scholarly article | Q13442814 |
P356 | DOI | 10.1111/CGE.12235 |
P698 | PubMed publication ID | 23844633 |
P2093 | author name string | A Tang | |
C Kerr | |||
S McIntosh | |||
H A Jackson | |||
B Casey | |||
B Whittome | |||
L T Arbour | |||
S Asuri | |||
P2860 | cites work | Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias | Q48045058 |
Molecular basis of the long-QT syndrome associated with deafness | Q48049583 | ||
A recessive variant of the Romano-Ward long-QT syndrome? | Q48938472 | ||
Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis | Q50462663 | ||
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. | Q50493312 | ||
Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X. | Q50497138 | ||
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. | Q50499848 | ||
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. | Q51145417 | ||
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Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias | Q24314905 | ||
Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel | Q24318271 | ||
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome | Q24318498 | ||
IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome | Q28251067 | ||
KCNE1 mutations cause jervell and Lange-Nielsen syndrome | Q28253362 | ||
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome | Q28260101 | ||
Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome. | Q30497826 | ||
The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome | Q33151279 | ||
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome | Q33153549 | ||
The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome | Q33154275 | ||
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene | Q33155088 | ||
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family | Q33156168 | ||
The long QT syndrome. Prospective longitudinal study of 328 families | Q33156679 | ||
Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. | Q33158850 | ||
Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2 | Q33159536 | ||
Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome | Q33215010 | ||
A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death. | Q33804950 | ||
Unraveling monogenic channelopathies and their implications for complex polygenic disease | Q33905030 | ||
Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death | Q34241382 | ||
Inner ear defects induced by null mutation of the isk gene | Q34412325 | ||
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss | Q34545156 | ||
KCNQ4: a gene for age-related hearing impairment? | Q34558530 | ||
K(+) cycling and its regulation in the cochlea and the vestibular labyrinth | Q34720775 | ||
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals | Q35904744 | ||
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity | Q36931773 | ||
AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part IV: the ST segment, T and U waves, and the QT interval: a scientific statement from the American Heart Association Electrocardiography and Arrhyth | Q37396694 | ||
Susceptibility genes & modifiers for cardiac arrhythmias | Q37436608 | ||
Prevalence of the congenital long-QT syndrome. | Q37442080 | ||
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome | Q42665516 | ||
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population | Q46301151 | ||
P433 | issue | 1 | |
P921 | main subject | homozygosity | Q114049690 |
P304 | page(s) | 85-90 | |
P577 | publication date | 2013-07-30 | |
P1433 | published in | Clinical Genetics | Q5133760 |
P1476 | title | LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function | |
P478 | volume | 86 |