Results: 34
A pediatric case of Andersen–Tawil syndrome with slowly progressive myopathy.
- Published in:
- Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15828
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- Publication type:
- Article
Reproducibility of corrected QT interval in pediatric genotyped long QT syndrome.
- Published in:
- Pediatrics International, 2016, v. 58, n. 11, p. 1246, doi. 10.1111/ped.13120
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- Publication type:
- Article
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 465, doi. 10.1038/jhg.2014.43
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- Publication type:
- Article
Health Care Utilization by Older Adults in Nepal: An Investigation of Correlates and Equity in Utilization.
- Published in:
- International Journal of Health Services, 2022, v. 52, n. 2, p. 236, doi. 10.1177/0020731420981928
- By:
- Publication type:
- Article
A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1.
- Published in:
- Frontiers in Cellular Neuroscience, 2018, p. 1, doi. 10.3389/fncel.2018.00076
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- Publication type:
- Article
Clinodactyly – A clinical clue to diagnose a hereditary periodic paralysis.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Andersen-Tawil syndrome: A review of literature.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Bidirectional Ventricular Tachycardia: Challenges and Solutions.
- Published in:
- 2022
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- Publication type:
- journal article
Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome.
- Published in:
- Journal of Physiology, 2016, v. 594, n. 12, p. 3245, doi. 10.1113/JP271930
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- Publication type:
- Article
Propafenone is not effective for severe ventricular arrhythmias in Andersen-Tawil syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.
- Published in:
- Canadian Journal of Physiology & Pharmacology, 2015, v. 93, n. 7, p. 569, doi. 10.1139/cjpp-2014-0527
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- Publication type:
- Article
Andersen-Tawil syndrome (LQT7) is associated with alterations in left ventricular rotational mechanics.
- Published in:
- Cardiologia Croatica, 2014, v. 9, n. 5/6, p. 188, doi. 10.15836/ccar.2014.188
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- Publication type:
- Article
Short‐term response to phenytoin sodium in Andersen‐Tawil syndrome‐1 with a cardiac‐dominant phenotype.
- Published in:
- Pacing & Clinical Electrophysiology, 2019, v. 42, n. 2, p. 201, doi. 10.1111/pace.13569
- By:
- Publication type:
- Article
Response to flecainide test in Andersen‐Tawil syndrome with incessant ventricular tachycardia.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Sudden Arrhythmic Death Syndrome: Diagnostic Yield of Comprehensive Clinical Evaluation of Pediatric First-Degree Relatives.
- Published in:
- Pacing & Clinical Electrophysiology, 2014, v. 37, n. 12, p. 1681, doi. 10.1111/pace.12479
- By:
- Publication type:
- Article
Osteogenic and Chondrogenic Master Genes Expression Is Dependent on the Kir2.1 Potassium Channel Through the Bone Morphogenetic Protein Pathway.
- Published in:
- Journal of Bone & Mineral Research, 2018, v. 33, n. 10, p. 1826, doi. 10.1002/jbmr.3474
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- Publication type:
- Article
Up-Regulation of the Inwardly Rectifying K Channel Kir2.1 (KCNJ2) by Protein Kinase B (PKB/Akt) and PIKfyve.
- Published in:
- Journal of Membrane Biology, 2013, v. 246, n. 3, p. 189, doi. 10.1007/s00232-012-9520-9
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- Publication type:
- Article
Andersen's syndrome mutants produce a knockdown of inwardly rectifying K channel in mouse skeletal muscle in vivo.
- Published in:
- Cell & Tissue Research, 2018, v. 371, n. 2, p. 309, doi. 10.1007/s00441-017-2696-7
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- Publication type:
- Article
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Mitochondrial DNA polymorphisms in Andersen-Tawil syndrome.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2020, v. 78, n. 6, p. 581, doi. 10.33963/KP.15274
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- Publication type:
- Article
Komentarz do artykułu "Should a cardioverter- -defibrillator be implanted in an Andersen-Tawil syndrome patient with severe ventricular arrhythmias and syncope?".
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2014, v. 72, n. 10, p. 994, doi. 10.5603/KP.2014.0204
- By:
- Publication type:
- Article
Should a cardioverter-defibrillator be implanted in an Andersen-Tawil syndrome patient with severe ventricular arrhythmias and syncope?
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2014, v. 72, n. 8, p. 755, doi. 10.5603/KP.2014.0153
- By:
- Publication type:
- Article
Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 3, p. 279, doi. 10.1111/cge.12357
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- Publication type:
- Article
Síndrome de Andersen Tawil en una embarazada con alto riesgo de muerte súbita. Reporte de caso.
- Published in:
- Ginecología y Obstetricia de México, 2023, v. 91, n. 2, p. 126, doi. 10.24245/gom.v91i2.7716
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- Publication type:
- Article
Bidirectional Ventricular Tachycardia in a Young Female: A Case of Andersen-Tawil Syndrome.
- Published in:
- Military Medicine, 2023, v. 188, n. 1/2, p. e412, doi. 10.1093/milmed/usab076
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- Publication type:
- Article
Rare health conditions 15: long QT syndrome, Wernicke-Korsakoff syndrome, Zellweger syndrome and Van der Woude syndrome.
- Published in:
- British Journal of Healthcare Assistants, 2018, v. 12, n. 8, p. 386, doi. 10.12968/bjha.2018.12.8.386
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- Publication type:
- Article
Implantable cardioverter defibrillator treatment in long QT syndrome patients: a national study on adherence to international guidelines.
- Published in:
- 2017
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- Publication type:
- journal article
Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0472-x
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- Publication type:
- Article
Obstetric management of a patient with Andersen–Tawil syndrome: A case report.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2021, v. 47, n. 1, p. 446, doi. 10.1111/jog.14553
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- Publication type:
- Article
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.
- Published in:
- Basic Research in Cardiology, 2013, v. 108, n. 3, p. 1, doi. 10.1007/s00395-013-0353-1
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- Publication type:
- Article
Lack of Any Cardiac Involvement in a Patient with Andersen-Tawil Syndrome Associated with the c.574A→G Mutation in KCNJ2.
- Published in:
- Cardiology, 2011, v. 120, n. 4, p. 200, doi. 10.1159/000335529
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- Publication type:
- Article
Markedly reduced ventricular arrhythmia during the peripartum period in a pregnant woman with Andersen-Tawil syndrome
- Published in:
- Journal of Arrhythmia, 2012, v. 28, n. 6, p. 360, doi. 10.1016/j.joa.2012.08.002
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- Publication type:
- Article
Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies.
- Published in:
- Application of Clinical Genetics, 2013, v. 6, p. 1, doi. 10.2147/TACG.S29676
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- Publication type:
- Article
Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.
- Published in:
- FASEB Journal, 2012, v. 26, n. 2, p. 513, doi. 10.1096/fj.11-189126
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- Publication type:
- Article