|1.||Antzelevitch, Charles: 7 articles (01/2015 - 05/2007)|
|2.||Ackerman, Michael J: 5 articles (10/2015 - 01/2006)|
|3.||Timothy, Katherine W: 5 articles (06/2013 - 10/2004)|
|4.||Tester, David J: 4 articles (10/2015 - 01/2006)|
|5.||Boczek, Nicole J: 4 articles (10/2015 - 06/2013)|
|6.||Yuan, Can: 4 articles (01/2014 - 03/2010)|
|7.||Cheng, Edward P: 4 articles (01/2014 - 03/2010)|
|8.||Santana, Luis F: 4 articles (01/2014 - 03/2010)|
|9.||Dolmetsch, Ricardo E: 4 articles (04/2013 - 12/2011)|
|10.||Yazawa, Masayuki: 4 articles (04/2013 - 12/2011)|
|1.||Autistic Disorder (Autism)
01/01/2012 - "A reversal of enhanced-sympathetic tone by VDI-enhancing CaN inhibitors could be beneficial for improving Timothy syndrome complications such as long-QT and autism."
11/01/2013 - "As a professor at California's Stanford University School of Medicine for the past ten years, Dolmetsch made his name using induced pluripotent stem (iPS) cells to study a rare form of autism known as Timothy syndrome. "
05/26/2015 - "Of particular interest are the spectrum of autism disorders, some of which are monogenic such as Timothy syndrome (TS); others are multigenic such as the microdeletion and microduplication syndromes of the 16p11.2 chromosomal locus. "
01/01/2015 - "Furthermore, rare mutation in CACNA1C is suggested to cause Timothy syndrome, a multisystem disorder including autism-associated phenotype. "
01/31/2012 - "Light-induced fusion of WT Ca(v)1.2 channels with Ca(v)1.2 channels carrying a gain-of-function mutation that causes arrhythmias and autism in humans with Timothy syndrome (Ca(v)1.2-TS) increased Ca(2+) currents, diastolic and systolic Ca(2+) levels, contractility and the frequency of arrhythmogenic Ca(2+) fluctuations in ventricular myocytes. "
03/01/2015 - "To examine the efficacy of preoperative electrocardiogram (EKG) screening for Timothy syndrome, a rare and fatal condition characterized by prolonged QT, in children referred for syndactyly release. "
11/01/2015 - "She has similar facial features to Timothy syndrome type 1 without syndactyly. "
11/01/2015 - "Timothy syndrome type 2 was originally reported to be associated with a more severe cardiac phenotype but without syndactyly. "
03/01/2015 - "To improve patient safety, some have advocated preoperative EKG testing for all children undergoing syndactyly release to rule out Timothy syndrome. "
01/01/2014 - "One atypical form of LQTS, Timothy syndrome (TS), is associated with syndactyly, immune deficiency, cognitive and neurological abnormalities as well as distinct cranio-facial abnormalities. "
|3.||Long QT Syndrome
12/01/2014 - "This study aimed to elucidate the frequency of CACNA1C mutations in patients with long QT syndrome (LQTS), except those with Timothy syndrome and investigate phenotypic variants. "
11/01/2015 - "Other mutations in CACNA1C are also reported with long QT syndrome with and without syndromic features overlapping that described in Timothy syndrome. "
11/01/2015 - "Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?"
01/01/2014 - "Mutations in CACNA1C that increase current through the CaV1.2 L-type Ca2+ channel underlie rare forms of long QT syndrome (LQTS), and Timothy syndrome (TS). "
01/01/2014 - "Cellular mechanisms of ventricular arrhythmias in a mouse model of Timothy syndrome (long QT syndrome 8)."
|4.||Cardiac Arrhythmias (Arrythmia)
03/01/2015 - "The phenotype of our patient and the previously described patient show an isolated arrhythmia disease with no other organ manifestations of classical Timothy syndrome."
12/01/2014 - "Even without typical phenotypes of Timothy syndrome, CACNA1C mutations may cause QT prolongation and/or fatal arrhythmia attacks."
12/01/2007 - "An example is Timothy Syndrome (TS), a multisystem disorder that includes severe cardiac arrhythmias. "
05/01/2007 - "Timothy syndrome is a multisystem disorder associated with QT interval prolongation and ventricular cardiac arrhythmias. "
04/01/2013 - "The identification of a gain-of-function mutation in CACNA1C as the cause of Timothy Syndrome (TS), a rare disorder characterized by cardiac arrhythmias and syndactyly, highlighted unexpected roles for the L-type voltage-gated Ca2+ channel CaV1.2 in nonexcitable cells. "
01/01/2015 - "In this review, we discuss the current state of knowledge regarding these mutations present in Timothy Syndrome, Long and Short QT Syndromes, Brugada Syndrome and Early Repolarization Syndrome. "
10/01/2012 - "Mutations in these genes cause various phenotypes, including Timothy syndrome, Brugada syndrome, and early repolarization syndrome. "
12/01/2010 - "L-type calcium channel (LTCC) mutations have been associated with Brugada syndrome (BrS), short QT (SQT) syndrome, and Timothy syndrome (LQT8). "
01/01/2006 - "Within the field of molecular cardiac electrophysiology, the previous decade of research elucidated the fundamental genetic substrate underlying many arrhythmogenic disorders such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), Andersen-Tawil syndrome, Brugada Syndrome, and Timothy syndrome. "
|1.||Calcium Channels (Calcium Channel)
|2.||L-Type Calcium Channels (Dihydropyridine Receptor)
|3.||Polymorphic catecholergic ventricular tachycardia
|6.||Andersen Tawil syndrome
|7.||Lujan Fryns syndrome
|8.||Growth mental deficiency syndrome of Myhre
|10.||congenital stationary Night blindness