scholarly article | Q13442814 |
P50 | author | Anita J Moon-Grady | Q86214611 |
Bettina Cuneo | Q87675520 | ||
P2093 | author name string | Alfred L George | |
D Woodrow Benson | |||
Suhong Yu | |||
Ronald T Wakai | |||
Lisa L Murphy | |||
Jennifer D Kunic | |||
P2860 | cites work | Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel | Q24563388 |
Structure and function of splice variants of the cardiac voltage-gated sodium channel Na(v)1.5 | Q28279905 | ||
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome | Q28282448 | ||
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response | Q28471659 | ||
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation | Q31119456 | ||
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation | Q33148552 | ||
Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan | Q33158155 | ||
A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations | Q33159495 | ||
Molecular mechanism for an inherited cardiac arrhythmia | Q33173678 | ||
Prenatal findings in patients with prolonged QT interval in the neonatal period | Q33175112 | ||
Neonatal long QT syndrome and sudden cardiac death | Q33924953 | ||
A molecular link between the sudden infant death syndrome and the long-QT syndrome | Q34509859 | ||
Long QT syndrome and life threatening arrhythmia in a newborn: molecular diagnosis and treatment response | Q35581890 | ||
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome | Q35796614 | ||
Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia | Q37019675 | ||
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel | Q37301466 | ||
Fetal ventricular tachycardia secondary to long QT syndrome treated with maternal intravenous magnesium: case report and review of the literature | Q37592060 | ||
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. | Q40251945 | ||
Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are encoded by new variants of Nav1.5/SCN5A. | Q40382553 | ||
A novel polyclonal antibody specific for the Na(v)1.5 voltage-gated Na(+) channel 'neonatal' splice form | Q40383358 | ||
A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia | Q40504307 | ||
De novo mutation in the SCN5A gene associated with early onset of sudden infant death | Q40782355 | ||
Postnatal outcome of fetal bradycardia without significant cardiac abnormalities | Q44785594 | ||
Images in cardiovascular medicine. Life-threatening neonatal arrhythmia: successful treatment and confirmation of clinically suspected extreme long QT-syndrome-3. | Q44891109 | ||
Efficacy of an implantable cardioverter-defibrillator in a neonate with LQT3 associated arrhythmias | Q45238542 | ||
Prenatal diagnosis and management of fetal Long QT syndrome | Q46425034 | ||
Prenatal diagnosis and in utero treatment of torsades de pointes associated with congenital long QT syndrome | Q47563306 | ||
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome | Q48678936 | ||
Cardiac sodium channel dysfunction in sudden infant death syndrome. | Q51925547 | ||
Wisconsin stillbirth services program: a multifocal approach to stillbirth analysis | Q61840603 | ||
Fetus with long QT syndrome manifested by tachyarrhythmia: a case report | Q73084017 | ||
Fetal sinus bradycardia and the long QT syndrome | Q74544886 | ||
A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online | Q77313509 | ||
P433 | issue | 4 | |
P304 | page(s) | 590-597 | |
P577 | publication date | 2011-11-07 | |
P1433 | published in | Heart Rhythm | Q2058605 |
P1476 | title | Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia | |
P478 | volume | 9 |
Q48462683 | 'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour |
Q34119019 | Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome |
Q42065538 | Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms |
Q50058052 | Biophysical comparison of sodium currents in native cardiac myocytes and human induced pluripotent stem cell-derived cardiomyocytes |
Q58123922 | CRISPR -Mediated Expression of the Fetal Scn5a Isoform in Adult Mice Causes Conduction Defects and Arrhythmias |
Q37327429 | Calmodulin mutations associated with recurrent cardiac arrest in infants |
Q38118751 | Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects |
Q43115368 | Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome |
Q36766298 | Dominant negative consequences of a hERG 1b-specific mutation associated with intrauterine fetal death |
Q43142639 | Enhanced impact of SCN5A mutation associated with long QT syndrome in fetal splice isoform |
Q36018457 | Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death |
Q37317348 | In utero diagnosis of long QT syndrome by magnetocardiography |
Q37702927 | Ion channels under the sun. |
Q89035983 | Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death |
Q37367812 | Long QT syndrome-associated mutations in intrauterine fetal death |
Q36796408 | Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. |
Q41627139 | Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation |
Q50176761 | The congenital long QT syndrome Type 3: An update. |
Q27027884 | Transcriptome complexity in cardiac development and diseases--an expanding universe between genome and phenome |
Q58578329 | Variants: Association With Cardiac Disorders |
Search more.