Results 111 to 120 of about 46,897 (193)

A Natural History Study of Timothy Syndrome

Orphanet Journal of Rare Diseases
Background 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, Rosemary Bauer, Kerry A. Larkin, Edward P. Walsh, Dominic J. Abrams, Cecilia Gonzalez Corcia, Alexandra Valsamakis, Geoffrey S. Pitt, Ivy E. Dick, Andy Golden   +9 more
doaj   +1 more source

Effectiveness and Limitations of β-Blocker Therapy in Congenital Long-QT Syndrome [PDF]

, 2000
Arthur J. Moss, Wojciech Zaręba, William J. Hall, Peter J. Schwartz, Richard S. Crampton, Jesaia Benhorin, G. Michael Vincent, Emanuela H. Locati, Silvia G. Priori, Carlo Napolitano, Aharon Medina, Li Zhang, Jennifer L. Robinson, Katherine W. Timothy, Jeffrey A. Towbin, Mark Andrews   +15 more
openalex   +1 more source

A structural basis for drug-induced long QT syndrome [PDF]

, 2000
John S. Mitcheson, Jun Chen, Monica Lin, Chris Culberson, Michael C. Sanguinetti   +4 more
openalex   +1 more source

Mutation of the Gene for I sK Associated With Both Jervell and Lange-Nielsen and Romano-Ward Forms of Long-QT Syndrome

, 1998
Priya Duggal, Mark R. Vesely, Duangrurdee Wattanasirichaigoon, Juan Villafañe, Vineet Kaushik, Alan H. Beggs   +5 more
openalex   +1 more source

NovelKCNQ1 mutations associated with recessive and dominant congenital long QT Syndromes: Evidence for variable hearing phenotype associated with R518X [PDF]

, 2000
Jian Wei, Frank A. Fish, Robert J. Myerburg, Dan M. Roden, Alfred L. George   +4 more
openalex   +1 more source

Arrhythmias in the congenital long QT syndrome: how often is torsade de pointes pause dependent? [PDF]

, 2000
Sami Viskin
openalex   +1 more source

A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome

, 1998
Hiroyuki Yamagishi, Michiko Furutani, Mitsuhiro Kamisago, Yoshiyuki Morikawa, Yoshifumi Kojima, Yoshiaki Hino, Yoshiyuki Furutani, Misa Kimura, Shin‐ichiro Imamura, Atsuyoshi Takao, Kazuo Momma, Rumiko Matsuoka   +11 more
openalex   +1 more source

Observations on the onset of Torsade de Pointes arrhythmias in the acquired long QT syndrome [PDF]

, 2000
Marc A. Vos
openalex   +1 more source

Effects of cardiac sympathetic innervation on regional wall motion abnormality in patients with long QT syndrome [PDF]

, 2000
Hiroshi Yamanari
openalex   +1 more source

The phenotype/genotype relation and the current status of genetic screening in hypertrophic cardiomyopathy, Marfan syndrome, and the long QT syndrome.

, 1997
John Burn, A. John Camm, Melanie J. Davies, Laura‐Maria Peltonen, Peter J. Schwartz, Hugh Watkins   +5 more
openalex   +1 more source