-
1
-
-
0242329842
-
Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome
-
DOI 10.1016/S0140-6736(03)14692-2
-
Behr E, Wood DA, Wright M, Syrris P, Sheppard MN, Casey A, Davies MJ, McKenna W; Sudden Arrhythmic Death Syndrome Steering Group. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet. 2003;362:1457-1459. (Pubitemid 37352884)
-
(2003)
Lancet
, vol.362
, Issue.9394
, pp. 1457-1459
-
-
Behr, E.1
Wood, D.A.2
Wright, M.3
Syrris, P.4
Sheppard, M.N.5
Casey, A.6
Davies, M.J.7
McKenna, W.8
-
2
-
-
22144439771
-
Sudden unexplained death: Heritability and diagnostic yield of cardiological and genetic examination in surviving relatives
-
DOI 10.1161/CIRCULATIONAHA.104.522581
-
Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AA. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005;112:207-213. (Pubitemid 40982303)
-
(2005)
Circulation
, vol.112
, Issue.2
, pp. 207-213
-
-
Tan, H.L.1
Hofman, N.2
Van Langen, I.M.3
Van Der Wal, A.C.4
Wilde, A.A.M.5
-
3
-
-
35148819135
-
Contribution of inherited heart disease to sudden cardiac death in childhood
-
DOI 10.1542/peds.2006-3751
-
Hofman N, Tan HL, Clur SA, Alders M, van Langen IM, Wilde AA. Contribution of inherited heart disease to sudden cardiac death in childhood. Pediatrics. 2007;120:e967-e973. (Pubitemid 47549542)
-
(2007)
Pediatrics
, vol.120
, Issue.4
-
-
Hofman, N.1
Tan, H.L.2
Clur, S.-A.3
Alders, M.4
Van Langen, I.M.5
Wilde, A.A.M.6
-
4
-
-
46849110148
-
Sudden arrhythmic death syndrome: Familial evaluation identifies inheritable heart disease in the majority of families
-
DOI 10.1093/eurheartj/ehn219
-
Behr ER, Dalageorgou C, Christiansen M, Syrris P, Hughes S, Tome Esteban MT, Rowland E, Jeffery S, McKenna WJ. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008;29:1670-1680. (Pubitemid 351957547)
-
(2008)
European Heart Journal
, vol.29
, Issue.13
, pp. 1670-1680
-
-
Behr, E.R.1
Dalageorgou, C.2
Christiansen, M.3
Syrris, P.4
Hughes, S.5
Tome Esteban, M.T.6
Rowland, E.7
Jeffery, S.8
McKenna, W.J.9
-
5
-
-
77957257904
-
Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: The experience of a tertiary referral center in the Netherlands
-
van der Werf C, Hofman N, Tan HL, van Dessel PF, Alders M, van der Wal AC, van Langen IM, Wilde AA. Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands. Heart Rhythm. 2010;7: 1383-1389.
-
(2010)
Heart Rhythm
, vol.7
, pp. 1383-1389
-
-
Van Der Werf, C.1
Hofman, N.2
Tan, H.L.3
Van Dessel, P.F.4
Alders, M.5
Van Der Wal, A.C.6
Van Langen, I.M.7
Wilde, A.A.8
-
6
-
-
33748141992
-
The role of molecular autopsy in unexplained sudden cardiac death
-
DOI 10.1097/01.hco.0000221576.33501.83, PII 0000157320060500000004
-
Tester DJ, Ackerman MJ. The role of molecular autopsy in unexplained sudden cardiac death. Curr Opin Cardiol. 2006;21:166-172. (Pubitemid 44315078)
-
(2006)
Current Opinion in Cardiology
, vol.21
, Issue.3
, pp. 166-172
-
-
Tester, D.J.1
Ackerman, M.J.2
-
7
-
-
77952722441
-
Active cascade screening in primary inherited arrhythmia syndromes: Does it lead to prophylactic treatment
-
Hofman N, Tan HL, Alders M, van Langen IM, Wilde AA. Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment J Am Coll Cardiol. 2010;55:2570-2576.
-
(2010)
J Am Coll Cardiol
, vol.55
, pp. 2570-2576
-
-
Hofman, N.1
Tan, H.L.2
Alders, M.3
Van Langen, I.M.4
Wilde, A.A.5
-
8
-
-
79960867817
-
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies
-
Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Heart Rhythm. 2011; 8:1308-1339.
-
(2011)
Heart Rhythm
, vol.8
, pp. 1308-1339
-
-
Ackerman, M.J.1
Priori, S.G.2
Willems, S.3
Berul, C.4
Brugada, R.5
Calkins, H.6
Camm, A.J.7
Ellinor, P.T.8
Gollob, M.9
Hamilton, R.10
Hershberger, R.E.11
Judge, D.P.12
Le Marec, H.13
McKenna, W.J.14
Schulze-Bahr, E.15
Semsarian, C.16
Towbin, J.A.17
Watkins, H.18
Wilde, A.19
Wolpert, C.20
Zipes, D.P.21
more..
-
9
-
-
70349338813
-
Yield of genetic screening in inherited cardiac channelopathies: How to prioritize access to genetic testing
-
Bai R, Napolitano C, Bloise R, Monteforte N, Priori SG. Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic testing. Circ Arrhythm Electrophysiol. 2009;2:6-15.
-
(2009)
Circ Arrhythm Electrophysiol
, vol.2
, pp. 6-15
-
-
Bai, R.1
Napolitano, C.2
Bloise, R.3
Monteforte, N.4
Priori, S.G.5
-
10
-
-
84867081985
-
Spectrum and prevalence of mutations involving BrS1-through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: Implications for genetic testing
-
Crotti L, Marcou CA, Tester DJ, Castelletti S, Giudicessi JR, Torchio M, Medeiros-Domingo A, Simone S, Will ML, Dagradi F, Schwartz PJ, Ackerman MJ. Spectrum and prevalence of mutations involving BrS1-through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J Am Coll Cardiol. 2012;60:1410-1418.
-
(2012)
J Am Coll Cardiol
, vol.60
, pp. 1410-1418
-
-
Crotti, L.1
Marcou, C.A.2
Tester, D.J.3
Castelletti, S.4
Giudicessi, J.R.5
Torchio, M.6
Medeiros-Domingo, A.7
Simone, S.8
Will, M.L.9
Dagradi, F.10
Schwartz, P.J.11
Ackerman, M.J.12
-
11
-
-
20044382630
-
Yield of genetic testing in hypertrophic cardiomyopathy
-
Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clin Proc. 2005;80:739-744. (Pubitemid 40770360)
-
(2005)
Mayo Clinic Proceedings
, vol.80
, Issue.6
, pp. 739-744
-
-
Van Driest, S.L.1
Ommen, S.R.2
Tajik, A.J.3
Gersh, B.J.4
Ackerman, M.J.5
-
12
-
-
84878318267
-
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: Overview of 10 years' experience
-
van Spaendonck-Zwarts KY, van Rijsingen IA, van den Berg MP, Lekanne Deprez RH, Post JG, van Mil AM, Asselbergs FW, Christiaans I, van Langen IM, Wilde AA, de Boer RA, Jongbloed JD, Pinto YM, van Tintelen JP. Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. Eur J Heart Fail. 2013;15:628-636.
-
(2013)
Eur J Heart Fail
, vol.15
, pp. 628-636
-
-
Van Spaendonck-Zwarts, K.Y.1
Van Rijsingen, I.A.2
Van Den Berg, M.P.3
Lekanne Deprez, R.H.4
Post, J.G.5
Van Mil, A.M.6
Asselbergs, F.W.7
Christiaans, I.8
Van Langen, I.M.9
Wilde, A.A.10
De Boer, R.A.11
Jongbloed, J.D.12
Pinto, Y.M.13
Van Tintelen, J.P.14
-
13
-
-
84886088540
-
Adverse effects of seasonal flu vaccine and new influenza A (H1N1) vaccine in health care workers [in Spanish]
-
Inglés J, Gil Soto R, Carreras Valls R, Valverde Lozano J, Benito Carreras D, Besora Cunillera A. Adverse effects of seasonal flu vaccine and new influenza A (H1N1) vaccine in health care workers [in Spanish]. Arch Prev Riesgos Labor. 2013;16:11-16.
-
(2013)
Arch Prev Riesgos Labor
, vol.16
, pp. 11-16
-
-
Inglés, J.1
Gil Soto, R.2
Carreras Valls, R.3
Valverde Lozano, J.4
Benito Carreras, D.5
Besora Cunillera, A.6
-
14
-
-
2442671474
-
Family and population strategies for screening and counselling of inherited cardiac arrhythmias
-
DOI 10.1080/17431380410032526
-
van Langen IM, Hofman N, Tan HL, Wilde AA. Family and population strategies for screening and counselling of inherited cardiac arrhythmias. Ann Med. 2004;36(suppl 1):116-124. (Pubitemid 38669933)
-
(2004)
Annals of Medicine
, vol.36
, Issue.SUPPL. 1
, pp. 116-124
-
-
Van Langen, I.M.1
Hofman, N.2
Tan, H.L.3
Wilde, A.A.M.4
-
15
-
-
79952083912
-
Bioinformatics for next generation sequencing data
-
Magi A, Benelli M, Gozzini A, Girolami F, Torricelli F, Brandi ML. Bioinformatics for next generation sequencing data. Genes. 2010; 1:294-307.
-
(2010)
Genes
, vol.1
, pp. 294-307
-
-
Magi, A.1
Benelli, M.2
Gozzini, A.3
Girolami, F.4
Torricelli, F.5
Brandi, M.L.6
-
16
-
-
77952971659
-
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: Spectrum of mutations and clinical impact in practice
-
Fressart V, Duthoit G, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Dubourg O, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Simon F, Bessirard V, Roux-Buisson N, Hebert JL, Azarine A, Casset-Senon D, Rouzet F, Lecarpentier Y, Fontaine G, Coirault C, Frank R, Hainque B, Charron P. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace. 2010;12: 861-868.
-
(2010)
Europace
, vol.12
, pp. 861-868
-
-
Fressart, V.1
Duthoit, G.2
Donal, E.3
Probst, V.4
Deharo, J.C.5
Chevalier, P.6
Klug, D.7
Dubourg, O.8
Delacretaz, E.9
Cosnay, P.10
Scanu, P.11
Extramiana, F.12
Keller, D.13
Hidden-Lucet, F.14
Simon, F.15
Bessirard, V.16
Roux-Buisson, N.17
Hebert, J.L.18
Azarine, A.19
Casset-Senon, D.20
Rouzet, F.21
Lecarpentier, Y.22
Fontaine, G.23
Coirault, C.24
Frank, R.25
Hainque, B.26
Charron, P.27
more..
-
17
-
-
72449180918
-
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia
-
Bauce B, Nava A, Beffagna G, Basso C, Lorenzon A, Smaniotto G, De Bortoli M, Rigato I, Mazzotti E, Steriotis A, Marra MP, Towbin JA, Thiene G, Danieli GA, Rampazzo A. Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm. 2010;7:22-29.
-
(2010)
Heart Rhythm
, vol.7
, pp. 22-29
-
-
Bauce, B.1
Nava, A.2
Beffagna, G.3
Basso, C.4
Lorenzon, A.5
Smaniotto, G.6
De Bortoli, M.7
Rigato, I.8
Mazzotti, E.9
Steriotis, A.10
Marra, M.P.11
Towbin, J.A.12
Thiene, G.13
Danieli, G.A.14
Rampazzo, A.15
-
18
-
-
73049094924
-
Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia
-
Barahona-Dussault C, Benito B, Campuzano O, Iglesias A, Leung TL, Robb L, Talajic M, Brugada R. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Clin Genet. 2010;77:37-48.
-
(2010)
Clin Genet
, vol.77
, pp. 37-48
-
-
Barahona-Dussault, C.1
Benito, B.2
Campuzano, O.3
Iglesias, A.4
Leung, T.L.5
Robb, L.6
Talajic, M.7
Brugada, R.8
-
19
-
-
78149361865
-
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy
-
Christensen AH, Benn M, Bundgaard H, Tybjaerg-Hansen A, Haunso S, Svendsen JH. Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 2010;47:736-744.
-
(2010)
J Med Genet
, vol.47
, pp. 736-744
-
-
Christensen, A.H.1
Benn, M.2
Bundgaard, H.3
Tybjaerg-Hansen, A.4
Haunso, S.5
Svendsen, J.H.6
-
20
-
-
35548997132
-
Role of Genetic Analysis in the Management of Patients With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
-
DOI 10.1016/j.jacc.2007.08.008, PII S0735109707026496
-
Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2007;50:1813-1821. (Pubitemid 350007965)
-
(2007)
Journal of the American College of Cardiology
, vol.50
, Issue.19
, pp. 1813-1821
-
-
Sen-Chowdhry, S.1
Syrris, P.2
McKenna, W.J.3
-
21
-
-
64249126720
-
Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation
-
Alders M, Koopmann TT, Christiaans I, Postema PG, Beekman L, Tanck MW, Zeppenfeld K, Loh P, Koch KT, Demolombe S, Mannens MM, Bezzina CR, Wilde AA. Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. Am J Hum Genet. 2009;84:468-476.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 468-476
-
-
Alders, M.1
Koopmann, T.T.2
Christiaans, I.3
Postema, P.G.4
Beekman, L.5
Tanck, M.W.6
Zeppenfeld, K.7
Loh, P.8
Koch, K.T.9
Demolombe, S.10
Mannens, M.M.11
Bezzina, C.R.12
Wilde, A.A.13
-
22
-
-
0142104868
-
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands
-
DOI 10.1016/S0195-668X(03)00466-4
-
Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J. 2003;24:1848-1853. (Pubitemid 37280251)
-
(2003)
European Heart Journal
, vol.24
, Issue.20
, pp. 1848-1853
-
-
Alders, M.1
Jongbloed, R.2
Deelen, W.3
Van Den Wijngaard, A.4
Doevendans, P.5
Cate, F.T.6
Regitz-Zagrosek, V.7
Vosberg, H.-P.8
Van Langen, I.9
Wilde, A.10
Dooijes, D.11
Mannens, M.12
-
23
-
-
77953277782
-
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands
-
Christiaans I, Nannenberg EA, Dooijes D, Jongbloed RJ, Michels M, Postema PG, Majoor-Krakauer D, van den Wijngaard A, Mannens MM, van Tintelen JP, van Langen IM, Wilde AA. Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J. 2010;18:248-254.
-
(2010)
Neth Heart J
, vol.18
, pp. 248-254
-
-
Christiaans, I.1
Nannenberg, E.A.2
Dooijes, D.3
Jongbloed, R.J.4
Michels, M.5
Postema, P.G.6
Majoor-Krakauer, D.7
Van Den Wijngaard, A.8
Mannens, M.M.9
Van Tintelen, J.P.10
Van Langen, I.M.11
Wilde, A.A.12
-
24
-
-
79955377459
-
Recurrent and founder mutations in the Netherlands: The long-QT syndrome
-
Hofman N, Jongbloed R, Postema PG, Nannenberg E, Alders M, Wilde AA. Recurrent and founder mutations in the Netherlands: the long-QT syndrome. Neth Heart J. 2011;19:10-16.
-
(2011)
Neth Heart J
, vol.19
, pp. 10-16
-
-
Hofman, N.1
Jongbloed, R.2
Postema, P.G.3
Nannenberg, E.4
Alders, M.5
Wilde, A.A.6
-
25
-
-
79961163474
-
Founder mutations in the Netherlands: Familial idiopathic ventricular fibrillation and DPP6
-
Postema PG, Christiaans I, Hofman N, Alders M, Koopmann TT, Bezzina CR, Loh P, Zeppenfeld K, Volders PG, Wilde AA. Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6. Neth Heart J. 2011;19:290-296.
-
(2011)
Neth Heart J
, vol.19
, pp. 290-296
-
-
Postema, P.G.1
Christiaans, I.2
Hofman, N.3
Alders, M.4
Koopmann, T.T.5
Bezzina, C.R.6
Loh, P.7
Zeppenfeld, K.8
Volders, P.G.9
Wilde, A.A.10
-
26
-
-
71649092744
-
Founder mutations in the Netherlands: SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide
-
Postema PG, Van den Berg M, Van Tintelen JP, Van den Heuvel F, Grundeken M, Hofman N, Van der Roest WP, Nannenberg EA, Krapels IP, Bezzina CR, Wilde A. Founder mutations in the Netherlands: SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide. Neth Heart J. 2009;17:422-428.
-
(2009)
Neth Heart J
, vol.17
, pp. 422-428
-
-
Postema, P.G.1
Van Den Berg, M.2
Van Tintelen, J.P.3
Van Den Heuvel, F.4
Grundeken, M.5
Hofman, N.6
Van Der Roest, W.P.7
Nannenberg, E.A.8
Krapels, I.P.9
Bezzina, C.R.10
Wilde, A.11
-
27
-
-
62549090164
-
Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes
-
Posch MG, Perrot A, Geier C, Boldt LH, Schmidt G, Lehmkuhl HB, Hetzer R, Dietz R, Gutberlet M, Haverkamp W, Ozcelik C. Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. Heart Rhythm. 2009;6:480-486.
-
(2009)
Heart Rhythm
, vol.6
, pp. 480-486
-
-
Posch, M.G.1
Perrot, A.2
Geier, C.3
Boldt, L.H.4
Schmidt, G.5
Lehmkuhl, H.B.6
Hetzer, R.7
Dietz, R.8
Gutberlet, M.9
Haverkamp, W.10
Ozcelik, C.11
-
28
-
-
84867736080
-
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: Evidence supporting the concept of arrhythmogenic cardiomyopathy
-
van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, Christiaans I, van Spaendonck-Zwarts KY, Lekanne dit Deprez RH, Judge DP, Calkins H, Suurmeijer AJ, Hauer RN, Saffitz JE, Wilde AA, van den Berg MP, van Tintelen JP. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail. 2012;14:1199-1207.
-
(2012)
Eur J Heart Fail
, vol.14
, pp. 1199-1207
-
-
Van Der Zwaag, P.A.1
Van Rijsingen, I.A.2
Asimaki, A.3
Jongbloed, J.D.4
Van Veldhuisen, D.J.5
Wiesfeld, A.C.6
Cox, M.G.7
Van Lochem, L.T.8
De Boer, R.A.9
Hofstra, R.M.10
Christiaans, I.11
Van Spaendonck-Zwarts, K.Y.12
Lekanne Dit Deprez, R.H.13
Judge, D.P.14
Calkins, H.15
Suurmeijer, A.J.16
Hauer, R.N.17
Saffitz, J.E.18
Wilde, A.A.19
Van Den Berg, M.P.20
Van Tintelen, J.P.21
more..
-
29
-
-
32644436410
-
Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing
-
DOI 10.1016/j.jacc.2005.09.056, PII S0735109705028007
-
Tester DJ, Will ML, Haglund CM, Ackerman MJ. Effect of clinical phenotype on yield of long QT syndrome genetic testing. J Am Coll Cardiol. 2006;47:764-768. (Pubitemid 43243098)
-
(2006)
Journal of the American College of Cardiology
, vol.47
, Issue.4
, pp. 764-768
-
-
Tester, D.J.1
Will, M.L.2
Haglund, C.M.3
Ackerman, M.J.4
-
30
-
-
84879920244
-
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory
-
Lieve KV, Williams L, Daly A, Richard G, Bale S, Macaya D, Chung WK. Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013;17:553-561.
-
(2013)
Genet Test Mol Biomarkers
, vol.17
, pp. 553-561
-
-
Lieve, K.V.1
Williams, L.2
Daly, A.3
Richard, G.4
Bale, S.5
MacAya, D.6
Chung, W.K.7
-
31
-
-
1442356568
-
Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease
-
Schulze-Bahr E, Eckardt L, Breithardt G, Seidl K, Wichter T, Wolpert C, Borggrefe M, Haverkamp W. Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. Hum Mutat. 2003;21:651-652.
-
(2003)
Hum Mutat
, vol.21
, pp. 651-652
-
-
Schulze-Bahr, E.1
Eckardt, L.2
Breithardt, G.3
Seidl, K.4
Wichter, T.5
Wolpert, C.6
Borggrefe, M.7
Haverkamp, W.8
-
32
-
-
71849090068
-
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: A comprehensive open reading frame mutational analysis
-
Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP, Mannens MM, Wilde AA, Ackerman MJ. The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009;54:2065-2074.
-
(2009)
J Am Coll Cardiol
, vol.54
, pp. 2065-2074
-
-
Medeiros-Domingo, A.1
Bhuiyan, Z.A.2
Tester, D.J.3
Hofman, N.4
Bikker, H.5
Van Tintelen, J.P.6
Mannens, M.M.7
Wilde, A.A.8
Ackerman, M.J.9
-
34
-
-
68949205869
-
Drugs and Brugada syndrome patients: Review of the literature
-
recommendations, and an up-to-date website
-
Postema PG, Wolpert C, Amin AS, Probst V, Borggrefe M, Roden DM, Priori SG, Tan HL, Hiraoka M, Brugada J, Wilde AA. Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). Heart Rhythm. 2009;6:1335-1341.
-
(2009)
Heart Rhythm
, vol.6
, pp. 1335-1341
-
-
Postema, P.G.1
Wolpert, C.2
Amin, A.S.3
Probst, V.4
Borggrefe, M.5
Roden, D.M.6
Priori, S.G.7
Tan, H.L.8
Hiraoka, M.9
Brugada, J.10
Wilde, A.A.11
-
35
-
-
33845708766
-
Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD
-
DOI 10.1161/CIRCULATIONAHA.106.653949, PII 0000301720061212000007
-
Remme CA, Verkerk AO, Nuyens D, van Ginneken AC, van Brunschot S, Belterman CN, Wilders R, van Roon MA, Tan HL, Wilde AA, Carmeliet P, de Bakker JM, Veldkamp MW, Bezzina CR. Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD. Circulation. 2006;114:2584-2594. (Pubitemid 44967341)
-
(2006)
Circulation
, vol.114
, Issue.24
, pp. 2584-2594
-
-
Remme, C.A.1
Verkerk, A.O.2
Nuyens, D.3
Van Ginneken, A.C.G.4
Van Brunschot, S.5
Belterman, C.N.W.6
Wilders, R.7
Van Roon, M.A.8
Tan, H.L.9
Wilde, A.A.M.10
Carmeliet, P.11
De Bakker, J.M.T.12
Veldkamp, M.W.13
Bezzina, C.R.14
-
36
-
-
84858417162
-
Variants in the 3 untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner
-
Amin AS, Giudicessi JR, Tijsen AJ, Spanjaart AM, Reckman YJ, Klemens CA, Tanck MW, Kapplinger JD, Hofman N, Sinner MF, Müller M, Wijnen WJ, Tan HL, Bezzina CR, Creemers EE, Wilde AA, Ackerman MJ, Pinto YM. Variants in the 3 untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. Eur Heart J. 2012;33:714-723.
-
(2012)
Eur Heart J
, vol.33
, pp. 714-723
-
-
Amin, A.S.1
Giudicessi, J.R.2
Tijsen, A.J.3
Spanjaart, A.M.4
Reckman, Y.J.5
Klemens, C.A.6
Tanck, M.W.7
Kapplinger, J.D.8
Hofman, N.9
Sinner, M.F.10
Müller, M.11
Wijnen, W.J.12
Tan, H.L.13
Bezzina, C.R.14
Creemers, E.E.15
Wilde, A.A.16
Ackerman, M.J.17
Pinto, Y.M.18
-
37
-
-
78249247718
-
Sudden cardiac death with normal heart: Molecular autopsy
-
Basso C, Carturan E, Pilichou K, Rizzo S, Corrado D, Thiene G. Sudden cardiac death with normal heart: molecular autopsy. Cardiovasc Pathol. 2010;19:321-325.
-
(2010)
Cardiovasc Pathol
, vol.19
, pp. 321-325
-
-
Basso, C.1
Carturan, E.2
Pilichou, K.3
Rizzo, S.4
Corrado, D.5
Thiene, G.6
-
38
-
-
79951596179
-
Guidelines for autopsy investigation of sudden cardiac death
-
Association for European Cardiovascular Pathology
-
Basso C, Burke M, Fornes P, Gallagher PJ, De Gouveia RH, Sheppard M, Thiene G, Van Der Wal A; Association for European Cardiovascular Pathology. Guidelines for autopsy investigation of sudden cardiac death. Pathologica. 2010;102:391-404.
-
(2010)
Pathologica
, vol.102
, pp. 391-404
-
-
Basso, C.1
Burke, M.2
Fornes, P.3
Gallagher, P.J.4
De Gouveia, R.H.5
Sheppard, M.6
Thiene, G.7
Van Der Wal, A.8
-
39
-
-
84863484022
-
Cardiac channel molecular autopsy: Insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing
-
Tester DJ, Medeiros-Domingo A, Will ML, Haglund CM, Ackerman MJ. Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012;87:524-539.
-
(2012)
Mayo Clin Proc
, vol.87
, pp. 524-539
-
-
Tester, D.J.1
Medeiros-Domingo, A.2
Will, M.L.3
Haglund, C.M.4
Ackerman, M.J.5
-
40
-
-
53249093720
-
Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy
-
Christiaans I, Birnie E, Bonsel GJ, Wilde AA, van Langen IM. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet. 2008;16:1201-1207.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1201-1207
-
-
Christiaans, I.1
Birnie, E.2
Bonsel, G.J.3
Wilde, A.A.4
Van Langen, I.M.5
-
42
-
-
0033614501
-
Opsporing van patienten met familiaire hypercholesterolemie in Nederland
-
Umans-Eckenhausen MA, Defesche JC, Scheerder RL, Cliné F, Kastelein JJ. Tracing of patients with familial hypercholesterolemia in the Netherlands [in Dutch]. Ned Tijdschr Geneeskd. 1999;143:1157-1161. (Pubitemid 29254319)
-
(1999)
Nederlands Tijdschrift voor Geneeskunde
, vol.143
, Issue.22
, pp. 1157-1161
-
-
Umans-Eckenhausen, M.A.W.1
Defesche, J.C.2
Scheerder, R.L.J.M.3
Cline, F.4
Kastelein, J.J.P.5
-
43
-
-
70449359365
-
Genetic testing for long-QT syndrome: Distinguishing pathogenic mutations from benign variants
-
Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ. Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009;120:1752-1760.
-
(2009)
Circulation
, vol.120
, pp. 1752-1760
-
-
Kapa, S.1
Tester, D.J.2
Salisbury, B.A.3
Harris-Kerr, C.4
Pungliya, M.S.5
Alders, M.6
Wilde, A.A.7
Ackerman, M.J.8
-
44
-
-
79957975773
-
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia- associated mutations from background genetic noise
-
Kapplinger JD, Landstrom AP, Salisbury BA, Callis TE, Pollevick GD, Tester DJ, Cox MG, Bhuiyan Z, Bikker H, Wiesfeld AC, Hauer RN, van Tintelen JP, Jongbloed JD, Calkins H, Judge DP, Wilde AA, Ackerman MJ. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol. 2011;57:2317-2327.
-
(2011)
J Am Coll Cardiol
, vol.57
, pp. 2317-2327
-
-
Kapplinger, J.D.1
Landstrom, A.P.2
Salisbury, B.A.3
Callis, T.E.4
Pollevick, G.D.5
Tester, D.J.6
Cox, M.G.7
Bhuiyan, Z.8
Bikker, H.9
Wiesfeld, A.C.10
Hauer, R.N.11
Van Tintelen, J.P.12
Jongbloed, J.D.13
Calkins, H.14
Judge, D.P.15
Wilde, A.A.16
Ackerman, M.J.17
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