Grossman W. Hypertrophic obstructive cardiomyopathy due to Fabry's disease. N Engl J Med. 1982;307:926-928.
-
(1982)
N Engl J Med
, vol.307
, pp. 926-928
-
-
Colucci, W.S.1
Lorell, B.H.2
Schoen, F.J.3
Warhol, M.J.4
Grossman, W.5
-
34
-
-
0027999384
-
Echocardiographic findings in some metabolic storage diseases
-
Senocak F, Sarclar M, Ozkutlu S. Echocardiographic findings in some metabolic storage diseases. Jpn Heart J. 1994;35:635-643.
-
(1994)
Jpn Heart J
, vol.35
, pp. 635-643
-
-
Senocak, F.1
Sarclar, M.2
Ozkutlu, S.3
-
35
-
-
0025355046
-
La maladie de Refsum: A propos de deux cas reveles par une myocardiopathie
-
Millaire A, Warembourg A, Leys D, Tison E, Tondeux S, De Groote P, Ketelers JY, Fourrier F, Petit H, Ducloux G. La maladie de Refsum: a propos de deux cas reveles par une myocardiopathie. Ann Cardiol Angeio (Paris). 1990;39:173-178.
-
(1990)
Ann Cardiol Angeio (Paris)
, vol.39
, pp. 173-178
-
-
Millaire, A.1
Warembourg, A.2
Leys, D.3
Tison, E.4
Tondeux, S.5
De Groote, P.6
Ketelers, J.Y.7
Fourrier, F.8
Petit, H.9
Ducloux, G.10
-
36
-
-
0021968285
-
Cardiac involvement in diseases characterized by β-galactosidase deficiency
-
Rosenberg H, Frewen TC, Li MD, Gordon BL, Jung JH, Finlay JP, Roy PL, Grover D, Spence N. Cardiac involvement in diseases characterized by β-galactosidase deficiency. J Pediatr. 1985;106:78-80.
-
(1985)
J Pediatr
, vol.106
, pp. 78-80
-
-
Rosenberg, H.1
Frewen, T.C.2
Li, M.D.3
Gordon, B.L.4
Jung, J.H.5
Finlay, J.P.6
Roy, P.L.7
Grover, D.8
Spence, N.9
-
37
-
-
0019973019
-
Infantile cardiomyopathy and neuropathy with β-galactosidase deficiency
-
Kohlschutter A, Sieg K, Schulte FJ, Hayek HW, Goebel HH. Infantile cardiomyopathy and neuropathy with β-galactosidase deficiency. Eur J Pediatr. 1982;139:75-81.
-
(1982)
Eur J Pediatr
, vol.139
, pp. 75-81
-
-
Kohlschutter, A.1
Sieg, K.2
Schulte, F.J.3
Hayek, H.W.4
Goebel, H.H.5
-
38
-
-
0016254235
-
Cardiac involvement in Sandhoff's disease
-
Blieden LC, Desnick RJ, Carter JB, Krivit W, Moller JH, Sharp HL. Cardiac involvement in Sandhoff's disease. Am J Cardiol. 1974; 34:83-88.
-
(1974)
Am J Cardiol
, vol.34
, pp. 83-88
-
-
Blieden, L.C.1
Desnick, R.J.2
Carter, J.B.3
Krivit, W.4
Moller, J.H.5
Sharp, H.L.6
-
39
-
-
0027093881
-
Hypertrophic obstructive cardiomyopathy in a neonate with carbohydrate-deficient glycoprotein syndrome
-
Clayton PT, Winchester BG, Keir G. Hypertrophic obstructive cardiomyopathy in a neonate with carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis. 1992;15:857-861.
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 857-861
-
-
Clayton, P.T.1
Winchester, B.G.2
Keir, G.3
-
40
-
-
0025830024
-
Reversal of cardiac dysfunction secondary to type 1 primary hyperoxaluria after combined liver-kidney transplantation
-
Rodby RA, Tyszka TS, Williams JW. Reversal of cardiac dysfunction secondary to type 1 primary hyperoxaluria after combined liver-kidney transplantation. Am J Med. 1991;90:498-504.
-
(1991)
Am J Med
, vol.90
, pp. 498-504
-
-
Rodby, R.A.1
Tyszka, T.S.2
Williams, J.W.3
-
41
-
-
0019981859
-
Hypertrophic cardiomyopathy is a component of subacute necrotizing encephalomyelopathy
-
Rutledge JC, Haas JE, Monnat R, Milstein JM. Hypertrophic cardiomyopathy is a component of subacute necrotizing encephalomyelopathy. J Pediatr. 1982;101:706-710.
-
(1982)
J Pediatr
, vol.101
, pp. 706-710
-
-
Rutledge, J.C.1
Haas, J.E.2
Monnat, R.3
Milstein, J.M.4
-
42
-
-
0023196089
-
Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of the mitochondrial electron transport: Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy
-
Hoppel CL, Kerr DS, Dahms B, Roessman U. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of the mitochondrial electron transport: fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. J Clin Invest. 1987;80:71-77.
-
(1987)
J Clin Invest
, vol.80
, pp. 71-77
-
-
Hoppel, C.L.1
Kerr, D.S.2
Dahms, B.3
Roessman, U.4
-
43
-
-
0027954897
-
Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency
-
Reichmann H, Angelini C. Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency. Eur Neurol. 1993; 34:95-98.
-
(1993)
Eur Neurol
, vol.34
, pp. 95-98
-
-
Reichmann, H.1
Angelini, C.2
-
44
-
-
0021186586
-
Histiocytoid cardiomyopathy of infancy: Deficiency of reducible cytochrome b in heart mitochondria
-
Papadimitriou A, Neustein HB, DiMauro S, Stanton R, Bresolin N. Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria. Pediatr Res. 1984;18:1023-1028.
-
(1984)
Pediatr Res
, vol.18
, pp. 1023-1028
-
-
Papadimitriou, A.1
Neustein, H.B.2
DiMauro, S.3
Stanton, R.4
Bresolin, N.5
-
45
-
-
0019920381
-
Cytochrome c oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy
-
Rimoldi M, Bottacchi E, Rossi L, Cornelio F, Uziel G, Di Donato S. Cytochrome c oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy. J Neurol. 1982;227:201-207.
-
(1982)
J Neurol
, vol.227
, pp. 201-207
-
-
Rimoldi, M.1
Bottacchi, E.2
Rossi, L.3
Cornelio, F.4
Uziel, G.5
Di Donato, S.6
-
46
-
-
0022975558
-
Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency
-
Zeviani M, Van Dyke DH, Servidei S, Bauserman SC, Bonilla E, Beaumont ET, Sharda J, VanderLaan K, DiMauro S. Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. Arch Neurol. 1986;43:1198-1202.
-
(1986)
Arch Neurol
, vol.43
, pp. 1198-1202
-
-
Zeviani, M.1
Van Dyke, D.H.2
Servidei, S.3
Bauserman, S.C.4
Bonilla, E.5
Beaumont, E.T.6
Sharda, J.7
Vanderlaan, K.8
DiMauro, S.9
-
47
-
-
0026494691
-
Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria
-
Holme E, Greter J, Jacobson CE, Larsson NG, Lindstedt S, Nilsson KO, Oldfors A, Tulinius M. Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. Pediatr Res. 1992; 32:731-735.
-
(1992)
Pediatr Res
, vol.32
, pp. 731-735
-
-
Holme, E.1
Greter, J.2
Jacobson, C.E.3
Larsson, N.G.4
Lindstedt, S.5
Nilsson, K.O.6
Oldfors, A.7
Tulinius, M.8
-
48
-
-
0028355321
-
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)
-
Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). Am J Med Genet. 1994;50:265-271.
-
(1994)
Am J Med Genet
, vol.50
, pp. 265-271
-
-
Pastores, G.M.1
Santorelli, F.M.2
Shanske, S.3
Gelb, B.D.4
Fyfe, B.5
Wolfe, D.6
Willner, J.P.7
-
49
-
-
0028918471
-
Cardiac involvement in mitochondrial diseases: A study on 17 patients with documented mitochondrial DNA defects
-
Anan R, Nakagawa M, Miyata M, Higuchi I, Nakao S, Suehara M, Osame M, Tanaka H. Cardiac involvement in mitochondrial diseases: a study on 17 patients with documented mitochondrial DNA defects. Circulation. 1995;91:955-961.
-
(1995)
Circulation
, vol.91
, pp. 955-961
-
-
Anan, R.1
Nakagawa, M.2
Miyata, M.3
Higuchi, I.4
Nakao, S.5
Suehara, M.6
Osame, M.7
Tanaka, H.8
-
50
-
-
0027174565
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) decrease in diastolic left ventricular function assessed by echocardiography
-
Suzuki Y, Harada K, Miura Y, Sato W, Hayasaka K, Kawamura K, Takada G. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) decrease in diastolic left ventricular function assessed by echocardiography. Pediatr Cardiol. 1993;14:162-166.
-
(1993)
Pediatr Cardiol
, vol.14
, pp. 162-166
-
-
Suzuki, Y.1
Harada, K.2
Miura, Y.3
Sato, W.4
Hayasaka, K.5
Kawamura, K.6
Takada, G.7
-
51
-
-
0026660498
-
Mitochondrial tRNA Leu mutation in fatal cardiomyopathy
-
Taniike M, Fukushima H, Yanagihara I, Tsukamoto H, Tanaka J, Fujimura H, Nagai T, Sano T, Yamaoka K, Inui K, Okada S. Mitochondrial tRNA Leu mutation in fatal cardiomyopathy. Biochem Biophys Res Commun. 1992;186:47-53.
-
(1992)
Biochem Biophys Res Commun
, vol.186
, pp. 47-53
-
-
Taniike, M.1
Fukushima, H.2
Yanagihara, I.3
Tsukamoto, H.4
Tanaka, J.5
Fujimura, H.6
Nagai, T.7
Sano, T.8
Yamaoka, K.9
Inui, K.10
Okada, S.11
-
52
-
-
0028012201
-
A new mtDNA mutation in the tRNA(Leu [UUR]) gene associated with maternally inherited cardiomyopathy
-
Silvestri G, Santorelli FM, Shanske S, Whitley CB, Schimmenti LA, Smith SA, DiMauro S. A new mtDNA mutation in the tRNA(Leu [UUR]) gene associated with maternally inherited cardiomyopathy. Hum Mutation. 1994;3:37-43.
-
(1994)
Hum Mutation
, vol.3
, pp. 37-43
-
-
Silvestri, G.1
Santorelli, F.M.2
Shanske, S.3
Whitley, C.B.4
Schimmenti, L.A.5
Smith, S.A.6
DiMauro, S.7
-
53
-
-
0028070162
-
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA (glycine) gene
-
Merante F, Tein I, Benson L, Robinson BH. Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA (glycine) gene. Am J Hum Genet. 1994;55:437-446.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 437-446
-
-
Merante, F.1
Tein, I.2
Benson, L.3
Robinson, B.H.4
-
55
-
-
0026002054
-
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies
-
Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, Gellera C, DiMauro S, DiDonato S, Tonali P. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology. 1991;41:1053-1059.
-
(1991)
Neurology
, vol.41
, pp. 1053-1059
-
-
Servidei, S.1
Zeviani, M.2
Manfredi, G.3
Ricci, E.4
Silvestri, G.5
Bertini, E.6
Gellera, C.7
DiMauro, S.8
Didonato, S.9
Tonali, P.10
-
56
-
-
0025951140
-
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
-
Kelley RI, Cheatham JP, Clarke BJ, Nigro MA, Powell BR, Sherwood GW, Sladky JT, Swisher WP. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr. 1991;119:738-747.
-
(1991)
J Pediatr
, vol.119
, pp. 738-747
-
-
Kelley, R.I.1
Cheatham, J.P.2
Clarke, B.J.3
Nigro, M.A.4
Powell, B.R.5
Sherwood, G.W.6
Sladky, J.T.7
Swisher, W.P.8
-
57
-
-
0026554441
-
Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement
-
Figarella-Branger D, Pellissier JF, Scheinere, Wernert F, Desnuelle C. Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci. 1992;108:105-113.
-
(1992)
J Neurol Sci
, vol.108
, pp. 105-113
-
-
Figarella-Branger, D.1
Pellissier, J.F.2
Scheinere3
Wernert, F.4
Desnuelle, C.5
-
58
-
-
0344145035
-
Sengers disease with deficiency of complexes I and IV
-
Abstract
-
Servidei S, Dionisi-Vici C, Bertini E. Sengers disease with deficiency of complexes I and IV. Ital J Neurol Sci. 1990;11:194. Abstract.
-
(1990)
Ital J Neurol Sci
, vol.11
, pp. 194
-
-
Servidei, S.1
Dionisi-Vici, C.2
Bertini, E.3
-
59
-
-
0023025901
-
Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy
-
Cruysberg JRM, Sengers RCA, Pinckers A, Kubat K, van Haelst UJGM. Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy. Am J Ophthalmol. 1986;102:740-749.
-
(1986)
Am J Ophthalmol
, vol.102
, pp. 740-749
-
-
Cruysberg, J.R.M.1
Sengers, R.C.A.2
Pinckers, A.3
Kubat, K.4
Van Haelst, U.J.G.M.5
-
60
-
-
0027238720
-
Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiency
-
Romero NB, Marsac C, Paturneau-Jouas M, Ogier H, Magnier S, Fardeau M. Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiency. Neuromuscul Disord. 1993;3:31-42.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 31-42
-
-
Romero, N.B.1
Marsac, C.2
Paturneau-Jouas, M.3
Ogier, H.4
Magnier, S.5
Fardeau, M.6
-
61
-
-
0023926348
-
Cardiac manifestations in disorders of fat and carnitine metabolism in infancy
-
Toshihiro I, Sherwood G, Benson LN, Wilson GJ, Freedom RM, Rowe RD. Cardiac manifestations in disorders of fat and carnitine metabolism in infancy. J Am Coll Cardiol. 1988;11:1301-1308.
-
(1988)
J Am Coll Cardiol
, vol.11
, pp. 1301-1308
-
-
Toshihiro, I.1
Sherwood, G.2
Benson, L.N.3
Wilson, G.J.4
Freedom, R.M.5
Rowe, R.D.6
-
62
-
-
0019830914
-
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: A treatable cardiomyopathy
-
Tripp ME, Katcher ML, Peters HA, Gilbert EF, Arya S, Hodach RJ, Shug AL. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. N Engl J Med. 1981;305:385-390.
-
(1981)
N Engl J Med
, vol.305
, pp. 385-390
-
-
Tripp, M.E.1
Katcher, M.L.2
Peters, H.A.3
Gilbert, E.F.4
Arya, S.5
Hodach, R.J.6
Shug, A.L.7
-
63
-
-
0023618030
-
Muscle carnitine deficiency presenting as familial fatal cardiomyopathy
-
Colin AA, Jaffe M, Shapira Y, Ne'eman Z, Gitman A, Korman S. Muscle carnitine deficiency presenting as familial fatal cardiomyopathy. Arch Dis Child. 1987;62:1170-1172.
-
(1987)
Arch Dis Child
, vol.62
, pp. 1170-1172
-
-
Colin, A.A.1
Jaffe, M.2
Shapira, Y.3
Ne'eman, Z.4
Gitman, A.5
Korman, S.6
-
64
-
-
0025218029
-
Familial hypertrophic cardiomyopathy and muscle carnitine deficiency
-
Bautista J, Rafel E, Martinez A, Sainz I, Herrera J, Segura L, Chinchon I. Familial hypertrophic cardiomyopathy and muscle carnitine deficiency. Muscle Nerve. 1990;13:192-194.
-
(1990)
Muscle Nerve
, vol.13
, pp. 192-194
-
-
Bautista, J.1
Rafel, E.2
Martinez, A.3
Sainz, I.4
Herrera, J.5
Segura, L.6
Chinchon, I.7
-
65
-
-
0026410146
-
Lethal neonatal multiorgan deficiency of carnitine palmitoyl transferase II
-
Hug G, Bove KE, Soukup S. Lethal neonatal multiorgan deficiency of carnitine palmitoyl transferase II. N Engl J Med. 1991;325:1862-1864.
-
(1991)
N Engl J Med
, vol.325
, pp. 1862-1864
-
-
Hug, G.1
Bove, K.E.2
Soukup, S.3
-
66
-
-
0026703357
-
A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane
-
Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefort JP. A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med. 1992;327:19-23.
-
(1992)
N Engl J Med
, vol.327
, pp. 19-23
-
-
Stanley, C.A.1
Hale, D.E.2
Berry, G.T.3
Deleeuw, S.4
Boxer, J.5
Bonnefort, J.P.6
-
67
-
-
0027207327
-
Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency
-
Yamaguchi S, Indo Y, Coates PM, Hashimoto T, Tanaka K. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 1993;34:111-113.
-
(1993)
Pediatr Res
, vol.34
, pp. 111-113
-
-
Yamaguchi, S.1
Indo, Y.2
Coates, P.M.3
Hashimoto, T.4
Tanaka, K.5
-
68
-
-
0026096951
-
Hypoglycemia, hypotonia, and cardiomyopathy: The evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency
-
Treem WR, Stanley CA, Hale DE, Leopold HB, Hyams JS. Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency. Pediatrics. 1991;87:328-333.
-
(1991)
Pediatrics
, vol.87
, pp. 328-333
-
-
Treem, W.R.1
Stanley, C.A.2
Hale, D.E.3
Leopold, H.B.4
Hyams, J.S.5
-
69
-
-
0025242644
-
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood
-
Rocchiccioli F, Wanders RJA, Aubourg P, Vianey-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres PF. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res. 1990;28:657-662.
-
(1990)
Pediatr Res
, vol.28
, pp. 657-662
-
-
Rocchiccioli, F.1
Wanders, R.J.A.2
Aubourg, P.3
Vianey-Liaud, C.4
Ijlst, L.5
Fabre, M.6
Cartier, N.7
Bougneres, P.F.8
-
70
-
-
0026076169
-
Short chain-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy
-
Tein I, DeVivo DC, Hale DE, Clarke JT, Zinman H, Laxer R, Shore A, DiMauro S. Short chain-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. Ann Neurol. 1991;30:415-419.
-
(1991)
Ann Neurol
, vol.30
, pp. 415-419
-
-
Tein, I.1
DeVivo, D.C.2
Hale, D.E.3
Clarke, J.T.4
Zinman, H.5
Laxer, R.6
Shore, A.7
DiMauro, S.8
-
71
-
-
0020528080
-
Multiple acyl-CoA dehydrogenase deficiency (MADD) in a boy with non-ketotic hypoglycemia, hepatomegaly, muscle hypotonia, and cardiomyopathy: Detection of N-isovalerylglutaric acid and its monoamide
-
Niederwieser A, Steinmann B, Exner U, Neuheiser F, Redweik U, Wang M, Rampini S, Wendel U. Multiple acyl-CoA dehydrogenase deficiency (MADD) in a boy with non-ketotic hypoglycemia, hepatomegaly, muscle hypotonia, and cardiomyopathy: detection of N-isovalerylglutaric acid and its monoamide. Helv Pediatr Acta. 1983;38:9-26.
-
(1983)
Helv Pediatr Acta
, vol.38
, pp. 9-26
-
-
Niederwieser, A.1
Steinmann, B.2
Exner, U.3
Neuheiser, F.4
Redweik, U.5
Wang, M.6
Rampini, S.7
Wendel, U.8
-
72
-
-
0027233542
-
Cardiomyopathy in propionic acidemia
-
Massoud AF, Leonard JV. Cardiomyopathy in propionic acidemia. Eur J Pediatr. 1993;152:441-445.
-
(1993)
Eur J Pediatr
, vol.152
, pp. 441-445
-
-
Massoud, A.F.1
Leonard, J.V.2
-
74
-
-
0027236672
-
Malonic aciduria and cardiomyopathy
-
Matalon R, Michaels K, Kaul R, Whitman V, Rodriguez-Novo J, Goodman S, Thornburn D. Malonic aciduria and cardiomyopathy. J Inherit Metab Dis. 1993;16:571-573.
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 571-573
-
-
Matalon, R.1
Michaels, K.2
Kaul, R.3
Whitman, V.4
Rodriguez-Novo, J.5
Goodman, S.6
Thornburn, D.7
-
75
-
-
0019773985
-
Congestive cardiomyopathy associated with β-ketothiolase deficiency
-
Henry CG, Strauss AW, Keating JP, Hillman RE. Congestive cardiomyopathy associated with β-ketothiolase deficiency. J Pediatr. 1981;99:754-757.
-
(1981)
J Pediatr
, vol.99
, pp. 754-757
-
-
Henry, C.G.1
Strauss, A.W.2
Keating, J.P.3
Hillman, R.E.4
-
76
-
-
0027529504
-
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
-
Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K, Trefz FK, Rating D, Bremer HJ, Nyhan WL. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics. 1993;91:915-921.
-
(1993)
Pediatrics
, vol.91
, pp. 915-921
-
-
Hoffmann, G.F.1
Charpentier, C.2
Mayatepek, E.3
Mancini, J.4
Leichsenring, M.5
Gibson, K.M.6
Divry, P.7
Hrebicek, M.8
Lehnert, W.9
Sartor, K.10
Trefz, F.K.11
Rating, D.12
Bremer, H.J.13
Nyhan, W.L.14
-
77
-
-
0023196410
-
Tyrosinaemia type I and hypertrophic obstructive cardiomyopathy
-
Edwards MA, Green A, Colli A, Rylance G. Tyrosinaemia type I and hypertrophic obstructive cardiomyopathy. Lancet. 1987;1: 1437-1438.
-
(1987)
Lancet
, vol.1
, pp. 1437-1438
-
-
Edwards, M.A.1
Green, A.2
Colli, A.3
Rylance, G.4
-
78
-
-
0023133725
-
Noonan syndrome
-
Allanson J. Noonan syndrome. J Pediatr. 1987;24:9-13.
-
(1987)
J Pediatr
, vol.24
, pp. 9-13
-
-
Allanson, J.1
-
79
-
-
0027393667
-
Genetic counselling in Noonan syndrome
-
Sharland M, Morgan M, Smith G, Burch M, Patton MA. Genetic counselling in Noonan syndrome. Am J Med Genet. 1993;45: 437-440.
-
(1993)
Am J Med Genet
, vol.45
, pp. 437-440
-
-
Sharland, M.1
Morgan, M.2
Smith, G.3
Burch, M.4
Patton, M.A.5
-
81
-
-
0020740354
-
Unifying link between Noonan's syndrome and LEOPARD syndrome?
-
Blieden LC, Schneeweiss A, Shem-Tov A, Feigel A, Neufeld HN. Unifying link between Noonan's syndrome and LEOPARD syndrome? Pediatr Cardiol. 1983;4:168-169.
-
(1983)
Pediatr Cardiol
, vol.4
, pp. 168-169
-
-
Blieden, L.C.1
Schneeweiss, A.2
Shem-Tov, A.3
Feigel, A.4
Neufeld, H.N.5
-
82
-
-
0019353027
-
Hypertrophic obstructive cardiomyopathy and lentiginosis: A little known neural ectodermal syndrome
-
St. John Sutton MG, Tajik AJ, Giuliani ER, Gordon H, Su WP. Hypertrophic obstructive cardiomyopathy and lentiginosis: a little known neural ectodermal syndrome. Am J Cardiol. 1981;47: 215-217.
-
(1981)
Am J Cardiol
, vol.47
, pp. 215-217
-
-
St John Sutton, M.G.1
Tajik, A.J.2
Giuliani, E.R.3
Gordon, H.4
Su, W.P.5
-
83
-
-
0023774335
-
Cardiac abnormalities in neurofibromatosis
-
Lin AE, Garver KL. Cardiac abnormalities in neurofibromatosis. Neurofibromatosis. 1988;1:146-151.
-
(1988)
Neurofibromatosis
, vol.1
, pp. 146-151
-
-
Lin, A.E.1
Garver, K.L.2
-
84
-
-
0017343321
-
Cardiovascular abnormalities in the Beckwith-Wiedemann syndrome
-
Greenwood RD, Sommer A, Rosenthal A, Craenen J, Nadas AS. Cardiovascular abnormalities in the Beckwith-Wiedemann syndrome. Am J Dis Child. 1977;131:293-294.
-
(1977)
Am J Dis Child
, vol.131
, pp. 293-294
-
-
Greenwood, R.D.1
Sommer, A.2
Rosenthal, A.3
Craenen, J.4
Nadas, A.S.5
-
85
-
-
0024848088
-
Reversible obstructive hypertrophic cardiomyopathy in the Beckwith-Wiedemann syndrome
-
Ryan CA, Boyle MH, Burggraf GW. Reversible obstructive hypertrophic cardiomyopathy in the Beckwith-Wiedemann syndrome. Pediatr Cardiol 1989;10:225-228.
-
(1989)
Pediatr Cardiol
, vol.10
, pp. 225-228
-
-
Ryan, C.A.1
Boyle, M.H.2
Burggraf, G.W.3
-
86
-
-
0344267137
-
Lethal hypertrophic cardiomyopathy in one of two half-sibs with Beckwith-Wiedemann syndrome
-
Chitayat D, Meuneir C, Hortop J, Beland M, Pinsky L, Zaor S, Der Kaloustian V, Robb L, Weksberg R. Lethal hypertrophic cardiomyopathy in one of two half-sibs with Beckwith-Wiedemann syndrome. Proc Greenwood Genet Ctr. 1993;12:91-92.
-
(1993)
Proc Greenwood Genet Ctr
, vol.12
, pp. 91-92
-
-
Chitayat, D.1
Meuneir, C.2
Hortop, J.3
Beland, M.4
Pinsky, L.5
Zaor, S.6
Der Kaloustian, V.7
Robb, L.8
Weksberg, R.9
-
87
-
-
10244231769
-
Familial cardiomyopathy, telecanthus and associated anomalies
-
Abstract
-
Brunner HG, Kapusta L. Familial cardiomyopathy, telecanthus and associated anomalies. Proc Greenwood Genet Ctr. 1990;9:94. Abstract.
-
(1990)
Proc Greenwood Genet Ctr
, vol.9
, pp. 94
-
-
Brunner, H.G.1
Kapusta, L.2
-
88
-
-
0023183039
-
Hypertrophic cardiomyopathy associated with congenital deaf-mutism
-
Csanady M, Hogye M, Forster T. Hypertrophic cardiomyopathy associated with congenital deaf-mutism. Eur Heart J. 1987;8: 528-534.
-
(1987)
Eur Heart J
, vol.8
, pp. 528-534
-
-
Csanady, M.1
Hogye, M.2
Forster, T.3
-
89
-
-
10244268686
-
Cardiac abnormalities in the Rubenstein-Taybi syndrome
-
Abstract
-
Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubenstein-Taybi syndrome. Proc Greenwood Genet Ctr. 1994;13:113. Abstract.
-
(1994)
Proc Greenwood Genet Ctr
, vol.13
, pp. 113
-
-
Stevens, C.A.1
Bhakta, M.G.2
-
90
-
-
0026784409
-
Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of Malouf syndrome
-
Narahara K, Kamada M, Takahashi Y, Tsuji K, Yokoyama Y, Ninomiya S, Seino Y. Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of Malouf syndrome. Am J Med Genet. 1992;44:369-373.
-
(1992)
Am J Med Genet
, vol.44
, pp. 369-373
-
-
Narahara, K.1
Kamada, M.2
Takahashi, Y.3
Tsuji, K.4
Yokoyama, Y.5
Ninomiya, S.6
Seino, Y.7
-
92
-
-
0022483542
-
Cardiac abnormalities in familial palmoplantar keratosis
-
Protonotarios N, Tsatsopoulou A, Patsourakos P, Alexopoulos D, Gezerlis P, Simitsis S, Scampardonis G. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J. 1986;56:321-326.
-
(1986)
Br Heart J
, vol.56
, pp. 321-326
-
-
Protonotarios, N.1
Tsatsopoulou, A.2
Patsourakos, P.3
Alexopoulos, D.4
Gezerlis, P.5
Simitsis, S.6
Scampardonis, G.7
-
93
-
-
0022891139
-
Hypertrophic cardiomyopathy in total lipodystrophy
-
Rheuban KS, Blizzard RM, Parker MA, Carter T, Wilson T, Gutgesell HP. Hypertrophic cardiomyopathy in total lipodystrophy. J Pediatr. 1986;109:301-302.
-
(1986)
J Pediatr
, vol.109
, pp. 301-302
-
-
Rheuban, K.S.1
Blizzard, R.M.2
Parker, M.A.3
Carter, T.4
Wilson, T.5
Gutgesell, H.P.6
-
94
-
-
0030584390
-
Costello syndrome: Update on the original cases and commentary
-
Costello JM. Costello syndrome: update on the original cases and commentary. Am J Med Genet. 1996;62:199-201.
-
(1996)
Am J Med Genet
, vol.62
, pp. 199-201
-
-
Costello, J.M.1
-
95
-
-
0001962398
-
Prenatal overgrowth with postnatal growth failure, dysmorphic facies, cutaneous features and cardiomyopathy: Overlap of amicable, facio-cutaneous-skeletal (FCS), and Costello (CS) syndromes
-
Abstract
-
Johnson JP, Fries MH, Norton ME, Rosenblatt R, Feldman G, Yang S, Golabi M. Prenatal overgrowth with postnatal growth failure, dysmorphic facies, cutaneous features and cardiomyopathy: overlap of amicable, facio-cutaneous-skeletal (FCS), and Costello (CS) syndromes. Proc Greenwood Genet Ctr. 1993;12:98. Abstract.
-
(1993)
Proc Greenwood Genet Ctr
, vol.12
, pp. 98
-
-
Johnson, J.P.1
Fries, M.H.2
Norton, M.E.3
Rosenblatt, R.4
Feldman, G.5
Yang, S.6
Golabi, M.7
-
96
-
-
0025006395
-
Developmental retardation with unusual facies, arthritis, and hearing impairment
-
Coffin GS. Developmental retardation with unusual facies, arthritis, and hearing impairment. Dysmorph Clin Genet. 1990;4:103-109.
-
(1990)
Dysmorph Clin Genet
, vol.4
, pp. 103-109
-
-
Coffin, G.S.1
-
97
-
-
0017744117
-
Facio-cardio-renal syndrome: A newly delineated recessive disorder
-
Eastman JR, Bixler D. Facio-cardio-renal syndrome: a newly delineated recessive disorder. Clin Genet. 1977;11:424-430.
-
(1977)
Clin Genet
, vol.11
, pp. 424-430
-
-
Eastman, J.R.1
Bixler, D.2
-
99
-
-
0029664835
-
Natural history of Alstrom syndrome in early childhood: Onset with dilated cardiomyopathy
-
Michaud JL, Heon E, Guilbert F, Weill J, Puech B, Benson L, Smallhorn JF, Shuman CT, Buncic JR, Levin AV, Weksberg R, Breviere GM. Natural history of Alstrom syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr. 1996;128: 225-229.
-
(1996)
J Pediatr
, vol.128
, pp. 225-229
-
-
Michaud, J.L.1
Heon, E.2
Guilbert, F.3
Weill, J.4
Puech, B.5
Benson, L.6
Smallhorn, J.F.7
Shuman, C.T.8
Buncic, J.R.9
Levin, A.V.10
Weksberg, R.11
Breviere, G.M.12
-
100
-
-
0027476346
-
Marden-Walker phenotype: Spectrum of variability in three infants
-
Ramer JC, Frankel CA, Ladda RL. Marden-Walker phenotype: spectrum of variability in three infants. Am J Med Genet. 1993; 45:285-291.
-
(1993)
Am J Med Genet
, vol.45
, pp. 285-291
-
-
Ramer, J.C.1
Frankel, C.A.2
Ladda, R.L.3
-
101
-
-
0021711859
-
Abnormality of cartilage collagen in a patient with unclassified chondrodystrophy
-
Sussman MD, Kelly T, Rosenbaum KN, Balian G. Abnormality of cartilage collagen in a patient with unclassified chondrodystrophy. J Orthop Res. 1984;2:339-345.
-
(1984)
J Orthop Res
, vol.2
, pp. 339-345
-
-
Sussman, M.D.1
Kelly, T.2
Rosenbaum, K.N.3
Balian, G.4
-
102
-
-
0024516525
-
Leber's congenital amaurosis: A new syndrome with cardiomyopathy
-
Russell-Eggitt IM, Taylor DSI, Clayton PT, Garner A, Kriss A, Taylor JF. Leber's congenital amaurosis: a new syndrome with cardiomyopathy. Br J Ophthalmol. 1989;73:250-254.
-
(1989)
Br J Ophthalmol
, vol.73
, pp. 250-254
-
-
Russell-Eggitt, I.M.1
Taylor, D.J.A.2
Clayton, P.T.3
Garner, A.4
Kriss, A.5
Taylor, J.F.6
-
103
-
-
10244275038
-
A new (?) X-linked connective tissue disorder with joint hyperextensibility, mild cutis laxa, skeletal anomalies and idiopathic hypertrophic subaortic stenosis
-
Char F, Readinger RI, McConnell JR, McCoy JR. A new (?) X-linked connective tissue disorder with joint hyperextensibility, mild cutis laxa, skeletal anomalies and idiopathic hypertrophic subaortic stenosis. Proc Greenwood Genet Ctr. 1987;6:174-177.
-
(1987)
Proc Greenwood Genet Ctr
, vol.6
, pp. 174-177
-
-
Char, F.1
Readinger, R.I.2
McConnell, J.R.3
McCoy, J.R.4
-
104
-
-
0027944925
-
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?
-
Bird LM, Krous HF, Eichenfeld LF, Swalwell CI, Jones MC. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? Am J Med Genet. 1994;53:141-148.
-
(1994)
Am J Med Genet
, vol.53
, pp. 141-148
-
-
Bird, L.M.1
Krous, H.F.2
Eichenfeld, L.F.3
Swalwell, C.I.4
Jones, M.C.5
-
106
-
-
0022602078
-
X-linked intellectual handicap and precocious puberty with obesity in carrier females
-
Hockey A. X-linked intellectual handicap and precocious puberty with obesity in carrier females. Am J Med Genet. 1986;23:127-137.
-
(1986)
Am J Med Genet
, vol.23
, pp. 127-137
-
-
Hockey, A.1
-
107
-
-
0019968687
-
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy
-
Gilgenkrantz S, Vigneron C, Gregoire MJ, Pernot C, Raspiller A. Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy. Am J Med Genet. 1982;13:39-49.
-
(1982)
Am J Med Genet
, vol.13
, pp. 39-49
-
-
Gilgenkrantz, S.1
Vigneron, C.2
Gregoire, M.J.3
Pernot, C.4
Raspiller, A.5
-
108
-
-
0024370324
-
Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum
-
Fryns JP, Chrzanowska K, Van den Berghe H. Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum. J Med Genet. 1989;26:520-534.
-
(1989)
J Med Genet
, vol.26
, pp. 520-534
-
-
Fryns, J.P.1
Chrzanowska, K.2
Van den Berghe, H.3
-
109
-
-
0018969627
-
Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly
-
Jennings MT, Hall JG, Kukolich M. Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly. Am J Med Genet. 1980;5:271-276.
-
(1980)
Am J Med Genet
, vol.5
, pp. 271-276
-
-
Jennings, M.T.1
Hall, J.G.2
Kukolich, M.3
-
110
-
-
0021924614
-
A familial dilated cardiomyopathy associated with cataracts and hip-spine disease
-
Krasnow N, Qazi QH, Yermakov V. A familial dilated cardiomyopathy associated with cataracts and hip-spine disease. Chest. 1985; 87:56-61.
-
(1985)
Chest
, vol.87
, pp. 56-61
-
-
Krasnow, N.1
Qazi, Q.H.2
Yermakov, V.3
-
111
-
-
0025132271
-
Ulnar agenesis and endocardial fibroelastosis
-
Maries SL, Chudley AE. Ulnar agenesis and endocardial fibroelastosis. Am J Med Genet. 1990;37:258-260.
-
(1990)
Am J Med Genet
, vol.37
, pp. 258-260
-
-
Maries, S.L.1
Chudley, A.E.2
-
112
-
-
0023841013
-
Cardiomyopathy with arrhythmia and ectodermal dysplasia: A previously unreported association
-
Hammill WH, Fyfe DA, Gillette PC, Taylor A, Dobson RL, Thompson RD. Cardiomyopathy with arrhythmia and ectodermal dysplasia: a previously unreported association. Am Heart J. 1988; 115:373-378.
-
(1988)
Am Heart J
, vol.115
, pp. 373-378
-
-
Hammill, W.H.1
Fyfe, D.A.2
Gillette, P.C.3
Taylor, A.4
Dobson, R.L.5
Thompson, R.D.6
-
113
-
-
0019156418
-
Familial cardiomyopathy, hypogonadism, and collagenoma
-
Sacks HN, Crawley S, Ward JA, Fine RM. Familial cardiomyopathy, hypogonadism, and collagenoma. Ann Intern Med. 1980;93: 813-817.
-
(1980)
Ann Intern Med
, vol.93
, pp. 813-817
-
-
Sacks, H.N.1
Crawley, S.2
Ward, J.A.3
Fine, R.M.4
-
114
-
-
85035177771
-
Unknown case: Mental retardation, craniosynostosis, multiple congenital anomalies, hypertrophic cardiomyopathy
-
August Mount Tremblant, Quebec, Canada
-
Morris CA. Unknown case: mental retardation, craniosynostosis, multiple congenital anomalies, hypertrophic cardiomyopathy. Presented at the David W. Smith Workshop on Malformations and Morphogenesis; August 1993; Mount Tremblant, Quebec, Canada.
-
(1993)
David W. Smith Workshop on Malformations and Morphogenesis
-
-
Morris, C.A.1
-
115
-
-
0027529294
-
Proteus syndrome with cardiomyopathy and a myocardial mass
-
Shaw C, Bourke J, Dixon J. Proteus syndrome with cardiomyopathy and a myocardial mass. Am J Med Genet. 1993;46:145-148.
-
(1993)
Am J Med Genet
, vol.46
, pp. 145-148
-
-
Shaw, C.1
Bourke, J.2
Dixon, J.3
-
116
-
-
0027502493
-
The cardiomyopathy of Duchenne's muscular dystrophy and the function of dystrophin
-
Cziner DG, Levin RI. The cardiomyopathy of Duchenne's muscular dystrophy and the function of dystrophin. Med Hypotheses. 1993; 40:169-173.
-
(1993)
Med Hypotheses
, vol.40
, pp. 169-173
-
-
Cziner, D.G.1
Levin, R.I.2
-
117
-
-
0026754688
-
The heart in Duchenne muscular dystrophy: A noninvasive longitudinal study
-
Backman E, Nylander E. The heart in Duchenne muscular dystrophy: a noninvasive longitudinal study. Eur Heart J. 1992;13: 1239-1244.
-
(1992)
Eur Heart J
, vol.13
, pp. 1239-1244
-
-
Backman, E.1
Nylander, E.2
-
118
-
-
0026656825
-
Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy
-
Palmucci L, Doriguzzi C, Mongini T, Chiado-Piat L, Restagno G, Carbonara A, Paolillo V. Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. J Neurol Sci. 1992; 111:218-221.
-
(1992)
J Neurol Sci
, vol.111
, pp. 218-221
-
-
Palmucci, L.1
Doriguzzi, C.2
Mongini, T.3
Chiado-Piat, L.4
Restagno, G.5
Carbonara, A.6
Paolillo, V.7
-
119
-
-
0030051194
-
Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy
-
Fadic R, Sunada Y, Waclawik AJ, Buck S, Lewandoski PJ, Campbell KP, Lotz BP. Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy. N Engl J Med. 1996;334:362-366.
-
(1996)
N Engl J Med
, vol.334
, pp. 362-366
-
-
Fadic, R.1
Sunada, Y.2
Waclawik, A.J.3
Buck, S.4
Lewandoski, P.J.5
Campbell, K.P.6
Lotz, B.P.7
-
121
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994;8:323-327.
-
(1994)
Nat Genet
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
Mancini, M.4
Regis, S.5
Romeo, G.6
Toniolo, D.7
-
122
-
-
0023949032
-
Emery-Dreifuss muscular dystrophy: Disease spectrum and differential diagnosis
-
Voit T, Krogmann O, Lenard HG, Neuen-Jacob E, Wechsler W, Goebel HH, Rahlf G, Lindinger A, Nienaber C, Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics. 1988;19:62-71.
-
(1988)
Neuropediatrics
, vol.19
, pp. 62-71
-
-
Voit, T.1
Krogmann, O.2
Lenard, H.G.3
Neuen-Jacob, E.4
Wechsler, W.5
Goebel, H.H.6
Rahlf, G.7
Lindinger, A.8
Nienaber, C.9
-
123
-
-
0023217525
-
Cardiac involvement in patients with limbgirdle muscular dystrophy
-
Hoshio A, Kotake H, Saito M, Ogino K, Fujimoto Y, Hasegawa J, Kosaka T, Mashiba H. Cardiac involvement in patients with limbgirdle muscular dystrophy. Heart Lung. 1987;16:439-441.
-
(1987)
Heart Lung
, vol.16
, pp. 439-441
-
-
Hoshio, A.1
Kotake, H.2
Saito, M.3
Ogino, K.4
Fujimoto, Y.5
Hasegawa, J.6
Kosaka, T.7
Mashiba, H.8
-
124
-
-
0028049493
-
Left ventricular structure and function by echocardiography in congenital muscular dystrophy
-
123a.Cil E, Topaloglu H, Caglar M, Qzme S. Left ventricular structure and function by echocardiography in congenital muscular dystrophy. Brain Dev. 1994;16:301-303.
-
(1994)
Brain Dev
, vol.16
, pp. 301-303
-
-
Cil, E.1
Topaloglu, H.2
Caglar, M.3
Qzme, S.4
-
125
-
-
0017143740
-
Familial centronuclear myopathy associated with 'cardiomyopathy.'
-
Verhiest W, Brucher JM, Goddeeris P, Lauweryns J, De Geest H. Familial centronuclear myopathy associated with 'cardiomyopathy.' Br Heart J. 1976;38:504-509.
-
(1976)
Br Heart J
, vol.38
, pp. 504-509
-
-
Verhiest, W.1
Brucher, J.M.2
Goddeeris, P.3
Lauweryns, J.4
De Geest, H.5
-
126
-
-
0025162191
-
Congenital nemaline myopathy with dilated cardiomyopathy: An autopsy study
-
Ishibashi-Ueda H, Imakita M, Yutani C, Takahashi S, Yamawa K, Kamiya T, Nonaka I. Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study. Hum Pathol. 1990;21:77-82.
-
(1990)
Hum Pathol
, vol.21
, pp. 77-82
-
-
Ishibashi-Ueda, H.1
Imakita, M.2
Yutani, C.3
Takahashi, S.4
Yamawa, K.5
Kamiya, T.6
Nonaka, I.7
-
128
-
-
0025179019
-
Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments
-
Bertini E, Bosman C, Bevilacqua M, Ricci E, Gagliardi GM, Parisi F, Servidei S, Dionisi-Vici C, Ballerini L. Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments. Eur J Pediatr. 1990;149:856-858.
-
(1990)
Eur J Pediatr
, vol.149
, pp. 856-858
-
-
Bertini, E.1
Bosman, C.2
Bevilacqua, M.3
Ricci, E.4
Gagliardi, G.M.5
Parisi, F.6
Servidei, S.7
Dionisi-Vici, C.8
Ballerini, L.9
-
130
-
-
0021354392
-
Friedreich's ataxia: A clinical review with neurophysiological and echocardiographic findings
-
Ackroyd RS, Finnegan JA, Green SH. Friedreich's ataxia: a clinical review with neurophysiological and echocardiographic findings. Arch Dis Child. 1984;59:217-221.
-
(1984)
Arch Dis Child
, vol.59
, pp. 217-221
-
-
Ackroyd, R.S.1
Finnegan, J.A.2
Green, S.H.3
-
131
-
-
0026704994
-
Cardiomyopathy in Friedreich's ataxia: A Doppler-echocardiographic study
-
Morvan D, Komajda M, Doan LD, Brice A, Isnard R, Seck A, Lechat P, Agid Y, Grosgogeat Y. Cardiomyopathy in Friedreich's ataxia: a Doppler-echocardiographic study. Eur Heart J. 1992;13: 1393-1398.
-
Eur Heart J 1992;13
, pp. 1393-1398
-
-
Morvan, D.1
Komajda, M.2
Doan, L.D.3
Brice, A.4
Isnard, R.5
Seck, A.6
Lechat, P.7
Agid, Y.8
Grosgogeat, Y.9
-
133
-
-
0025162753
-
A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12
-
Solomon SD, Geisterfer-Lowrance AAT, Vosberg HP, Hiller G, Jarcho JA, Morton CC, McBride WO, Mitchell AL, Bale AE, McKenna WJ, Seidman JG, Seidman CE. A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12. Am J Hum Genet. 1990;47:389-394.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 389-394
-
-
Solomon, S.D.1
Geisterfer-Lowrance, A.A.T.2
Vosberg, H.P.3
Hiller, G.4
Jarcho, J.A.5
Morton, C.C.6
McBride, W.O.7
Mitchell, A.L.8
Bale, A.E.9
McKenna, W.J.10
Seidman, J.G.11
Seidman, C.E.12
-
134
-
-
0026573969
-
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
-
Watkins H, Rosenzweig A, Hwang DS, 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
-
135
-
-
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
-
136
-
-
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
-
137
-
-
0005705795
-
Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3
-
Abstract
-
MacRae C, Ghaisas N, McGarry K, McKenna W, Seidman JG, Seidman CE. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. Circulation. 1994;90(pt 2):I-M. Abstract.
-
(1994)
Circulation
, vol.90
, Issue.PT 2
-
-
MacRae, C.1
Ghaisas, N.2
McGarry, K.3
McKenna, W.4
Seidman, J.G.5
Seidman, C.E.6
-
138
-
-
0028348826
-
Mitochondrial DNA deletions in dilated cardiomyopathy: A clinical study employing endomyocardial sampling
-
Remes AM, Hassinen IE, Ikaheimo MJ, Herva R, Hirvonen J, Peuhkurinen KJ. Mitochondrial DNA deletions in dilated cardiomyopathy: a clinical study employing endomyocardial sampling. J Am Coll Cardiol. 1994;23:935-942.
-
(1994)
J Am Coll Cardiol
, vol.23
, pp. 935-942
-
-
Remes, A.M.1
Hassinen, I.E.2
Ikaheimo, M.J.3
Herva, R.4
Hirvonen, J.5
Peuhkurinen, K.J.6
-
139
-
-
0028145745
-
A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1
-
Kass S, MacRae C, Graber HL, Sparks EA, McNamara D, Boudoulas H, Basson CT, Baker PB III, Cody RJ, Fishman MC, Cox N, Kong A, Wooley CF, Seidman JG, Seidman CE. A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1. Nat Genet. 1994;7:546-551.
-
(1994)
Nat Genet
, vol.7
, pp. 546-551
-
-
Kass, S.1
MacRae, C.2
Graber, H.L.3
Sparks, E.A.4
McNamara, D.5
Boudoulas, H.6
Basson, C.T.7
Baker III, P.B.8
Cody, R.J.9
Fishman, M.C.10
Cox, N.11
Kong, A.12
Wooley, C.F.13
Seidman, J.G.14
Seidman, C.E.15
-
140
-
-
0026642655
-
Clinical profile and outcome of restrictive cardiomyopathy in children
-
Lewis AB. Clinical profile and outcome of restrictive cardiomyopathy in children. Am Heart J. 1992;123:1589-1593.
-
(1992)
Am Heart J
, vol.123
, pp. 1589-1593
-
-
Lewis, A.B.1
-
141
-
-
0029038349
-
Idiopathic restrictive cardiomyopathy in childhood: Diagnostic features and clinical course
-
Cetta F, O'Leary PW, Seward JB, Driscoll DJ. Idiopathic restrictive cardiomyopathy in childhood: diagnostic features and clinical course. Mayo Clin Proc. 1995;70:634-640.
-
(1995)
Mayo Clin Proc
, vol.70
, pp. 634-640
-
-
Cetta, F.1
O'Leary, P.W.2
Seward, J.B.3
Driscoll, D.J.4
-
142
-
-
0019226947
-
Uhl's anomaly with rudimentary pulmonary valve leaflets: A clinical, hemodynamic, angiographic, and pathologic study
-
Kaul U, Arora R, Rani S. Uhl's anomaly with rudimentary pulmonary valve leaflets: a clinical, hemodynamic, angiographic, and pathologic study. Am Heart J. 1980;100:673-677.
-
(1980)
Am Heart J
, vol.100
, pp. 673-677
-
-
Kaul, U.1
Arora, R.2
Rani, S.3
-
143
-
-
0026703199
-
Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy
-
Gallo P, d'Amati G, Pelliccia F. Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy. Hum Pathol. 1992;23:948-952.
-
(1992)
Hum Pathol
, vol.23
, pp. 948-952
-
-
Gallo, P.1
D'Amati, G.2
Pelliccia, F.3
-
144
-
-
0028243281
-
The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24
-
Rampazzo A, Nava A, Danieli GA, Buja G, Daliento L, Fasoli G, Scognamiglio R, Corrado D, Thiene G. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet. 1994;3:959-962.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 959-962
-
-
Rampazzo, A.1
Nava, A.2
Danieli, G.A.3
Buja, G.4
Daliento, L.5
Fasoli, G.6
Scognamiglio, R.7
Corrado, D.8
Thiene, G.9
-
145
-
-
0025106446
-
Isolated noncompaction of the left ventricular myocardium: A study of eight cases
-
Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of the left ventricular myocardium: a study of eight cases. Circulation. 1990;82:507-513.
-
(1990)
Circulation
, vol.82
, pp. 507-513
-
-
Chin, T.K.1
Perloff, J.K.2
Williams, R.G.3
Jue, K.4
Mohrmann, R.5
-
146
-
-
0027265702
-
Deletion of the dystrophin muscle promoter region associated with X-linked dilated cardiomyopathy
-
Brief Report
-
Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A, Marrosu MG, Cianchetti C, Realdi G, Cao A, Melis MA. Deletion of the dystrophin muscle promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med. 1993;329:921-925. Brief Report.
-
(1993)
N Engl J Med
, vol.329
, pp. 921-925
-
-
Muntoni, F.1
Cau, M.2
Ganau, A.3
Congiu, R.4
Arvedi, G.5
Mateddu, A.6
Marrosu, M.G.7
Cianchetti, C.8
Realdi, G.9
Cao, A.10
Melis, M.A.11
-
147
-
-
0023215347
-
X-linked dilated cardiomyopathy
-
Berko BA, Swift M. X-linked dilated cardiomyopathy. N Engl J Med. 1987;316:1186-1191.
-
(1987)
N Engl J Med
, vol.316
, pp. 1186-1191
-
-
Berko, B.A.1
Swift, M.2
-
148
-
-
0027193330
-
X-linked dilated cardiomyopathy, molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
-
Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, McCabe ER, Swift M. X-linked dilated cardiomyopathy, molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation. 1993;87:1854-1865.
-
(1993)
Circulation
, vol.87
, pp. 1854-1865
-
-
Towbin, J.A.1
Hejtmancik, J.F.2
Brink, P.3
Gelb, B.4
Zhu, X.M.5
Chamberlain, J.S.6
McCabe, E.R.7
Swift, M.8
-
149
-
-
0028205186
-
Molecular genetics of dilated cardiomyopathy
-
Mestroni L, Krajinovic M, Serverini GM, Falaschi A, Giacca M, Camerini F. Molecular genetics of dilated cardiomyopathy. Herz. 1994;19:97-104.
-
(1994)
Herz
, vol.19
, pp. 97-104
-
-
Mestroni, L.1
Krajinovic, M.2
Serverini, G.M.3
Falaschi, A.4
Giacca, M.5
Camerini, F.6
-
150
-
-
0021956014
-
Genetic heterogeneity of hypertrophic cardiomyopathy
-
Branzi A, Romeo G, Specchia S, Lolli C, Binetti G, Devoto M, Bacchi M, Magnani B. Genetic heterogeneity of hypertrophic cardiomyopathy. Int J Cardiol. 1985;7:129-133.
-
(1985)
Int J Cardiol
, vol.7
, pp. 129-133
-
-
Branzi, A.1
Romeo, G.2
Specchia, S.3
Lolli, C.4
Binetti, G.5
Devoto, M.6
Bacchi, M.7
Magnani, B.8
-
151
-
-
0017383268
-
Cardiovascular anomalies in Noonan's syndrome
-
Pearl W. Cardiovascular anomalies in Noonan's syndrome. Chest. 1977;71:677-679.
-
(1977)
Chest
, vol.71
, pp. 677-679
-
-
Pearl, W.1
-
152
-
-
0016711224
-
Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome: Report of two cases
-
Hirsch HD, Gelband H, Garcia O, Gottlieb S, Tamer DM. Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome: report of two cases. Circulation. 1975;52:1161-1165.
-
(1975)
Circulation
, vol.52
, pp. 1161-1165
-
-
Hirsch, H.D.1
Gelband, H.2
Garcia, O.3
Gottlieb, S.4
Tamer, D.M.5
-
153
-
-
0024205779
-
Cardio-facial-cutaneous syndrome: A syndrome distinct from Noonan syndrome
-
Verlos A, LeMerrer M, Soyeur D. Cardio-facial-cutaneous syndrome: a syndrome distinct from Noonan syndrome. Ann Genet. 1988;31:230-234.
-
(1988)
Ann Genet
, vol.31
, pp. 230-234
-
-
Verlos, A.1
LeMerrer, M.2
Soyeur, D.3
-
154
-
-
0028077697
-
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
-
Jamieson CR, van der Burgt IV, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet. 1994;8:357-360.
-
(1994)
Nat Genet
, vol.8
, pp. 357-360
-
-
Jamieson, C.R.1
Van der Burgt, I.V.2
Brady, A.F.3
Van Reen, M.4
Elsawi, M.M.5
Hol, F.6
Jeffery, S.7
Patton, M.A.8
Mariman, E.9
-
155
-
-
0018139687
-
An ultrastructural basis for electrocardiographic alterations associated with Duchenne's progressive muscular dystrophy
-
Sanyal SK, Johnson WW, Thapar MK, Pitner SE. An ultrastructural basis for electrocardiographic alterations associated with Duchenne's progressive muscular dystrophy. Circulation. 1978;57:1122-1129.
-
(1978)
Circulation
, vol.57
, pp. 1122-1129
-
-
Sanyal, S.K.1
Johnson, W.W.2
Thapar, M.K.3
Pitner, S.E.4
-
156
-
-
0013249750
-
The electrocardiogram in progressive muscular dystrophy
-
Manning GW, Cropp GJ. The electrocardiogram in progressive muscular dystrophy. Br Heart J. 1958;20:416-420.
-
(1958)
Br Heart J
, vol.20
, pp. 416-420
-
-
Manning, G.W.1
Cropp, G.J.2
-
157
-
-
0014056078
-
The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy
-
Perloff JK, Roberts WC. The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. Am J Med. 1967;42:179-188.
-
(1967)
Am J Med
, vol.42
, pp. 179-188
-
-
Perloff, J.K.1
Roberts, W.C.2
-
158
-
-
0023879425
-
Electrocardiographic findings in myotonic dystrophy
-
Olofsson BO, Forsberg H, Andersson S, Bjerle P, Henriksson A, Wedin I. Electrocardiographic findings in myotonic dystrophy. Br Heart J. 1988;59:47-52.
-
(1988)
Br Heart J
, vol.59
, pp. 47-52
-
-
Olofsson, B.O.1
Forsberg, H.2
Andersson, S.3
Bjerle, P.4
Henriksson, A.5
Wedin, I.6
-
159
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988;16:11141-11156.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Nguyen, P.N.4
Caskey, C.T.5
-
160
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990;86:45-48.
-
(1990)
Hum Genet
, vol.86
, pp. 45-48
-
-
Beggs, A.H.1
Koenig, M.2
Boyce, F.M.3
Kunkel, L.M.4
-
161
-
-
0027374166
-
Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy
-
Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, Rana M, Tonali P. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology. 1993;43:2342-2345.
-
(1993)
Neurology
, vol.43
, pp. 2342-2345
-
-
Mirabella, M.1
Servidei, S.2
Manfredi, G.3
Ricci, E.4
Frustaci, A.5
Bertini, E.6
Rana, M.7
Tonali, P.8
-
162
-
-
0027600733
-
Backer muscular dystrophy with early manifestation of left heart failure
-
Miyashita H, Ikeda U, Shimada K, Natsume T, Arahata K. Backer muscular dystrophy with early manifestation of left heart failure. Intern Med. 1993;32:408-411.
-
(1993)
Intern Med
, vol.32
, pp. 408-411
-
-
Miyashita, H.1
Ikeda, U.2
Shimada, K.3
Natsume, T.4
Arahata, K.5
-
163
-
-
0024428185
-
Improved diagnosis of Becker muscular dystrophy by dystrophin testing
-
Hoffman EP, Kunkel LM, Angelini C, Clarke A, Johnson M, Harris JB. Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology. 1989;39:1011-1017.
-
(1989)
Neurology
, vol.39
, pp. 1011-1017
-
-
Hoffman, E.P.1
Kunkel, L.M.2
Angelini, C.3
Clarke, A.4
Johnson, M.5
Harris, J.B.6
-
164
-
-
0023906647
-
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy
-
Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, Kupsky W, Chamberlain J, Caskey Y, Shapiro F, Kunkel LM. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med. 1988;318:1363-1368.
-
(1988)
N Engl J Med
, vol.318
, pp. 1363-1368
-
-
Hoffman, E.P.1
Fischbeck, K.H.2
Brown, R.H.3
Johnson, M.4
Medori, R.5
Loike, J.D.6
Harris, J.B.7
Waterston, R.8
Brooke, M.9
Specht, L.10
Kupsky, W.11
Chamberlain, J.12
Caskey, Y.13
Shapiro, F.14
Kunkel, L.M.15
-
165
-
-
0023097550
-
Acute pulmonary edema as the inaugural symptom of Becker's muscular dystrophy in a 19-year-old patient
-
Borgeat A, Goy JJ, Sigwart U. Acute pulmonary edema as the inaugural symptom of Becker's muscular dystrophy in a 19-year-old patient. Clin Cardiol. 1987;10:127-129.
-
(1987)
Clin Cardiol
, vol.10
, pp. 127-129
-
-
Borgeat, A.1
Goy, J.J.2
Sigwart, U.3
-
166
-
-
0018488057
-
Hypertrophic cardiomyopathy: A discussion of nomenclature
-
Maron BJ, Epstein SE. Hypertrophic cardiomyopathy: a discussion of nomenclature. Am J Cardiol. 1979;43:1242-1244.
-
(1979)
Am J Cardiol
, vol.43
, pp. 1242-1244
-
-
Maron, B.J.1
Epstein, S.E.2
-
167
-
-
0020646360
-
Heterogeneous morphologic expression of genetically transmitted hypertrophic cardiomyopathy: Two dimensional echocardiographic analysis
-
Ciro E, Nichols PF, Maron BJ. Heterogeneous morphologic expression of genetically transmitted hypertrophic cardiomyopathy: two dimensional echocardiographic analysis. Circulation. 1983;67:1227-1233.
-
(1983)
Circulation
, vol.67
, pp. 1227-1233
-
-
Ciro, E.1
Nichols, P.F.2
Maron, B.J.3
-
168
-
-
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
-
169
-
-
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
-
170
-
-
0021922787
-
Apical hypertrophic cardiomyopathy: Evaluation by noninvasive techniques in 23 patients
-
Keren G, Belhassen B, Sherez J, Miller HI, Megidish R, Berenfeld D, Laniado S. Apical hypertrophic cardiomyopathy: evaluation by noninvasive techniques in 23 patients. Circulation. 1985;71:45-56.
-
(1985)
Circulation
, vol.71
, pp. 45-56
-
-
Keren, G.1
Belhassen, B.2
Sherez, J.3
Miller, H.I.4
Megidish, R.5
Berenfeld, D.6
Laniado, S.7
-
171
-
-
0024522726
-
Hypertrophic cardiomyopathy in the elderly: Distinctions from the young based on cardiac shape
-
Lever HM, Karam RF, Currie PJ, Healy BP. Hypertrophic cardiomyopathy in the elderly: distinctions from the young based on cardiac shape. Circulation. 1989;79:580-589.
-
(1989)
Circulation
, vol.79
, pp. 580-589
-
-
Lever, H.M.1
Karam, R.F.2
Currie, P.J.3
Healy, B.P.4
-
173
-
-
0021346026
-
Patterns of inheritance in hypertrophic cardiomyopathy: Assessment by M-mode and two dimensional echocardiography
-
Maron BJ, Nichols PF, Pickle LW, Wesley YE, Mulvihill JJ. Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two dimensional echocardiography. Am J Cardiol. 1984;53:1087-1094.
-
(1984)
Am J Cardiol
, vol.53
, pp. 1087-1094
-
-
Maron, B.J.1
Nichols, P.F.2
Pickle, L.W.3
Wesley, Y.E.4
Mulvihill, J.J.5
-
174
-
-
0028140230
-
Genotype-phenotype correlations in hypertrophic cardiomyopathy: Insights provided by comparisons of kindreds with distinct and identical β-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 β-myosin heavy chain gene mutations. Circulation. 1994;89:22-32.
-
(1994)
Circulation
, vol.89
, pp. 22-32
-
-
Fananapazir, L.1
Epstein, N.D.2
-
175
-
-
0023130164
-
Hypertrophic cardiomyopathy, I: Interrelations of clinical manifestations, pathophysiology, and therapy
-
Maron BJ, Bonow RO, Cannon RO III, Leon MB, Epstein SE. Hypertrophic cardiomyopathy, I: interrelations of clinical manifestations, pathophysiology, and therapy. N Engl J Med. 1987;316:780-789.
-
(1987)
N Engl J Med
, vol.316
, pp. 780-789
-
-
Maron, B.J.1
Bonow, R.O.2
Cannon III, R.O.3
Leon, M.B.4
Epstein, S.E.5
-
176
-
-
0021129260
-
Hypertrophic cardiomyopathy: An important cause of sudden death
-
McKenna WJ, Deanfield JE. Hypertrophic cardiomyopathy: an important cause of sudden death. Arch Dis Child. 1984;59:971-975.
-
(1984)
Arch Dis Child
, vol.59
, pp. 971-975
-
-
McKenna, W.J.1
Deanfield, J.E.2
-
178
-
-
0026319459
-
The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
-
Michels VV, Moll PP, Miller FA, Tajik AJ, Chu JS, Driscoll DJ, Burnett JC, Rodeheffer RJ, Chesebro JH, Tazelarr HD. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med. 1992;326:77-82.
-
(1992)
N Engl J Med
, vol.326
, pp. 77-82
-
-
Michels, V.V.1
Moll, P.P.2
Miller, F.A.3
Tajik, A.J.4
Chu, J.S.5
Driscoll, D.J.6
Burnett, J.C.7
Rodeheffer, R.J.8
Chesebro, J.H.9
Tazelarr, H.D.10
-
179
-
-
0028812128
-
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy
-
Muntoni F, Melis MA, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet. 1995;56:151-157.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 151-157
-
-
Muntoni, F.1
Melis, M.A.2
Ganau, A.3
Dubowitz, V.4
-
180
-
-
0027422079
-
Dystrophin analysis in idiopathic dilated cardiomyopathy
-
Michels VV, Pastores GM, Moll PP, Driscoll DJ, Miller FA, Burnett JC, Rodeheffer RJ, Tajik JA, Beggs AH, Kunkel LM, Thibodeau SN. Dystrophin analysis in idiopathic dilated cardiomyopathy. J Med Genet. 1993;30:955-957.
-
(1993)
J Med Genet
, vol.30
, pp. 955-957
-
-
Michels, V.V.1
Pastores, G.M.2
Moll, P.P.3
Driscoll, D.J.4
Miller, F.A.5
Burnett, J.C.6
Rodeheffer, R.J.7
Tajik, J.A.8
Beggs, A.H.9
Kunkel, L.M.10
Thibodeau, S.N.11
-
181
-
-
0028171138
-
Dilated cardiomyopathy and the dystrophin gene: An illustrated review
-
Oldfors A, Eriksson BO, Kyllerman M, Martinsson T, Wahlstrom J. Dilated cardiomyopathy and the dystrophin gene: an illustrated review. Br Heart J. 1994;72:344-348.
-
(1994)
Br Heart J
, vol.72
, pp. 344-348
-
-
Oldfors, A.1
Eriksson, B.O.2
Kyllerman, M.3
Martinsson, T.4
Wahlstrom, J.5
-
182
-
-
0026467734
-
Myocardial evidence of dystrophin mosaic in a Duchenne muscular dystrophy carrier
-
Letter
-
Schmidt-Achert M, Fischer P, Pongratz D. Myocardial evidence of dystrophin mosaic in a Duchenne muscular dystrophy carrier. Lancet. 1992;340:1235-1236. Letter.
-
(1992)
Lancet
, vol.340
, pp. 1235-1236
-
-
Schmidt-Achert, M.1
Fischer, P.2
Pongratz, D.3
-
183
-
-
10244229288
-
Endomyocardial biopsies in cardiomyopathies of children
-
Lurie PR. Endomyocardial biopsies in cardiomyopathies of children. Prog Pediatr Cardiol. 1992;1:71-81.
-
(1992)
Prog Pediatr Cardiol
, vol.1
, pp. 71-81
-
-
Lurie, P.R.1
-
184
-
-
0027392077
-
Efficacy of 100 consecutive right ventricular endomyocardial biopsies in pediatric patients using the right internal jugular venous approach
-
Shaddy RE, Bullock EA. Efficacy of 100 consecutive right ventricular endomyocardial biopsies in pediatric patients using the right internal jugular venous approach. Pediatr Cardiol. 1993;14:5-8.
-
(1993)
Pediatr Cardiol
, vol.14
, pp. 5-8
-
-
Shaddy, R.E.1
Bullock, E.A.2
-
185
-
-
0023717126
-
Value of endomyocardial biopsy in infants, children, and adolescents with dilated or hypertrophic cardiomyopathy and myocarditis
-
Leatherbury L, Chandra RS, Shapiro SR, Perry LW. Value of endomyocardial biopsy in infants, children, and adolescents with dilated or hypertrophic cardiomyopathy and myocarditis. J Am Coll Cardiol 1988;12:1547-1554.
-
(1988)
J Am Coll Cardiol
, vol.12
, pp. 1547-1554
-
-
Leatherbury, L.1
Chandra, R.S.2
Shapiro, S.R.3
Perry, L.W.4
-
186
-
-
0025173756
-
Safety and utility of endomyocardial biopsy in infants, children, and adolescents: A review of 66 procedures in 53 patients
-
Yoshizato T, Edwards WD, Alboliras ET, Hagler DJ, Driscoll DJ. Safety and utility of endomyocardial biopsy in infants, children, and adolescents: a review of 66 procedures in 53 patients. J Am Coll Cardiol. 1990;15:436-442.
-
(1990)
J Am Coll Cardiol
, vol.15
, pp. 436-442
-
-
Yoshizato, T.1
Edwards, W.D.2
Alboliras, E.T.3
Hagler, D.J.4
Driscoll, D.J.5
-
187
-
-
0027933823
-
Infantile dilated cardiomyopathy: Relation of outcome to left ventricular mechanics, hemodynamics, and histology at the time of presentation
-
Matitiau A, Perez-Atayde A, Sanders SP, Sluysman T, Parness IA, Spevak PJ, Colan SD. Infantile dilated cardiomyopathy: relation of outcome to left ventricular mechanics, hemodynamics, and histology at the time of presentation. Circulation. 1994;90:1310-1318.
-
(1994)
Circulation
, vol.90
, pp. 1310-1318
-
-
Matitiau, A.1
Perez-Atayde, A.2
Sanders, S.P.3
Sluysman, T.4
Parness, I.A.5
Spevak, P.J.6
Colan, S.D.7
-
188
-
-
0020080687
-
Myocardial disarray, a critical review
-
Becker AE, Caruso G. Myocardial disarray, a critical review. Br Heart J. 1982;47:527-538.
-
(1982)
Br Heart J
, vol.47
, pp. 527-538
-
-
Becker, A.E.1
Caruso, G.2
-
189
-
-
0017651972
-
Muscle fiber disarray in common heart diseases
-
van der Bel-Kahn J. Muscle fiber disarray in common heart diseases. Am J Cardiol. 1977;40:355-364.
-
(1977)
Am J Cardiol
, vol.40
, pp. 355-364
-
-
Van der Bel-Kahn, J.1
-
190
-
-
0017614146
-
Isometric cardiac contraction, a possible cause of the disorganized myocardial pattern of idiopathic subaortic stenosis
-
Bulkley BH, Weisfeldt ML, Hutchins GM. Isometric cardiac contraction, a possible cause of the disorganized myocardial pattern of idiopathic subaortic stenosis. N Engl J Med. 1977;296:135-139.
-
(1977)
N Engl J Med
, vol.296
, pp. 135-139
-
-
Bulkley, B.H.1
Weisfeldt, M.L.2
Hutchins, G.M.3
-
191
-
-
0024551414
-
Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation
-
Corr PB, Creer MH, Yamada KA, Saffitz JE, Sobel BE. Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation. J Clin Invest. 1989;83:927-936.
-
(1989)
J Clin Invest
, vol.83
, pp. 927-936
-
-
Corr, P.B.1
Creer, M.H.2
Yamada, K.A.3
Saffitz, J.E.4
Sobel, B.E.5
-
192
-
-
0027278673
-
Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency
-
Burlina AB, Milanesi O, Biban P, Bordugo A, Garavaglia B, Zacchello F, DiMauro S. Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency. Eur J Pediatr. 1993;152:537-541.
-
(1993)
Eur J Pediatr
, vol.152
, pp. 537-541
-
-
Burlina, A.B.1
Milanesi, O.2
Biban, P.3
Bordugo, A.4
Garavaglia, B.5
Zacchello, F.6
DiMauro, S.7
-
193
-
-
0023253686
-
Therapy of mitochondrial disorders
-
Prezyrembel H. Therapy of mitochondrial disorders. J Inherit Metab Dis. 1987;10:129-146.
-
(1987)
J Inherit Metab Dis
, vol.10
, pp. 129-146
-
-
Prezyrembel, H.1
-
194
-
-
0025117713
-
Neonatal hemodialysis: Effective therapy for the encephalopathy of inborn errors of metabolism
-
Rutledge SL, Havens PL, Haymond MW, McLean RH, Kan JS, Brusilow SW. Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism. J Pediatr. 1990; 116:125-128.
-
(1990)
J Pediatr
, vol.116
, pp. 125-128
-
-
Rutledge, S.L.1
Havens, P.L.2
Haymond, M.W.3
McLean, R.H.4
Kan, J.S.5
Brusilow, S.W.6
-
195
-
-
0023204260
-
Haemodialysis for metabolic decompensation in propionic acidemia
-
Roth B, Younossi-Hartenstein A, Skopnik H, Leonard JV, Lehnert W. Haemodialysis for metabolic decompensation in propionic acidemia. J Inherit Metab Dis. 1987;10:147-151.
-
(1987)
J Inherit Metab Dis
, vol.10
, pp. 147-151
-
-
Roth, B.1
Younossi-Hartenstein, A.2
Skopnik, H.3
Leonard, J.V.4
Lehnert, W.5
-
196
-
-
0027938012
-
Autopsies and the pediatric intensive care unit
-
Riggs D, Weibley RE. Autopsies and the pediatric intensive care unit. Pediatr Clin North Am. 1994;41:1383-1393.
-
(1994)
Pediatr Clin North Am
, vol.41
, pp. 1383-1393
-
-
Riggs, D.1
Weibley, R.E.2
-
197
-
-
0027752706
-
Advances in genetic diagnosis
-
Korf BR. Advances in genetic diagnosis. Curr Opin Pediatr. 1993;5:720-727.
-
(1993)
Curr Opin Pediatr
, vol.5
, pp. 720-727
-
-
Korf, B.R.1
-
198
-
-
0028267690
-
Molecular genetic approaches to the study of human cardiovascular disease
-
Dietz HC, Pyeritz RE. Molecular genetic approaches to the study of human cardiovascular disease. Annu Rev Physiol. 1994;56:763-796.
-
(1994)
Annu Rev Physiol
, vol.56
, pp. 763-796
-
-
Dietz, H.C.1
Pyeritz, R.E.2
-
199
-
-
0026023968
-
3-Hydroxydicarboxylic aciduria due to long-chain-3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: Protective effect of medium-chain triglyceride treatment
-
Duran M, Wanders RJA, de Jager JP, Dorland L, Bruinvis L, Ketting D, Ijlst L, van Sprang FS. 3-Hydroxydicarboxylic aciduria due to long-chain-3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment. Eur J Pediatr. 1991;150:190-195.
-
(1991)
Eur J Pediatr
, vol.150
, pp. 190-195
-
-
Duran, M.1
Wanders, R.J.A.2
De Jager, J.P.3
Dorland, L.4
Bruinvis, L.5
Ketting, D.6
Ijlst, L.7
Van Sprang, F.S.8
-
200
-
-
0019830914
-
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: A treatable cardiomyopathy
-
Tripp ME, Katcher ML, Peters HA, Gilbert EF, Arya S, Hodach RJ, Shug AL. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. N Engl J Med. 1981;305:385-390.
-
(1981)
N Engl J Med
, vol.305
, pp. 385-390
-
-
Tripp, M.E.1
Katcher, M.L.2
Peters, H.A.3
Gilbert, E.F.4
Arya, S.5
Hodach, R.J.6
Shug, A.L.7
-
201
-
-
0027938096
-
Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: Successful treatment with pantothenic acid
-
Ostman-Smith I, Brown G, Johnson A, Land JM. Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. Br Heart J. 1994;72:349-353.
-
(1994)
Br Heart J
, vol.72
, pp. 349-353
-
-
Ostman-Smith, I.1
Brown, G.2
Johnson, A.3
Land, J.M.4
-
202
-
-
0019466750
-
Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone marrow transplantation
-
Hobbs JR, Hugh-Jones K, Barrett AJ, Byron N, Chambers D, Henry K, James DC, Lucas CF, Rogers TR, Benson PF, Tansley LR, Patrick AD, Mossman J, Young EP. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone marrow transplantation. Lancet. 1981;2:709-712.
-
(1981)
Lancet
, vol.2
, pp. 709-712
-
-
Hobbs, J.R.1
Hugh-Jones, K.2
Barrett, A.J.3
Byron, N.4
Chambers, D.5
Henry, K.6
James, D.C.7
Lucas, C.F.8
Rogers, T.R.9
Benson, P.F.10
Tansley, L.R.11
Patrick, A.D.12
Mossman, J.13
Young, E.P.14
-
203
-
-
0021683336
-
Bone marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): Biochemical and clinical status 24 months after transplantation
-
Krivit W, Pierpont ME, Ayaz K, Tsai M, Ramsay NK, Kersey JH, Weisdorf S, Sibley R, Snover R, McGovern MM. Bone marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): biochemical and clinical status 24 months after transplantation. N Engl J Med. 1984;311:1606-1611.
-
(1984)
N Engl J Med
, vol.311
, pp. 1606-1611
-
-
Krivit, W.1
Pierpont, M.E.2
Ayaz, K.3
Tsai, M.4
Ramsay, N.K.5
Kersey, J.H.6
Weisdorf, S.7
Sibley, R.8
Snover, R.9
McGovern, M.M.10
-
204
-
-
0026511701
-
Hypertrophic cardiomyopathy in mucopolysaccharidoses: Regression after bone marrow transplantation
-
Vinallonga X, Sanz N, Balaguer A, Miro L, Ortega JJ, Casaldaliga J. Hypertrophic cardiomyopathy in mucopolysaccharidoses: regression after bone marrow transplantation. Pediatr Cardiol. 1992;13:107-109.
-
(1992)
Pediatr Cardiol
, vol.13
, pp. 107-109
-
-
Vinallonga, X.1
Sanz, N.2
Balaguer, A.3
Miro, L.4
Ortega, J.J.5
Casaldaliga, J.6
-
205
-
-
0029117050
-
Cardiac involvement in mucopolysaccharidoses: Effect of allogenic bone marrow transplantation
-
Gatzoulis MA, Vellodi A, Redington AN. Cardiac involvement in mucopolysaccharidoses: effect of allogenic bone marrow transplantation. Arch Dis Child. 1995;73:254-260.
-
(1995)
Arch Dis Child
, vol.73
, pp. 254-260
-
-
Gatzoulis, M.A.1
Vellodi, A.2
Redington, A.N.3
-
206
-
-
85047679319
-
Cardiomyopathy and abnormal mitochondrial function
-
Marin-Garcia J, Goldenthal MJ. Cardiomyopathy and abnormal mitochondrial function. Cardiovasc Res. 1994;28:456-463.
-
(1994)
Cardiovasc Res
, vol.28
, pp. 456-463
-
-
Marin-Garcia, J.1
Goldenthal, M.J.2
-
207
-
-
0028040626
-
Genetic disorders of mitochondrial fatty acid oxidation
-
Stanley CA, Hale DE. Genetic disorders of mitochondrial fatty acid oxidation. Curr Opin Pediatr. 1994;6:476-481.
-
(1994)
Curr Opin Pediatr
, vol.6
, pp. 476-481
-
-
Stanley, C.A.1
Hale, D.E.2
-
208
-
-
0026409603
-
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes
-
Rosenzweig A, Watkins H, Hwang DS, Miri M, McKenna W, Traill TA, Seidman JG, Seidman CE. Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. N Engl J Med. 1991;325:1753-1760.
-
(1991)
N Engl J Med
, vol.325
, pp. 1753-1760
-
-
Rosenzweig, A.1
Watkins, H.2
Hwang, D.S.3
Miri, M.4
McKenna, W.5
Traill, T.A.6
Seidman, J.G.7
Seidman, C.E.8
-
209
-
-
2342587338
-
Hypertrophic cardiomyopathy: How understanding molecular genetics helps explain clinical characteristics and guides management
-
Jarcho JA. Hypertrophic cardiomyopathy: how understanding molecular genetics helps explain clinical characteristics and guides management. Cardiol Rev. 1993;1:108-118.
-
(1993)
Cardiol Rev
, vol.1
, pp. 108-118
-
-
Jarcho, J.A.1
-
210
-
-
0029166817
-
Recent advances in the molecular genetics of hypertrophic cardiomyopathy
-
Marian AJ, Roberts R. Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation. 1995;92:1336-1347.
-
(1995)
Circulation
, vol.92
, pp. 1336-1347
-
-
Marian, A.J.1
Roberts, R.2
-
211
-
-
0028935226
-
Sudden cardiac death in hypertrophic cardiomyopathy: Variability in phenotypic expression of β-myosin heavy chain mutations
-
Marian AJ, Mares A Jr, Kelly DP, Yu QT, Abchee AB, Hill R, Roberts R. Sudden cardiac death in hypertrophic cardiomyopathy: variability in phenotypic expression of β-myosin heavy chain mutations. Eur Heart J. 1995;16:368-376.
-
(1995)
Eur Heart J
, vol.16
, pp. 368-376
-
-
Marian, A.J.1
Mares Jr., A.2
Kelly, D.P.3
Yu, Q.T.4
Abchee, A.B.5
Hill, R.6
Roberts, R.7
-
212
-
-
0028883249
-
Gene therapy for cardiovascular disease
-
Nabel RG. Gene therapy for cardiovascular disease. Circulation. 1995;91:541-548.
-
(1995)
Circulation
, vol.91
, pp. 541-548
-
-
Nabel, R.G.1
-
213
-
-
0028215227
-
Formation of nascent intercalated disks between grafted fetal cardiomyocytes and host myocardium
-
Soonpaa MH, Koh GY, Klug MG, Field LJ. Formation of nascent intercalated disks between grafted fetal cardiomyocytes and host myocardium. Science. 1994;264:98-101.
-
(1994)
Science
, vol.264
, pp. 98-101
-
-
Soonpaa, M.H.1
Koh, G.Y.2
Klug, M.G.3
Field, L.J.4
-
214
-
-
0027279257
-
Differentiation and long-term survival of C2C12 myoblast grafts in heart
-
Koh GY, Klug MG, Soonpas MH, Field LJ. Differentiation and long-term survival of C2C12 myoblast grafts in heart. J Clin Invest. 1993;92:1548-1554.
-
(1993)
J Clin Invest
, vol.92
, pp. 1548-1554
-
-
Koh, G.Y.1
Klug, M.G.2
Soonpas, M.H.3
Field, L.J.4
-
215
-
-
0028886936
-
Gene therapy: A novel form of drug delivery
-
Blau HM, Springer ML. Gene therapy: a novel form of drug delivery. N Engl J Med. 1995;333:1204-1207.
-
(1995)
N Engl J Med
, vol.333
, pp. 1204-1207
-
-
Blau, H.M.1
Springer, M.L.2
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