Clinical Outcomes and Modes of Death in Timothy Syndrome-Reference-Cited by-同舟云学术

Clinical Outcomes and Modes of Death in Timothy Syndrome

Published:2018-04 Issue:4 Volume:4 Page:459-466
ISSN:2405-500X
Container-title:JACC: Clinical Electrophysiology
language:en
Short-container-title:JACC: Clinical Electrophysiology

Author:

Dufendach Keith A.,Timothy Katherine,Ackerman Michael J.,Blevins Benjamin,Pflaumer Andreas,Etheridge Susan,Perry James,Blom Nico A.,Temple Joel,Chowdhury Devyani,Skinner Jonathan R.,Johnsrude Christopher,Bratincsak Andras,Bos J. Martijn,Shah Maully

Publisher

Elsevier BV

Reference27 articles.

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3. Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development;Hiippala;Am J Med Genet A,2015

4. Long QT syndrome with craniofacial, digital, and neurologic features: is it useful to distinguish between Timothy syndrome types 1 and 2?;Diep;Am J Med Genet A,2015

5. Novel Timothy syndrome mutation leading to increase in CACNA1C window current;Boczek;Heart Rhythm,2015

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1. Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation;Stem Cell Research;2024-10

2. An unruly case of functional 2:1 atrioventricular block;Heart Rhythm;2024-08

3. Management of ultrarare inherited arrhythmia syndromes;Heart Rhythm;2024-08

4. Antisense oligonucleotide therapeutic approach for Timothy syndrome;Nature;2024-04-24

5. International Cohort of Neonatal Timothy Syndrome;Neonatology;2024