-
2
-
-
0035936792
-
The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
-
DOI 10.1016/S0092-8674(01)00242-2
-
Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104: 557-567. (Pubitemid 32201950)
-
(2001)
Cell
, vol.104
, Issue.4
, pp. 557-567
-
-
Seidman, J.G.1
Seidman, C.2
-
3
-
-
7544233539
-
Molecular basis of congenital and acquired long QT syndromes
-
DOI 10.1016/j.jelectrocard.2004.08.002, PII S0022073604000718
-
Ackerman MJ. Molecular basis of congenital and acquired long QT syndromes. J Electrocardiol. 2004;37(suppl):1-6. (Pubitemid 39452858)
-
(2004)
Journal of Electrocardiology
, vol.37
, Issue.SUPPL.
, pp. 1-6
-
-
Ackerman, M.J.1
-
4
-
-
79957486466
-
Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies
-
Meder B HJ, Keller A, Heid C, Just S, Borries A, Boisguerin V, Scharfenberger-Schmeer M, Stähler P, Beier M, Weichenhan D, Strom TM, Pfeufer A, Korn B, Katus HA, W R. Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genetics. 2011;4:110-122.
-
(2011)
Circ Cardiovasc Genetics
, vol.4
, pp. 110-122
-
-
Meder, B.H.J.1
Keller, A.2
Heid, C.3
Just, S.4
Borries, A.5
Boisguerin, V.6
Scharfenberger-Schmeer, M.7
Stähler, P.8
Beier, M.9
Weichenhan, D.10
Strom, T.M.11
Pfeufer, A.12
Korn, B.13
Katus, H.A.W.R.14
-
5
-
-
72849144434
-
Sequencing technologies-The next generation
-
Metzker ML. Sequencing technologies-the next generation. Nat Rev Genet. 2010;11:31-46.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 31-46
-
-
Metzker, M.L.1
-
6
-
-
0037630018
-
Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
-
DOI 10.1161/01.CIR.0000066323.15244.54
-
Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003;107: 2227-2232. (Pubitemid 36547217)
-
(2003)
Circulation
, vol.107
, Issue.17
, pp. 2227-2232
-
-
Richard, P.1
Charron, P.2
Carrier, L.3
Ledeuil, C.4
Cheav, T.5
Pichereau, C.6
Benaiche, A.7
Isnard, R.8
Dubourg, O.9
Burban, M.10
Gueffet, J.-P.11
Millaire, A.12
Desnos, M.13
Schwartz, K.14
Hainque, B.15
Komajda, M.16
-
7
-
-
75949086359
-
Multiple mutations in genetic cardiovascular disease: A marker of disease severity?
-
Kelly M, Semsarian C. Multiple mutations in genetic cardiovascular disease: a marker of disease severity? Circulation Cardiovasc Genetics. 2009;2:182-190.
-
(2009)
Circulation Cardiovasc Genetics
, vol.2
, pp. 182-190
-
-
Kelly, M.1
Semsarian, C.2
-
9
-
-
78049480714
-
The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy
-
Bagnall RD, Yeates L, Semsarian C. The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy. Int J Cardiol. 2010;145:150-153.
-
(2010)
Int J Cardiol
, vol.145
, pp. 150-153
-
-
Bagnall, R.D.1
Yeates, L.2
Semsarian, C.3
-
10
-
-
78649631986
-
Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals
-
Hershberger RE, Morales A, Siegfried JD. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med. 2010;12:655-667.
-
(2010)
Genet Med
, vol.12
, pp. 655-667
-
-
Hershberger, R.E.1
Morales, A.2
Siegfried, J.D.3
-
11
-
-
77649185345
-
Progress with genetic cardiomyopathies: Screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
Hershberger RE, Cowan J, Morales A, Siegfried JD. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail. 2009;2:253-261.
-
(2009)
Circ Heart Fail
, vol.2
, pp. 253-261
-
-
Hershberger, R.E.1
Cowan, J.2
Morales, A.3
Siegfried, J.D.4
-
12
-
-
33646757738
-
Compound and double mutations in patients with hypertrophic cardiomyopathy: Implications for genetic testing and counselling
-
Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005;42:e59.
-
(2005)
J Med Genet
, vol.42
-
-
Ingles, J.1
Doolan, A.2
Chiu, C.3
Seidman, J.4
Seidman, C.5
Semsarian, C.6
-
13
-
-
77954348119
-
Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy
-
Maron BJ, Semsarian C. Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy. Eur Heart J. 2010;31:1551-1553.
-
(2010)
Eur Heart J
, vol.31
, pp. 1551-1553
-
-
Maron, B.J.1
Semsarian, C.2
-
14
-
-
77949881591
-
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations
-
Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K, Torricelli F, Yeates L, Cecchi F, Ackerman MJ, Olivotto I. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol. 2010;55:1444-1453.
-
(2010)
J Am Coll Cardiol
, vol.55
, pp. 1444-1453
-
-
Girolami, F.1
Ho, C.Y.2
Semsarian, C.3
Baldi, M.4
Will, M.L.5
Baldini, K.6
Torricelli, F.7
Yeates, L.8
Cecchi, F.9
Ackerman, M.J.10
Olivotto, I.11
-
15
-
-
78650693367
-
Genetics and clinical destiny: Improving care in hypertrophic cardiomyopathy
-
Ho CY. Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy. Circulation. 2010;122:2430-2440.
-
(2010)
Circulation
, vol.122
, pp. 2430-2440
-
-
Ho, C.Y.1
-
16
-
-
79959690152
-
Clinical challenges of genotype positivephenotype negative family members in hypertrophic cardiomyopathy
-
December 22, Epub ahead of print
-
Maron BJ YL, Semsarian C. Clinical challenges of genotype positivephenotype negative family members in hypertrophic cardiomyopathy. Am J Cardiol. December 22, 2010. [Epub ahead of print].
-
(2010)
Am J Cardiol
-
-
Maron, B.J.Y.L.1
Semsarian, C.2
-
17
-
-
39449122818
-
Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy
-
DOI 10.1097/GIM.0b013e3181612cc7, PII 0012581720080200000007
-
Ingles J, Lind JM, Phongsavan P, Semsarian C. Psychosocial impact of specialized cardiac genetic clinics for hypertrophic cardiomyopathy. Genet Med. 2008;10:117-120. (Pubitemid 351271723)
-
(2008)
Genetics in Medicine
, vol.10
, Issue.2
, pp. 117-120
-
-
Ingles, J.1
Lind, J.M.2
Phongsavan, P.3
Semsarian, C.4
-
18
-
-
33845517423
-
Sudden cardiac death in the young: A clinical genetic approach
-
DOI 10.1111/j.1445-5994.2006.01241.x
-
Ingles J, Semsarian C. Sudden cardiac death in the young: a clinical genetic approach. Intern Med J. 2007;37:32-37. (Pubitemid 44924404)
-
(2007)
Internal Medicine Journal
, vol.37
, Issue.1
, pp. 32-37
-
-
Ingles, J.1
Semsarian, C.2
-
19
-
-
79551634466
-
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
-
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet. 2011;48:105-116.
-
(2011)
J Med Genet
, vol.48
, pp. 105-116
-
-
Otto, E.A.1
Ramaswami, G.2
Janssen, S.3
Chaki, M.4
Allen, S.J.5
Zhou, W.6
Airik, R.7
Hurd, T.W.8
Ghosh, A.K.9
Wolf, M.T.10
Hoppe, B.11
Neuhaus, T.J.12
Bockenhauer, D.13
Milford, D.V.14
Soliman, N.A.15
Antignac, C.16
Saunier, S.17
Johnson, C.A.18
Hildebrandt, F.19
-
20
-
-
77957925524
-
Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencing
-
Zaragoza MV, Fass J, Diegoli M, Lin D, Arbustini E. Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencing. PLoS One. 2010;5:e12295.
-
(2010)
PLoS One
, vol.5
-
-
Zaragoza, M.V.1
Fass, J.2
Diegoli, M.3
Lin, D.4
Arbustini, E.5
|