-
1
-
-
34248230348
-
Cardiomyopathy, familial dilated
-
Taylor MR, Carniel E, and Mestroni L. Cardiomyopathy, familial dilated. Orphanet J Rare Dis. 1: 27, 2006.
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 27
-
-
Taylor, M.R.1
Carniel, E.2
Mestroni, L.3
-
2
-
-
79953842000
-
Update 2011: Clinical and genetic issues in familial dilated cardiomyopathy
-
Hershberger RE, and Siegfried JD. Update. 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol. 57: 1641-1649, 2011.
-
(2011)
J Am Coll Cardiol
, vol.57
, pp. 1641-1649
-
-
Hershberger, R.E.1
Siegfried, J.D.2
-
3
-
-
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, and Tazelaar HD. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med. 326: 77-82, 1992.
-
(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
Tazelaar, H.D.10
-
4
-
-
84883163817
-
Dilated cardiomyopathy: The complexity of a diverse genetic architecture
-
Hershberger RE, Hedges DJ, and Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 10: 531-547, 2013.
-
(2013)
Nat Rev Cardiol
, vol.10
, pp. 531-547
-
-
Hershberger, R.E.1
Hedges, D.J.2
Morales, A.3
-
5
-
-
84893845784
-
A novel gata4 loss-of-function mutation responsible for familial dilated cardiomyopathy
-
Zhao L, Xu JH, Xu WJ, Yu H, Wang Q, Zheng HZ, Jiang WF, Jiang JF, and Yang YQ. A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. Int J Mol Med. 33: 654-660, 2014.
-
(2014)
Int J Mol Med
, vol.33
, pp. 654-660
-
-
Zhao, L.1
Xu, J.H.2
Xu, W.J.3
Yu, H.4
Wang, Q.5
Zheng, H.Z.6
Jiang, W.F.7
Jiang, J.F.8
Yang, Y.Q.9
-
6
-
-
84930334111
-
A novel tbx5 loss-of-function mutation associated with sporadic dilated cardiomyopathy
-
Zhou W, Zhao L, Jiang JQ, Jiang WF, Yang YQ, and Qiu XB. A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy. Int J Mol Med. 36: 282-288, 2015.
-
(2015)
Int J Mol Med
, vol.36
, pp. 282-288
-
-
Zhou, W.1
Zhao, L.2
Jiang, J.Q.3
Jiang, W.F.4
Yang, Y.Q.5
Qiu, X.B.6
-
7
-
-
84907226738
-
Gata6 loss-of-function mutations contribute to familial dilated cardiomyopathy
-
Xu L, Zhao L, Yuan F, Jiang WF, Liu H, Li RG, Xu YJ, Zhang M, Fang WY, Qu XK, et al. GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy. Int J Mol Med. 34: 1315-1322, 2014.
-
(2014)
Int J Mol Med
, vol.34
, pp. 1315-1322
-
-
Xu, L.1
Zhao, L.2
Yuan, F.3
Jiang, W.F.4
Liu, H.5
Li, R.G.6
Xu, Y.J.7
Zhang, M.8
Fang, W.Y.9
Qu, X.K.10
-
8
-
-
84921769541
-
Gata5 loss-of-function mutation in familial dilated cardiomyopathy
-
Zhang XL, Dai N, Tang K, Chen YQ, Chen W, Wang J, Zhao CM, Yuan F, Qiu XB, Qu XK, et al. GATA5 loss-of-function mutation in familial dilated cardiomyopathy. Int J Mol Med. 35: 763-770, 2015.
-
(2015)
Int J Mol Med
, vol.35
, pp. 763-770
-
-
Zhang, X.L.1
Dai, N.2
Tang, K.3
Chen, Y.Q.4
Chen, W.5
Wang, J.6
Zhao, C.M.7
Yuan, F.8
Qiu, X.B.9
Qu, X.K.10
-
9
-
-
84919607851
-
A novel nkx2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias
-
Yuan F, Qiu XB, Li RG, Qu XK, Wang J, Xu YJ, Liu X, Fang WY, Yang YQ, and Liao DN. A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias. Int J Mol Med. 35: 478-486, 2015.
-
(2015)
Int J Mol Med
, vol.35
, pp. 478-486
-
-
Yuan, F.1
Qiu, X.B.2
Li, R.G.3
Qu, X.K.4
Wang, J.5
Xu, Y.J.6
Liu, X.7
Fang, W.Y.8
Yang, Y.Q.9
Liao, D.N.10
-
10
-
-
78649631986
-
Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals
-
Hershberger RE, Morales A, and Siegfried JD. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med. 12: 655-667, 2010.
-
(2010)
Genet Med
, vol.12
, pp. 655-667
-
-
Hershberger, R.E.1
Morales, A.2
Siegfried, J.D.3
-
11
-
-
0842283230
-
Novel mutation in cardiac troponin i in recessive idiopathic dilated cardiomyopathy
-
Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, and McKenna WJ. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet. 363: 371-372, 2004.
-
(2004)
Lancet
, vol.363
, pp. 371-372
-
-
Murphy, R.T.1
Mogensen, J.2
Shaw, A.3
Kubo, T.4
Hughes, S.5
McKenna, W.J.6
-
12
-
-
84908356896
-
Perturbation of ncoa6 leads to dilated cardiomyopathy
-
Roh JI, Cheong C, Sung YH, Lee J, Oh J, Lee BS, Lee JE, Gho YS, Kim DK, Park CB, et al. Perturbation of NCOA6 leads to dilated cardiomyopathy. Cell Rep. 8: 991-998, 2014.
-
(2014)
Cell Rep
, vol.8
, pp. 991-998
-
-
Roh, J.I.1
Cheong, C.2
Sung, Y.H.3
Lee, J.4
Oh, J.5
Lee, B.S.6
Lee, J.E.7
Gho, Y.S.8
Kim, D.K.9
Park, C.B.10
-
13
-
-
84877120859
-
Ngs identifies taz mutation in a family with x-linked dilated cardiomyopathy
-
Man E, Lafferty KA, Funke BH, Lun KS, Chan SY, Chau AK, and Chung BH. NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy. BMJ Case Rep. 2013: pii: bcr2012007529, 2013.
-
(2013)
BMJ Case Rep
, vol.2013
-
-
Man, E.1
Lafferty, K.A.2
Funke, B.H.3
Lun, K.S.4
Chan, S.Y.5
Chau, A.K.6
Chung, B.H.7
-
14
-
-
78649373427
-
Genetic counselling and testing in cardio-myopathies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
-
European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
-
Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, et al; European Society of Cardiology Working Group on Myocardial and Pericardial Diseases: Genetic counselling and testing in cardio-myopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 31 2715-2726 2010.
-
(2010)
Eur Heart J
, vol.31
, pp. 2715-2726
-
-
Charron, P.1
Arad, M.2
Arbustini, E.3
Basso, C.4
Bilinska, Z.5
Elliott, P.6
Helio, T.7
Keren, A.8
McKenna, W.J.9
Monserrat, L.10
-
15
-
-
84884589395
-
Clinical utility gene card for: Dilated cardiomyopathy (cmd
-
Posafalvi A, Herkert JC, Sinke RJ, van den Berg MP, Mogensen J, Jongbloed JD, and van Tintelen JP. Clinical utility gene card for: dilated cardiomyopathy (CMD). Eur J Hum Genet. 21: 21, 2013.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 21
-
-
Posafalvi, A.1
Herkert, J.C.2
Sinke, R.J.3
Van Den Berg, M.P.4
Mogensen, J.5
Jongbloed, J.D.6
Van Tintelen, J.P.7
-
16
-
-
52949096084
-
Next-generation DNA sequencing methods
-
Mardis ER. Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet. 9: 387-402, 2008.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 387-402
-
-
Mardis, E.R.1
-
17
-
-
37749031255
-
Next-generation sequencing transforms today's biology
-
Schuster SC. Next-generation sequencing transforms today's biology. Nat Methods. 5: 16-18, 2008.
-
(2008)
Nat Methods
, vol.5
, pp. 16-18
-
-
Schuster, S.C.1
-
18
-
-
79955474373
-
Genetic diagnosis in pediatric cardiomyopathy: Clinical application and research perspectives
-
Ware SM. Genetic diagnosis in pediatric cardiomyopathy: clinical application and research perspectives. Prog Pediatr Cardiol. 31: 99-102, 2011.
-
(2011)
Prog Pediatr Cardiol
, vol.31
, pp. 99-102
-
-
Ware, S.M.1
-
19
-
-
84905046604
-
Next generation sequencing in cardiomyopathy: Towards personalized genomics and medicine
-
Biswas A, Rao VR, Seth S, and Maulik SK. Next generation sequencing in cardiomyopathy: towards personalized genomics and medicine. Mol Biol Rep. 41: 4881-4888, 2014.
-
(2014)
Mol Biol Rep
, vol.41
, pp. 4881-4888
-
-
Biswas, A.1
Rao, V.R.2
Seth, S.3
Maulik, S.K.4
-
20
-
-
84884516867
-
Short read (next-generation) sequencing: A tutorial with cardiomyopathy diagnostics as an exemplar
-
Punetha J, and Hoffman EP. Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar. Circ Cardiovasc Genet. 6: 427-434, 2013.
-
(2013)
Circ Cardiovasc Genet
, vol.6
, pp. 427-434
-
-
Punetha, J.1
Hoffman, E.P.2
-
21
-
-
0032934453
-
Guidelines for the study of familial dilated cardiomyopathies
-
Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy
-
Mestroni L, Maisch B, McKenna WJ, Schwartz K, Charron P, Rocco C, Tesson F, Richter A, Wilke A, and Komajda M. Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. Eur Heart J. 20: 93-102, 1999.
-
(1999)
Eur Heart J
, vol.20
, pp. 93-102
-
-
Mestroni, L.1
Maisch, B.2
McKenna, W.J.3
Schwartz, K.4
Charron, P.5
Rocco, C.6
Tesson, F.7
Richter, A.8
Wilke, A.9
Komajda, M.10
-
22
-
-
77949587649
-
Fast and accurate long-read alignment with burrows-wheeler transform
-
Li H, and Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 26: 589-595, 2010.
-
(2010)
Bioinformatics
, vol.26
, pp. 589-595
-
-
Li, H.1
Durbin, R.2
-
23
-
-
68549104404
-
1000 Genome Project Data Processing Subgroup: The Sequence Alignment/Map format and samtools
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, and Durbin R; 1000 Genome Project Data Processing Subgroup: The Sequence Alignment/Map format and SAMtools. Bioinformatics 25 2078-2079 2009.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
24
-
-
84863229597
-
Varscan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
-
Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, Miller CA, Mardis ER, Ding L, and Wilson RK. VarScan. 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res. 22: 568-576, 2012.
-
(2012)
Genome Res
, vol.22
, pp. 568-576
-
-
Koboldt, D.C.1
Zhang, Q.2
Larson, D.E.3
Shen, D.4
McLellan, M.D.5
Lin, L.6
Miller, C.A.7
Mardis, E.R.8
Ding, L.9
Wilson, R.K.10
-
25
-
-
77956534324
-
Annovar: Functional anno-Tation of genetic variants from high-Throughput sequencing data
-
Wang K, Li M, and Hakonarson H. ANNOVAR: functional anno-Tation of genetic variants from high-Throughput sequencing data. Nucleic Acids Res. 38: e164, 2010.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
26
-
-
79952715853
-
Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelo-pathies in clinical practice
-
Tester DJ, and Ackerman MJ. Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelo-pathies in clinical practice. Circulation. 123: 1021-1037, 2011.
-
(2011)
Circulation
, vol.123
, pp. 1021-1037
-
-
Tester, D.J.1
Ackerman, M.J.2
-
27
-
-
84856194916
-
Prevention of sudden death for patients with cardiomyopathies another step forward
-
Maron BJ, and Semsarian C. Prevention of sudden death for patients with cardiomyopathies another step forward. J Am Coll Cardiol. 59: 501-502, 2012.
-
(2012)
J Am Coll Cardiol
, vol.59
, pp. 501-502
-
-
Maron, B.J.1
Semsarian, C.2
-
28
-
-
34548118345
-
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy
-
Chiu C, Tebo M, Ingles J, Yeates L, Arthur JW, Lind JM, and Semsarian C. Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. J Mol Cell Cardiol. 43: 337-343, 2007.
-
(2007)
J Mol Cell Cardiol
, vol.43
, pp. 337-343
-
-
Chiu, C.1
Tebo, M.2
Ingles, J.3
Yeates, L.4
Arthur, J.W.5
Lind, J.M.6
Semsarian, C.7
-
29
-
-
42149139456
-
ACMG recommen-dations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee
-
Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, and Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee: ACMG recommen-dations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 10 294-300 2008.
-
(2008)
Genet Med
, vol.10
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
Das, S.4
Grody, W.W.5
Hegde, M.R.6
Lyon, E.7
Ward, B.E.8
-
30
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the sift algorithm
-
Kumar P, Henikoff S, and Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 4: 1073-1081, 2009.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
31
-
-
77955151784
-
Mutationtaster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rödelsperger C, Schuelke M, and Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 7: 575-576, 2010.
-
(2010)
Nat Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rödelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
32
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, and Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods. 7: 248-249, 2010.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
33
-
-
41149088666
-
Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein c in Chinese patients with hypertrophic cardiomyopathy
-
Wang S, Zou Y, Fu C, Xu X, Wang J, Song L, Wang H, Chen J, Wang J, Huan T, and Hui R. Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy. Clin Cardiol. 31: 114-118, 2008.
-
(2008)
Clin Cardiol
, vol.31
, pp. 114-118
-
-
Wang, S.1
Zou, Y.2
Fu, C.3
Xu, X.4
Wang, J.5
Song, L.6
Wang, H.7
Chen, J.8
Wang, J.9
Huan, T.10
Hui, R.11
-
34
-
-
37349042936
-
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-Tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments
-
Robinson P, Griffiths PJ, Watkins H, and Redwood CS. Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-Tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. Circ Res. 101: 1266-1273, 2007.
-
(2007)
Circ Res
, vol.101
, pp. 1266-1273
-
-
Robinson, P.1
Griffiths, P.J.2
Watkins, H.3
Redwood, C.S.4
-
35
-
-
23344452467
-
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype
-
Mirza M, Marston S, Willott R, Ashley C, Mogensen J, McKenna W, Robinson P, Redwood C, and Watkins H. Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. J Biol Chem. 280: 28498-28506, 2005.
-
(2005)
J Biol Chem
, vol.280
, pp. 28498-28506
-
-
Mirza, M.1
Marston, S.2
Willott, R.3
Ashley, C.4
Mogensen, J.5
McKenna, W.6
Robinson, P.7
Redwood, C.8
Watkins, H.9
-
36
-
-
70349628869
-
The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
-
Mller DV, Andersen PS, Hedley P, Ersbll MK, Bundgaard H, Moolman-Smook J, Christiansen M, and Kber L. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet. 17: 1241-1249, 2009.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1241-1249
-
-
Mller, D.V.1
Andersen, P.S.2
Hedley, P.3
Ersbll, M.K.4
Bundgaard, H.5
Moolman-Smook, J.6
Christiansen, M.7
Kber, L.8
-
37
-
-
77953023261
-
Coding sequence rare variants identified in mybpc3, myh6, tpm1, tnnc1, and tnni3 from 312 patients with familial or idiopathic dilated cardiomyopathy
-
Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, and Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 3: 155-161, 2010.
-
(2010)
Circ Cardiovasc Genet
, vol.3
, pp. 155-161
-
-
Hershberger, R.E.1
Norton, N.2
Morales, A.3
Li, D.4
Siegfried, J.D.5
Gonzalez-Quintana, J.6
-
38
-
-
55149117580
-
Coding sequence mutations identified in myh7, tnnt2, scn5a, csrp3, lbd3, and tcap from 313 patients with familial or idiopathic dilated cardiomyopathy
-
Hershberger RE, Parks SB, Kushner JD, Li D, Ludwigsen S, Jakobs P, Nauman D, Burgess D, Partain J, and Litt M. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 1: 21-26, 2008.
-
(2008)
Clin Transl Sci
, vol.1
, pp. 21-26
-
-
Hershberger, R.E.1
Parks, S.B.2
Kushner, J.D.3
Li, D.4
Ludwigsen, S.5
Jakobs, P.6
Nauman, D.7
Burgess, D.8
Partain, J.9
Litt, M.10
-
39
-
-
84859218872
-
Genetic testing for dilated cardiomyopathy in clinical practice
-
Lakdawala NK, Funke BH, Baxter S, Cirino AL, Roberts AE, Judge DP, Johnson N, Mendelsohn NJ, Morel C, Care M, et al. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 18: 296-303, 2012.
-
(2012)
J Card Fail
, vol.18
, pp. 296-303
-
-
Lakdawala, N.K.1
Funke, B.H.2
Baxter, S.3
Cirino, A.L.4
Roberts, A.E.5
Judge, D.P.6
Johnson, N.7
Mendelsohn, N.J.8
Morel, C.9
Care, M.10
-
40
-
-
84881128467
-
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy
-
Liu W, Liu W, Hu D, Zhu T, Ma Z, Yang J, Xie W, Li C, Li L, Yang J, et al. Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. Am J Cardiol. 112: 585-589, 2013.
-
(2013)
Am J Cardiol
, vol.112
, pp. 585-589
-
-
Liu, W.1
Liu, W.2
Hu, D.3
Zhu, T.4
Ma, Z.5
Yang, J.6
Xie, W.7
Li, C.8
Li, L.9
Yang, J.10
-
41
-
-
34249664521
-
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy
-
Matsushita Y, Furukawa T, Kasanuki H, Nishibatake M, Kurihara Y, Ikeda A, Kamatani N, Takeshima H, and Matsuoka R. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. J Hum Genet. 52: 543-548, 2007.
-
(2007)
J Hum Genet
, vol.52
, pp. 543-548
-
-
Matsushita, Y.1
Furukawa, T.2
Kasanuki, H.3
Nishibatake, M.4
Kurihara, Y.5
Ikeda, A.6
Kamatani, N.7
Takeshima, H.8
Matsuoka, R.9
-
42
-
-
84877734976
-
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy
-
Zou Y, Wang J, Liu X, Wang Y, Chen Y, Sun K, Gao S, Zhang C, Wang Z, Zhang Y, et al. Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. Mol Biol Rep. 40: 3969-3976, 2013.
-
(2013)
Mol Biol Rep
, vol.40
, pp. 3969-3976
-
-
Zou, Y.1
Wang, J.2
Liu, X.3
Wang, Y.4
Chen, Y.5
Sun, K.6
Gao, S.7
Zhang, C.8
Wang, Z.9
Zhang, Y.10
-
43
-
-
70249098047
-
A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy
-
Wang J, Xu SJ, Zhou H, Wang LJ, Hu B, Fang F, Zhang XM, Luo YW, He XY, Zhuang SW, et al. A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. Clin Cardiol. 32: E16-E21, 2009.
-
(2009)
Clin Cardiol
, vol.32
, pp. E16-E21
-
-
Wang, J.1
Xu, S.J.2
Zhou, H.3
Wang, L.J.4
Hu, B.5
Fang, F.6
Zhang, X.M.7
Luo, Y.W.8
He, X.Y.9
Zhuang, S.W.10
-
44
-
-
21844463045
-
Alpha-myosin heavy chain: A sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy
-
Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, et al. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation. 112: 54-59, 2005.
-
(2005)
Circulation
, vol.112
, pp. 54-59
-
-
Carniel, E.1
Taylor, M.R.2
Sinagra, G.3
Di Lenarda, A.4
Ku, L.5
Fain, P.R.6
Boucek, M.M.7
Cavanaugh, J.8
Miocic, S.9
Slavov, D.10
-
45
-
-
67649631522
-
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
-
Herman DS, Hovingh GK, Iartchouk O, Rehm HL, Kucherlapati R, Seidman JG, and Seidman CE. Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods. 6: 507-510, 2009.
-
(2009)
Nat Methods
, vol.6
, pp. 507-510
-
-
Herman, D.S.1
Hovingh, G.K.2
Iartchouk, O.3
Rehm, H.L.4
Kucherlapati, R.5
Seidman, J.G.6
Seidman, C.E.7
-
46
-
-
84879420805
-
Targeted next-generation sequencing can replace sanger sequencing in clinical diagnostics
-
Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts KY, van Tintelen JP, Sijmons RH, Jongbloed JD, and Sinke RJ. Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat. 34: 1035-1042, 2013.
-
(2013)
Hum Mutat
, vol.34
, pp. 1035-1042
-
-
Sikkema-Raddatz, B.1
Johansson, L.F.2
De Boer, E.N.3
Almomani, R.4
Boven, L.G.5
Van Den Berg, M.P.6
Van Spaendonck-Zwarts, K.Y.7
Van Tintelen, J.P.8
Sijmons, R.H.9
Jongbloed, J.D.10
Sinke, R.J.11
|