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Items: 1 to 20 of 109

1.

Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease.

Zhang F, Dai L, Lin W, Wang W, Liu X, Zhang J, Yang T, Liu X, Shen H, Chen X, Tan L, Tian Q, Deng HW, Xu X, Guo X.

Funct Integr Genomics. 2016 Jan;16(1):13-7. doi: 10.1007/s10142-015-0462-z. Epub 2015 Aug 20.

PMID:
26290467
2.

Brugada syndrome: clinical and genetic findings.

Sarquella-Brugada G, Campuzano O, Arbelo E, Brugada J, Brugada R.

Genet Med. 2016 Jan;18(1):3-12. doi: 10.1038/gim.2015.35. Epub 2015 Apr 23. Review.

PMID:
25905440
3.

Common and rare variants in SCN10A modulate the risk of atrial fibrillation.

Jabbari J, Olesen MS, Yuan L, Nielsen JB, Liang B, Macri V, Christophersen IE, Nielsen N, Sajadieh A, Ellinor PT, Grunnet M, Haunsø S, Holst AG, Svendsen JH, Jespersen T.

Circ Cardiovasc Genet. 2015 Feb;8(1):64-73. doi: 10.1161/HCG.0000000000000022. Erratum in: Circ Cardiovasc Genet. 2016 Feb;9(1):100.

4.

Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases.

Hertz CL, Christiansen SL, Ferrero-Miliani L, Fordyce SL, Dahl M, Holst AG, Ottesen GL, Frank-Hansen R, Bundgaard H, Morling N.

Int J Legal Med. 2015 Jul;129(4):793-800. doi: 10.1007/s00414-014-1105-y. Epub 2014 Dec 3.

PMID:
25467552
5.

Evaluation of genes encoding for the transient outward current (Ito) identifies the KCND2 gene as a cause of J-wave syndrome associated with sudden cardiac death.

Perrin MJ, Adler A, Green S, Al-Zoughool F, Doroshenko P, Orr N, Uppal S, Healey JS, Birnie D, Sanatani S, Gardner M, Champagne J, Simpson C, Ahmad K, van den Berg MP, Chauhan V, Backx PH, van Tintelen JP, Krahn AD, Gollob MH.

Circ Cardiovasc Genet. 2014 Dec;7(6):782-9. doi: 10.1161/CIRCGENETICS.114.000623. Epub 2014 Sep 11.

6.

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF.

Hum Mol Genet. 2014 Jul 1;23(13):3481-9. doi: 10.1093/hmg/ddu056. Epub 2014 Feb 5.

7.

ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.

Hu D, Barajas-Martínez H, Terzic A, Park S, Pfeiffer R, Burashnikov E, Wu Y, Borggrefe M, Veltmann C, Schimpf R, Cai JJ, Nam GB, Deshmukh P, Scheinman M, Preminger M, Steinberg J, López-Izquierdo A, Ponce-Balbuena D, Wolpert C, Haïssaguerre M, Sánchez-Chapula JA, Antzelevitch C.

Int J Cardiol. 2014 Feb 15;171(3):431-42. doi: 10.1016/j.ijcard.2013.12.084. Epub 2014 Jan 4.

8.

Gain-of-function Nav1.8 mutations in painful neuropathy.

Faber CG, Lauria G, Merkies IS, Cheng X, Han C, Ahn HS, Persson AK, Hoeijmakers JG, Gerrits MM, Pierro T, Lombardi R, Kapetis D, Dib-Hajj SD, Waxman SG.

Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19444-9. doi: 10.1073/pnas.1216080109. Epub 2012 Oct 31.

9.

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

Hanchate NK, Giacobini P, Lhuillier P, Parkash J, Espy C, Fouveaut C, Leroy C, Baron S, Campagne C, Vanacker C, Collier F, Cruaud C, Meyer V, García-Piñero A, Dewailly D, Cortet-Rudelli C, Gersak K, Metz C, Chabrier G, Pugeat M, Young J, Hardelin JP, Prevot V, Dodé C.

PLoS Genet. 2012 Aug;8(8):e1002896. doi: 10.1371/journal.pgen.1002896. Epub 2012 Aug 23.

10.

Genetics: Mutations in KCND3 linked to spinocerebellar ataxias.

Bible E.

Nat Rev Neurol. 2012 Sep;8(9):472. doi: 10.1038/nrneurol.2012.165. Epub 2012 Aug 14. No abstract available.

PMID:
22890214
11.

"Benign" early repolarization versus malignant early abnormalities: clinical-electrocardiographic distinction and genetic basis.

Pérez-Riera AR, Abreu LC, Yanowitz F, Barros RB, Femenía F, McIntyre WF, Baranchuk A.

Cardiol J. 2012;19(4):337-46. Review.

12.

Brugada syndrome 2012.

Berne P, Brugada J.

Circ J. 2012;76(7):1563-71. Epub 2012 Jun 13. Review.

13.

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E.

Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324.

PMID:
22610116
14.

Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization.

Watanabe H, Nogami A, Ohkubo K, Kawata H, Hayashi Y, Ishikawa T, Makiyama T, Nagao S, Yagihara N, Takehara N, Kawamura Y, Sato A, Okamura K, Hosaka Y, Sato M, Fukae S, Chinushi M, Oda H, Okabe M, Kimura A, Maemura K, Watanabe I, Kamakura S, Horie M, Aizawa Y, Shimizu W, Makita N.

Circ Arrhythm Electrophysiol. 2011 Dec;4(6):874-81. doi: 10.1161/CIRCEP.111.963983. Epub 2011 Oct 25.

15.

KCNE5 polymorphism rs697829 is associated with QT interval and survival in acute coronary syndromes patients.

Palmer BR, Frampton CM, Skelton L, Yandle TG, Doughty RN, Whalley GA, Ellis CJ, Troughton RW, Richards AM, Cameron VA.

J Cardiovasc Electrophysiol. 2012 Mar;23(3):319-24. doi: 10.1111/j.1540-8167.2011.02192.x. Epub 2011 Oct 10.

PMID:
21985337
16.

KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation.

Ohno S, Zankov DP, Ding WG, Itoh H, Makiyama T, Doi T, Shizuta S, Hattori T, Miyamoto A, Naiki N, Hancox JC, Matsuura H, Horie M.

Circ Arrhythm Electrophysiol. 2011 Jun;4(3):352-61. doi: 10.1161/CIRCEP.110.959619. Epub 2011 Apr 14.

17.

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).

Templin C, Ghadri JR, Rougier JS, Baumer A, Kaplan V, Albesa M, Sticht H, Rauch A, Puleo C, Hu D, Barajas-Martinez H, Antzelevitch C, Lüscher TF, Abriel H, Duru F.

Eur Heart J. 2011 May;32(9):1077-88. doi: 10.1093/eurheartj/ehr076. Epub 2011 Mar 7.

18.

Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe amplification.

Eastaugh LJ, James PA, Phelan DG, Davis AM.

J Cardiovasc Electrophysiol. 2011 Sep;22(9):1073-6. doi: 10.1111/j.1540-8167.2010.02003.x. Epub 2011 Feb 2.

PMID:
21288276
19.

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

Sotoodehnia N, Isaacs A, de Bakker PI, Dörr M, Newton-Cheh C, Nolte IM, van der Harst P, Müller M, Eijgelsheim M, Alonso A, Hicks AA, Padmanabhan S, Hayward C, Smith AV, Polasek O, Giovannone S, Fu J, Magnani JW, Marciante KD, Pfeufer A, Gharib SA, Teumer A, Li M, Bis JC, Rivadeneira F, Aspelund T, Köttgen A, Johnson T, Rice K, Sie MP, Wang YA, Klopp N, Fuchsberger C, Wild SH, Mateo Leach I, Estrada K, Völker U, Wright AF, Asselbergs FW, Qu J, Chakravarti A, Sinner MF, Kors JA, Petersmann A, Harris TB, Soliman EZ, Munroe PB, Psaty BM, Oostra BA, Cupples LA, Perz S, de Boer RA, Uitterlinden AG, Völzke H, Spector TD, Liu FY, Boerwinkle E, Dominiczak AF, Rotter JI, van Herpen G, Levy D, Wichmann HE, van Gilst WH, Witteman JC, Kroemer HK, Kao WH, Heckbert SR, Meitinger T, Hofman A, Campbell H, Folsom AR, van Veldhuisen DJ, Schwienbacher C, O'Donnell CJ, Volpato CB, Caulfield MJ, Connell JM, Launer L, Lu X, Franke L, Fehrmann RS, te Meerman G, Groen HJ, Weersma RK, van den Berg LH, Wijmenga C, Ophoff RA, Navis G, Rudan I, Snieder H, Wilson JF, Pramstaller PP, Siscovick DS, Wang TJ, Gudnason V, van Duijn CM, Felix SB, Fishman GI, Jamshidi Y, Stricker BH, Samani NJ, Kääb S, Arking DE.

Nat Genet. 2010 Dec;42(12):1068-76. doi: 10.1038/ng.716. Epub 2010 Nov 14.

20.

Brugada syndrome: Controversies in Risk stratification and Management.

Nunn L, Bhar-Amato J, Lambiase P.

Indian Pacing Electrophysiol J. 2010 Sep 5;10(9):400-9.

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