Results 141 to 150 of about 169,795 (221)
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects [PDF]
, 2000 Päivi Laitinen +7 more
openalex +1 more source
A phenomap of TTR amyloidosis to aid diagnostic screening
ESC Heart Failure, Volume 12, Issue 2, Page 1113-1118, April 2025.Abstract Cardiac amyloidosis due to transthyretin (ATTR) remains an underdiagnosed cause of cardiomyopathy. As awareness of the disease grows and referrals for ATTR increase, clinicians are likely to encounter more atypical forms of the condition in clinical practice.
Alexios S. Antonopoulos +4 more
wiley +1 more source
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
, 1995 Mark Curran +5 more
openalex +1 more source
Spectrum of Mutations in Long-QT Syndrome Genes [PDF]
, 2000 Igor Splawski +10 more
openalex +1 more source
Cardiac genetic counseling services: Exploring downstream revenue in a pediatric medical center
Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.Abstract Genetic counseling is an important component of pediatric cardiac care. The financial costs and benefits of this care have yet to be defined in the literature. Downstream revenue (DSR) analysis can be used to assess the economic impact of genetic counselors (GCs) at their institution beyond the initial patient contact.
Marianne Olson +7 more
wiley +1 more source
A Natural History Study of Timothy Syndrome
Orphanet Journal of Rare DiseasesBackground Timothy syndrome (OMIM #601005) is a rare disease caused by variants in the gene CACNA1C. Initially, Timothy syndrome was characterized by a cardiac presentation of long QT syndrome and syndactyly of the fingers and/or toes, all associated ...
Katherine W. Timothy +9 more
doaj +1 more source
Molecular Pharmacology of the Sodium Channel Mutation D1790G Linked to the Long-QT Syndrome [PDF]
, 2000 Hugues Abriel +4 more
openalex +1 more source
Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.Abstract The rising demand for genetic counseling has prompted the implementation of various innovative service delivery models, such as patient webinars, videos, chatbots, and the integration of genetic testing into mainstream healthcare. To ensure patients receive adequate information for informed decision‐making, validated measures to assess these ...
Susan Christian +8 more
wiley +1 more source
Journal of Pharmacological Sciences, 2011 A new in vivo proarrhythmia model of drug-induced long QT syndrome was developed using the Microminipig, an incredibly small minipig established by Fuji Micra Inc. (Shizuoka).
Atsushi Sugiyama +7 more
doaj