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1
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Genetics of dilated cardiomyopathy
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A comprehensive review of the known genetic mutations that have been shown to cause FDC
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Karkkainen S, Peuhkurinen K. Genetics of dilated cardiomyopathy. Ann Med 2007; 39:91-107. A comprehensive review of the known genetic mutations that have been shown to cause FDC.
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Karkkainen, S.1
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0019493987
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The natural history of idiopathic dilated cardiomyopathy
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Familial aggregation of idiopathic dilated cardiomyopathy
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Familial dilated cardiomyopathy: Cardiac abnormalities are common in asymptomatic relatives and may represent early disease
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Baig MK, Goldman JH, Caforio AP, et al. Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 1998; 31:195-201.
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Baig, M.K.1
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5
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Frequency and phenotypes of familial dilated cardiomyopathy
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Grunig E, Tasman JA, Kucherer H. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol 1998; 31:186-194.
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J Am Coll Cardiol
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Grunig, E.1
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6
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Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity
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Mestroni L, Rocco C, Gregori D, et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. J Am Coll Cardiol 1999; 34:181-190.
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Mestroni, L.1
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7
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0034820958
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Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease
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Jakobs PM, Hanson E, Crispell KA, et al. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. J Card Fail 2001; 7:249-256.
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J Card Fail
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Jakobs, P.M.1
Hanson, E.2
Crispell, K.A.3
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8
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Novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation
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Hershberger RE, Hanson E, Jakobs PM, et al. Novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation. Am Heart J 2002; 144:1081-1086.
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Hershberger, R.E.1
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Jakobs, P.M.3
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9
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38449123322
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DNA analysis in inherited cardiomyopathies: Current status and clinical relevance
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A review of the use of genetic testing in the evaluation, diagnosis, and treatment of patients with forms of inherited cardiomyopathy
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van Spaendonck-Zwarts KY, van den Berg MP, van Tintelen JP. DNA analysis in inherited cardiomyopathies: current status and clinical relevance. Pacing Clin Electrophysiol 2008; 31:S46-S49. A review of the use of genetic testing in the evaluation, diagnosis, and treatment of patients with forms of inherited cardiomyopathy.
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Van Spaendonck-Zwarts, K.Y.1
Van Den Berg, M.P.2
Van Tintelen, J.P.3
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10
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44849116735
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Extreme phenotypic diversity and nonpenetrance in families with LMNA gene mutation R644C
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A series of patients with the same missense mutation. This study highlights the variability in penetrance and phenotype for lamin A/C deficiency
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Rankin J, Auer-Grumbach M, Bagg W, et al. Extreme phenotypic diversity and nonpenetrance in families with LMNA gene mutation R644C. Am J Med Genet 2008; 146A:1530-1542. A series of patients with the same missense mutation. This study highlights the variability in penetrance and phenotype for lamin A/C deficiency.
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Am J Med Genet
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Rankin, J.1
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11
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Familial dilated cardiomyopathy
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Hershberger RE. Familial dilated cardiomyopathy. Prog Ped Cardiol 2005; 20:161-168.
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Prog Ped Cardiol
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Hershberger, R.E.1
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12
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Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy
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Crispell KA, Hanson EL, Coates K, et al. Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy. J Am Coll Cardiol 2002; 39:1503-1507.
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Crispell, K.A.1
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Coates, K.3
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13
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15944403997
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Clinical and genetic issues in familial dilated cardiomyopathy
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Burkett EL, Hershberger RE. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2005; 45:969-981.
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J Am Coll Cardiol
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Burkett, E.L.1
Hershberger, R.E.2
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14
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19944431159
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Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: Do lamin A/C mutations portend a high risk of sudden death?
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van Berlo JH, deVoogt WG, van der Kooi AJ, et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med 2005; 83:79-83.
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Van Berlo, J.H.1
Devoogt, W.G.2
Van Der Kooi, A.J.3
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15
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30444446953
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Primary prevention of sudden death in patients with lamin A/C gene mutations
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Meune C, van Berlo J, Anselme F, et al. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006; 354:209-210.
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N Engl J Med
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Meune, C.1
Van Berlo, J.2
Anselme, F.3
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16
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0037420074
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Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
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Taylor MR, Fain PR, Sinagra G, et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 2003; 41:771-780.
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J Am Coll Cardiol
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Taylor, M.R.1
Fain, P.R.2
Sinagra, G.3
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17
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23744486205
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In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients
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Sylvius N, Bilinska ZT, Veinot JP, et al. In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. J Med Genet 2005; 42:639-647.
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Sylvius, N.1
Bilinska, Z.T.2
Veinot, J.P.3
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18
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18344380431
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Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A/C defect-related disease
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Arbustini E, Pilotto A, Repetto A, et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 2002; 39:981-990.
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J Am Coll Cardiol
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Arbustini, E.1
Pilotto, A.2
Repetto, A.3
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19
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0033518282
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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conductionsystem disease
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Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conductionsystem disease. N Engl J Med 1999; 341:1715-1724.
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N Engl J Med
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Fatkin, D.1
MacRae, C.2
Sasaki, T.3
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20
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0041569861
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The nuclear lamina and its functions in the nucleus
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Gruenbaum Y, Goldman RD, Meyuhas R, et al. The nuclear lamina and its functions in the nucleus. Int Rev Cytol 2006; 226:1-62.
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Int Rev Cytol
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Gruenbaum, Y.1
Goldman, R.D.2
Meyuhas, R.3
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21
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0037684765
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The nucleoskeleton: Lamins and actin are major players in essential nuclear functions
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Shumaker DK, Kuczmarski ER, Goldman RD. The nucleoskeleton: lamins and actin are major players in essential nuclear functions. Curr Opin Cell Biol 2003; 15:358-366.
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Curr Opin Cell Biol
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Shumaker, D.K.1
Kuczmarski, E.R.2
Goldman, R.D.3
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22
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47349128641
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Specific contribution of lamin a and lamin C in the development of laminopathies
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In-vitro study evaluating the effects of lamin A and C overexpression in COS7 cells. The results suggested that different mutations in lamin A and C may cause differential effects on cellular function
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Sylvius N, Hathaway A, Boudreau E, et al. Specific contribution of lamin A and lamin C in the development of laminopathies. Exp Cell Res 2008; 314:2362-2375. In-vitro study evaluating the effects of lamin A and C overexpression in COS7 cells. The results suggested that different mutations in lamin A and C may cause differential effects on cellular function.
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Exp Cell Res
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Sylvius, N.1
Hathaway, A.2
Boudreau, E.3
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23
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33748175926
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Lamin A/C and cardiac diseases
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Sylvius N, Tesson F. Lamin A/C and cardiac diseases. Curr Opin Cardiol 2006; 21:159-165.
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(2006)
Curr Opin Cardiol
, vol.21
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Sylvius, N.1
Tesson, F.2
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24
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36148933389
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High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics
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A series of patients with FDC who were screened for lamin A/C deficiency. This study found several different mutations that resulted in different clinical courses
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van Tintelen JP, Hofstra RMW, Katerberg H, et al. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J 2007; 154:1130-1139. A series of patients with FDC who were screened for lamin A/C deficiency. This study found several different mutations that resulted in different clinical courses.
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(2007)
Am Heart J
, vol.154
, pp. 1130-1139
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Van Tintelen, J.P.1
Hofstra, R.M.W.2
Katerberg, H.3
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25
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39149083716
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Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease
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This mouse model study demonstrated a possible mechanism for the clinical presentation of lamin A/C deficiency. Lamin A/C-deficient myocytes demonstrated apoptosis, particularly in conducting cells
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Wolf CM, Wang L, Alcalai R, et al. Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease. J Mol Cell Cardiol 2008; 44:293-303. This mouse model study demonstrated a possible mechanism for the clinical presentation of lamin A/C deficiency. Lamin A/C-deficient myocytes demonstrated apoptosis, particularly in conducting cells.
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(2008)
J Mol Cell Cardiol
, vol.44
, pp. 293-303
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Wolf, C.M.1
Wang, L.2
Alcalai, R.3
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26
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0033636387
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High incidence of sudden death with conduction system and myocardial disease due to lamins a and C gene mutation
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Becane HM, Bonne G, Varnous S, et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 2000; 23:1661-1666.
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Pacing Clin Electrophysiol
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Becane, H.M.1
Bonne, G.2
Varnous, S.3
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27
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34250732284
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Severe myocardial fibrosis caused by a deletion of the 5′ end of the lamin A/C gene
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A family study demonstrating the malignant course that many patients with lamin A/C deficiency experience. The patients were at high risk forCHFand sudden death
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van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, et al. Severe myocardial fibrosis caused by a deletion of the 5′ end of the lamin A/C gene. J Am Coll Cardiol 2007; 49:2430-2439. A family study demonstrating the malignant course that many patients with lamin A/C deficiency experience. The patients were at high risk forCHFand sudden death.
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(2007)
J Am Coll Cardiol
, vol.49
, pp. 2430-2439
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Van Tintelen, J.P.1
Tio, R.A.2
Kerstjens-Frederikse, W.S.3
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28
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67651124235
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Expanding the phenotype of sudden cardiac death - An unusual presentation of a family with a lamin A/C mutation
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[Epub ahead of print] A family study that demonstrated that the risk of SCD preceded the development of left ventricular dysfunction
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de Backer J, van Beeumen K, Loeys B, Duytschaever M. Expanding the phenotype of sudden cardiac death - an unusual presentation of a family with a lamin A/C mutation. Int J Cardiol 2008. [Epub ahead of print] A family study that demonstrated that the risk of SCD preceded the development of left ventricular dysfunction.
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(2008)
Int J Cardiol
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De Backer, J.1
Van Beeumen, K.2
Loeys, B.3
Duytschaever, M.4
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29
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52949111684
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Long-term outcome and risk stratification in dilated cardiolaminopathies
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A large series of 164 patients in 27 families with lamin A/C deficiency. These patients had a malignant course. The authors were able to identify several markers for risk of sudden death, including CHF, which is in contrast to previous studies. Athleticism was also a risk factor for sudden death
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Pasotti M, Klersy C, Pilotto A, et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol 2008; 52:1250-1260. A large series of 164 patients in 27 families with lamin A/C deficiency. These patients had a malignant course. The authors were able to identify several markers for risk of sudden death, including CHF, which is in contrast to previous studies. Athleticism was also a risk factor for sudden death.
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(2008)
J Am Coll Cardiol
, vol.52
, pp. 1250-1260
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Pasotti, M.1
Klersy, C.2
Pilotto, A.3
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30
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45649083874
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Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
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A large series of patients who were found to have lamin A/C deficiency. Multiple different mutations were found with multiple different phenotypes. Not all affected family members were found to have the mutation, suggesting that not all lamin A/C defects cause disease
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Parks SB, Kushner JD, Nauman D, et al. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J 2008; 156:161-169. A large series of patients who were found to have lamin A/C deficiency. Multiple different mutations were found with multiple different phenotypes. Not all affected family members were found to have the mutation, suggesting that not all lamin A/C defects cause disease.
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(2008)
Am Heart J
, vol.156
, pp. 161-169
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Parks, S.B.1
Kushner, J.D.2
Nauman, D.3
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31
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57949113000
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Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy
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A series of patients with FDC who were found to have lamin A/C deficiency. Two novel mutations were found and mutational hot spots were identified
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Perrot A, Hussein S, Ruppert V, et al. Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. Basic Res Cardiol 2009; 104:90-99. A series of patients with FDC who were found to have lamin A/C deficiency. Two novel mutations were found and mutational hot spots were identified.
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(2009)
Basic Res Cardiol
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, pp. 90-99
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Perrot, A.1
Hussein, S.2
Ruppert, V.3
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32
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47149097881
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Laminopathies in Russian families
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A series of patients with lamin A/C deficiency who were genetically screened. Several novel mutations were discovered and mutational hot spots were identified
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Rudenskaya GE, Polyakov AV, Tverskaya SM, et al. Laminopathies in Russian families. Clin Genet 2008; 74:127-133. A series of patients with lamin A/C deficiency who were genetically screened. Several novel mutations were discovered and mutational hot spots were identified.
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(2008)
Clin Genet
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, pp. 127-133
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Rudenskaya, G.E.1
Polyakov, A.V.2
Tverskaya, S.M.3
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33
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0032852339
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Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: Preliminary recommendations for clinical practice
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Crispell K, Wray A, Ni H, et al. Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice. J Am Coll Cardiol 1999; 34:837-847.
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J Am Coll Cardiol
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Crispell, K.1
Wray, A.2
Ni, H.3
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34
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0026319459
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The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
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Michels VV, Moll PP, Miller FA, et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 1992; 326:77-82.
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Michels, V.V.1
Moll, P.P.2
Miller, F.A.3
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35
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53749099232
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Early familial dilated cardiomyopathy: Identification with determination of disease state parameter from cine MR image data
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MRI was used to screen for preclinical findings in a series of patients with lamin A/C mutations who did not have clinical disease
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Koikkalainen JR, Antila M, Lotjonen JMP, et al. Early familial dilated cardiomyopathy: identification with determination of disease state parameter from cine MR image data. Radiology 2008; 249:88-96. MRI was used to screen for preclinical findings in a series of patients with lamin A/C mutations who did not have clinical disease.
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Radiology
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Koikkalainen, J.R.1
Antila, M.2
Lotjonen, J.M.P.3
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36
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54049149859
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Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy
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MRI was used to evaluate alterations in blood flow in a series of patients with IDC or FDC
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Jerosch-Herold M, Sheridan DC, Kushner JD, et al. Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathy. Am J Physiol Heart Circ Physiol 2008; 295:H1234-H1242. MRI was used to evaluate alterations in blood flow in a series of patients with IDC or FDC.
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Am J Physiol Heart Circ Physiol
, vol.295
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Jerosch-Herold, M.1
Sheridan, D.C.2
Kushner, J.D.3
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37
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42649117467
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Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation
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Carboni N, Mura M, Marrosu G, et al. Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation. Neuromuscul Disord 2008; 18:291-298.
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Neuromuscul Disord
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Carboni, N.1
Mura, M.2
Marrosu, G.3
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