Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
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SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndromeCellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndromeSpectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic testPhysiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonSex differences in the mechanisms underlying long QT syndromeThe molecular autopsy: should the evaluation continue after the funeral?Clinical and genetic determinants of torsade de pointes riskStructure of the carboxy-terminal region of a KCNH channelCrystallographic basis for calcium regulation of sodium channelsStructure of the C-terminal region of an ERG channel and functional implicationsThe structural mechanism of KCNH-channel regulation by the eag domain.Molecular pathogenesis of long QT syndrome type 1Preparation, functional characterization, and NMR studies of human KCNE1, a voltage-gated potassium channel accessory subunit associated with deafness and long QT syndromeMolecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriersA novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic responseExome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting GenesCongenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.Clinical utility gene card for: long-QT syndrome (types 1-13).High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeationMutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.Congenital long QT syndromes: clinical features, molecular genetics and genetic testing.Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.Recent developments in the management of patients at risk for sudden cardiac death.Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.Risk of syncope in family members who are genotype-negative for a family-associated long-QT syndrome mutationGenetic testing of inherited arrhythmias.Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.Genetic testing for long QT syndrome and the category of cardiac ion channelopathies.Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testingA KCNQ1 mutation causes a high penetrance for familial atrial fibrillation.Long QT syndrome in South Africa: the results of comprehensive genetic screening.Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.Genetics of long QT syndrome.Importance of QT interval in clinical practice.Syncope and cardiac arrest during strenuous exercise associated with a novel mutation in LQTS1.Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy.Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2.Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T).
P2860
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P2860
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Genetic testing in the long QT ...... notyping in clinical practice.
@en
Genetic testing in the long QT ...... notyping in clinical practice.
@nl
type
label
Genetic testing in the long QT ...... notyping in clinical practice.
@en
Genetic testing in the long QT ...... notyping in clinical practice.
@nl
prefLabel
Genetic testing in the long QT ...... notyping in clinical practice.
@en
Genetic testing in the long QT ...... notyping in clinical practice.
@nl
P2093
P50
P356
P1476
Genetic testing in the long QT ...... enotyping in clinical practice
@en
P2093
Elena Ronchetti
Georgia Bottelli
Raffaella Bloise
P304
P356
10.1001/JAMA.294.23.2975
P407
P577
2005-12-01T00:00:00Z