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Items: 1 to 20 of 44

1.

Ryanodine receptor (RyR2) mutations in sudden cardiac death: studies in extended pedigrees and phenotypic characterization in vitro.

Marjamaa A, Laitinen-Forsblom P, Wronska A, Toivonen L, Kontula K, Swan H.

Int J Cardiol. 2011 Mar 3;147(2):246-52. doi: 10.1016/j.ijcard.2009.08.041. Epub 2009 Sep 25.

PMID:
19781797
2.

Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia.

Marjamaa A, Laitinen-Forsblom P, Lahtinen AM, Viitasalo M, Toivonen L, Kontula K, Swan H.

BMC Med Genet. 2009 Feb 12;10:12. doi: 10.1186/1471-2350-10-12.

3.

Catecholaminergic polymorphic ventricular tachycardia caused by a novel mutation in the cardiac ryanodine receptor.

Hasdemir C, Aydin HH, Sahin S, Wollnik B.

Anadolu Kardiyol Derg. 2008 Oct 16;8(5):E35-6. No abstract available.

4.

Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

Berge KE, Haugaa KH, Früh A, Anfinsen OG, Gjesdal K, Siem G, Oyen N, Greve G, Carlsson A, Rognum TO, Hallerud M, Kongsgård E, Amlie JP, Leren TP.

Scand J Clin Lab Invest. 2008;68(5):362-8. doi: 10.1080/00365510701765643.

PMID:
18752142
5.

Dual inheritance of sudden death from cardiovascular causes.

Beckmann BM, Wilde AA, Kääb S.

N Engl J Med. 2008 May 8;358(19):2077-8. doi: 10.1056/NEJMc0708596. No abstract available.

6.

ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor.

Koop A, Goldmann P, Chen SR, Thieleczek R, Varsányi M.

Biophys J. 2008 Jun;94(12):4668-77. doi: 10.1529/biophysj.107.122382. Epub 2008 Mar 7.

7.

Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutations.

Nishio H, Iwata M, Tamura A, Miyazaki T, Tsuboi K, Suzuki K.

Leg Med (Tokyo). 2008 Jul;10(4):196-200. doi: 10.1016/j.legalmed.2007.12.003. Epub 2008 Feb 11.

PMID:
18262818
8.

Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.

Bhuiyan ZA, van den Berg MP, van Tintelen JP, Bink-Boelkens MT, Wiesfeld AC, Alders M, Postma AV, van Langen I, Mannens MM, Wilde AA.

Circulation. 2007 Oct 2;116(14):1569-76. Epub 2007 Sep 17.

9.

A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors.

Tester DJ, Dura M, Carturan E, Reiken S, Wronska A, Marks AR, Ackerman MJ.

Heart Rhythm. 2007 Jun;4(6):733-9. Epub 2007 Mar 3.

10.

Localization of an NH(2)-terminal disease-causing mutation hot spot to the "clamp" region in the three-dimensional structure of the cardiac ryanodine receptor.

Wang R, Chen W, Cai S, Zhang J, Bolstad J, Wagenknecht T, Liu Z, Chen SR.

J Biol Chem. 2007 Jun 15;282(24):17785-93. Epub 2007 Apr 23.

11.

Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies.

George CH, Jundi H, Thomas NL, Fry DL, Lai FA.

J Mol Cell Cardiol. 2007 Jan;42(1):34-50. Epub 2006 Nov 1. Review.

PMID:
17081562
12.

SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.

Poelzing S, Forleo C, Samodell M, Dudash L, Sorrentino S, Anaclerio M, Troccoli R, Iacoviello M, Romito R, Guida P, Chahine M, Pitzalis M, Deschênes I.

Circulation. 2006 Aug 1;114(5):368-76. Epub 2006 Jul 24.

13.

Human cardiac ryanodine receptor mutations in ion channel disorders in Japan.

Aizawa Y, Mitsuma W, Ikrar T, Komura S, Hanawa H, Miyajima S, Miyoshi F, Kobayashi Y, Chinushi M, Kimura A, Hiraoka M, Aizawa Y.

Int J Cardiol. 2007 Mar 20;116(2):263-5. Epub 2006 Jul 14.

PMID:
16843546
14.

Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

Tester DJ, Arya P, Will M, Haglund CM, Farley AL, Makielski JC, Ackerman MJ.

Heart Rhythm. 2006 Jul;3(7):800-5. Epub 2006 Mar 28.

PMID:
16818210
15.

Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.

Milting H, Lukas N, Klauke B, Körfer R, Perrot A, Osterziel KJ, Vogt J, Peters S, Thieleczek R, Varsányi M.

Cardiovasc Res. 2006 Aug 1;71(3):496-505. Epub 2006 Apr 18.

PMID:
16769042
16.
17.

A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia.

Hsueh CH, Weng YC, Chen CY, Lin TK, Lin YH, Lai LP, Lin JL.

Int J Cardiol. 2006 Apr 4;108(2):276-8.

PMID:
16517285
18.
19.

Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.

Yano M, Yamamoto T, Ikeda Y, Matsuzaki M.

Nat Clin Pract Cardiovasc Med. 2006 Jan;3(1):43-52. Review.

PMID:
16391617
20.

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

Postma AV, Denjoy I, Kamblock J, Alders M, Lupoglazoff JM, Vaksmann G, Dubosq-Bidot L, Sebillon P, Mannens MM, Guicheney P, Wilde AA.

J Med Genet. 2005 Nov;42(11):863-70.

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