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Items: 18

1.

Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.

Hiippala A, Tallila J, Myllykangas S, Koskenvuo JW, Alastalo TP.

Am J Med Genet A. 2015 Mar;167A(3):629-34. doi: 10.1002/ajmg.a.36924.

PMID:
25691416
2.

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.

Wemhöner K, Friedrich C, Stallmeyer B, Coffey AJ, Grace A, Zumhagen S, Seebohm G, Ortiz-Bonnin B, Rinné S, Sachse FB, Schulze-Bahr E, Decher N.

J Mol Cell Cardiol. 2015 Mar;80:186-95. doi: 10.1016/j.yjmcc.2015.01.002. Epub 2015 Jan 26.

PMID:
25633834
3.

Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.

Fukuyama M, Wang Q, Kato K, Ohno S, Ding WG, Toyoda F, Itoh H, Kimura H, Makiyama T, Ito M, Matsuura H, Horie M.

Europace. 2014 Dec;16(12):1828-37. doi: 10.1093/europace/euu063. Epub 2014 Apr 12.

PMID:
24728418
4.

Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.

Gao Y, Xue X, Hu D, Liu W, Yuan Y, Sun H, Li L, Timothy KW, Zhang L, Li C, Yan GX.

Circ Arrhythm Electrophysiol. 2013 Jun;6(3):614-22. doi: 10.1161/CIRCEP.113.000092. Epub 2013 Apr 11. Review.

5.

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.

Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, Babul-Hirji R, Chitayat D.

Am J Med Genet A. 2012 Jan;158A(1):182-7. doi: 10.1002/ajmg.a.34355. Epub 2011 Nov 21.

6.

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel.

Napolitano C, Antzelevitch C.

Circ Res. 2011 Mar 4;108(5):607-18. doi: 10.1161/CIRCRESAHA.110.224279. Review.

7.

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome.

Yazawa M, Hsueh B, Jia X, Pasca AM, Bernstein JA, Hallmayer J, Dolmetsch RE.

Nature. 2011 Mar 10;471(7337):230-4. doi: 10.1038/nature09855. Epub 2011 Feb 9.

8.

Ranolazine safely decreases ventricular and atrial fibrillation in Timothy syndrome (LQT8).

Shah DP, Baez-Escudero JL, Weisberg IL, Beshai JF, Burke MC.

Pacing Clin Electrophysiol. 2012 Mar;35(3):e62-4. doi: 10.1111/j.1540-8159.2010.02913.x. Epub 2010 Sep 30.

PMID:
20883512
9.

Beta-adrenergic modulation of arrhythmogenesis and identification of targeted sites of antiarrhythmic therapy in Timothy (LQT8) syndrome: a theoretical study.

Sung RJ, Wu YH, Lai NH, Teng CH, Luo CH, Tien HC, Lo CP, Wu SN.

Am J Physiol Heart Circ Physiol. 2010 Jan;298(1):H33-44. doi: 10.1152/ajpheart.00232.2009. Epub 2009 Oct 23.

10.

The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation.

Yarotskyy V, Gao G, Peterson BZ, Elmslie KS.

J Physiol. 2009 Feb 1;587(3):551-65. doi: 10.1113/jphysiol.2008.161737. Epub 2008 Dec 15.

11.

Proarrhythmic defects in Timothy syndrome require calmodulin kinase II.

Thiel WH, Chen B, Hund TJ, Koval OM, Purohit A, Song LS, Mohler PJ, Anderson ME.

Circulation. 2008 Nov 25;118(22):2225-34. doi: 10.1161/CIRCULATIONAHA.108.788067. Epub 2008 Nov 10.

12.

Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8).

Jacobs A, Knight BP, McDonald KT, Burke MC.

Heart Rhythm. 2006 Aug;3(8):967-70. Epub 2006 Apr 29. No abstract available.

PMID:
16876748
13.

Syndactyly and long QT syndrome (CaV1.2 missense mutation G406R) is associated with hypertrophic cardiomyopathy.

Lo-A-Njoe SM, Wilde AA, van Erven L, Blom NA.

Heart Rhythm. 2005 Dec;2(12):1365-8. No abstract available.

PMID:
16360093
14.

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT.

Proc Natl Acad Sci U S A. 2005 Jun 7;102(23):8089-96; discussion 8086-8. Epub 2005 Apr 29.

15.

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT.

Cell. 2004 Oct 1;119(1):19-31.

16.

A new form of long QT syndrome associated with syndactyly.

Marks ML, Whisler SL, Clericuzio C, Keating M.

J Am Coll Cardiol. 1995 Jan;25(1):59-64. Review.

17.

Long QT syndrome associated with syndactyly identified in females.

Marks ML, Trippel DL, Keating MT.

Am J Cardiol. 1995 Oct 1;76(10):744-5.

PMID:
7572644
18.

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