Long QT syndrome-associated mutations in intrauterine fetal death.
about
Rationale and objectives for ECG screening in infancyInfection: the neglected paradigm in SIDS researchSudden Unexpected Death in Fetal Life Through Early ChildhoodThe MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicineDiagnosis and treatment of fetal arrhythmia.Impact of genetics on the clinical management of channelopathies.hERG 1b is critical for human cardiac repolarizationMolecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencingComplex genetic background in a large family with Brugada syndrome.Factors influencing success of clinical genome sequencing across a broad spectrum of disordersDominant negative consequences of a hERG 1b-specific mutation associated with intrauterine fetal death.Defining Sudden Infant Death and Sudden Intrauterine Unexpected Death Syndromes with Regard to Anatomo-Pathological ExaminationIn utero diagnosis of long QT syndrome by magnetocardiography.Early somatic mosaicism is a rare cause of long-QT syndrome.Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis.The enigmatic cytoplasmic regions of KCNH channels.The natural history of fetal long QT syndrome.Fetal QT Interval Estimation Using Sequential Hypothesis Testing.Importance of Fetal Arrhythmias to the Neonatologist and Pediatrician.In utero Diagnosis of Long QT Syndrome: Challenges, Progress, and the FutureFetal death: an extreme manifestation of maternal anti-fetal rejection.Maternal and neonatal outcomes in labor and at delivery when long QT syndrome is present.The diagnosis and management of long QT syndrome based on fetal echocardiography.Prenatal Diagnosis of Atrioventricular Block and QT Interval Prolongation by Fetal Magnetocardiography in a Fetus with Trisomy 18 and SCN5A R1193Q Variant.Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.We only find what we look for: fetal heart rate and the diagnosis of long-QT syndrome.Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death.The expression of the rare caveolin-3 variant T78M alters cardiac ion channels function and membrane excitability.Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function.Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.Modulation of Kv 11.1 (hERG) channels by 5-(((1H-indazol-5-yl)oxy)methyl)-N-(4-(trifluoromethoxy)phenyl)pyrimidin-2-amine (ITP-2), a novel small molecule activator.Determinants of Isoform-Specific Gating Kinetics of hERG1 Channel: Combined Experimental and Simulation Study.
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Long QT syndrome-associated mutations in intrauterine fetal death.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on April 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Long QT syndrome-associated mutations in intrauterine fetal death.
@en
Long QT syndrome-associated mutations in intrauterine fetal death.
@nl
type
label
Long QT syndrome-associated mutations in intrauterine fetal death.
@en
Long QT syndrome-associated mutations in intrauterine fetal death.
@nl
prefLabel
Long QT syndrome-associated mutations in intrauterine fetal death.
@en
Long QT syndrome-associated mutations in intrauterine fetal death.
@nl
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P2860
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P1476
Long QT syndrome-associated mutations in intrauterine fetal death.
@en
P2093
Alessandra Besana
Alfred L George
Daniel C Bartos
Daniel L Van Dyke
David J Tester
Ellyn J Velasco
Jennifer D Kunic
Jennifer J Bair
Melissa L Will
Michael J Ackerman
P2860
P304
P356
10.1001/JAMA.2013.3219
P407
P577
2013-04-01T00:00:00Z