Literature DB >> 11594341

Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions.

P Syrris, A Murray, N D Carter, W M McKenna, S Jeffery.   

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Year:  2001        PMID： 11594341      PMCID： PMC1734746          DOI： 10.1136/jmg.38.10.705

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

1.  Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

Authors:  Ling-Ping Lai; Yi-Ning Su; Fu-Tien Chiang; Jyh-Ming Juang; Yen-Bin Liu; Yi-Lwun Ho; Wen-Jone Chen; San-Jou Yeh; Chun-Chieh Wang; Yu-Lin Ko; Tsu-Juey Wu; Kwo-Chang Ueng; Meng-Huan Lei; Hsuan-Ming Tsao; Shih-Ann Chen; Tin-Kwang Lin; Mei-Hwan Wu; Huey-Ming Lo; Shoei K Stephen Huang; Jiunn-Lee Lin
Journal:  J Hum Genet       Date:  2005-09-10       Impact factor: 3.172

2.  Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.

Authors:  Seok Hwee Koo; Woon Fei Ho; Edmund Jon Deoon Lee
Journal:  Br J Clin Pharmacol       Date:  2006-03       Impact factor: 4.335

Review 3.  Novel mutations of KCNQ1 in Long QT syndrome.

Authors:  Sameera F Qureshi; Altaf Ali; Venkateshwari Ananthapur; M P Jayakrishnan; Narasimhan Calambur; Kumarasamy Thangaraj; Pratibha Nallari
Journal:  Indian Heart J       Date:  2013-09-04

4.  Dysfunctional potassium channel subunit interaction as a novel mechanism of long QT syndrome.

Authors:  Michael Hoosien; Mary Ellen Ahearn; Robert J Myerburg; Thai V Pham; Todd E Miller; Marcel J Smets; Lisa Baumbach-Reardon; Ming-Lon Young; Amjad Farooq; Nanette H Bishopric
Journal:  Heart Rhythm       Date:  2013-01-02       Impact factor: 6.343

5.  Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome.

Authors:  Misha Angrist; Subhashini Chandrasekharan; Christopher Heaney; Robert Cook-Deegan
Journal:  Genet Med       Date:  2010-04       Impact factor: 8.864

6.  The SCN5A mutation A1180V is associated with electrocardiographic features of LQT3.

Authors:  Yanmin Zhang; Juanli Wang; Suer Chang; Nan Zhou; Haijian Xing; Lei Wang; Chen Huang; Aiqun Ma; Christopher L-H Huang; Ming Lei; James A Fraser
Journal:  Pediatr Cardiol       Date:  2013-08-21       Impact factor: 1.655

7.  Etiology of sudden death in the community: results of anatomical, metabolic, and genetic evaluation.

Authors:  A Selcuk Adabag; Garry Peterson; Fred S Apple; Jack Titus; Richard King; Russell V Luepker
Journal:  Am Heart J       Date:  2010-01       Impact factor: 4.749

8.  A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death.

Authors:  Yanmin Zhang; Nan Zhou; Wenhui Jiang; Jun Peng; Hongmei Wan; Chen Huang; Zenghui Xie; Christopher L-H Huang; Andrew A Grace; Aiqun Ma
Journal:  Eur J Pediatr       Date:  2006-12-14       Impact factor: 3.183

9.  Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.

Authors:  Y Zhang; T Wang; A Ma; X Zhou; J Gui; H Wan; R Shi; C Huang; A A Grace; C L-H Huang; D Trump; H Zhang; T Zimmer; M Lei
Journal:  Acta Physiol (Oxf)       Date:  2008-07-24       Impact factor: 6.311

10.  The cardiac sodium channel mutation delQKP 1507-1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death.

Authors:  Ruiming Shi; Yanmin Zhang; Chun Yang; Chen Huang; Xihui Zhou; Hua Qiang; Andrew A Grace; Christopher L-H Huang; Aiqun Ma
Journal:  Europace       Date:  2008-08-12       Impact factor: 5.214
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