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| 1 | 相同基因型而不同表现型的PRKAG2基因突变一家系报道显示文摘目的 位于7号染色体上的腺苷一磷酸激活的蛋白激酶γ^2调节亚单位基因(PRKAG2基因)调节代谢通路。报道一个具有PRKAG2基因突变而临床表现型不同的家系。方法 使用DNA直接测序法,对一个具有多种形式心律失常的患者家系(13例患者)进行PRKAG2外显子及外显子和内含子拼接部位序列筛查寻找基因突变。结果 心电图显示患者家系存在窦性心动过缓、短PR间期、完全性右束支传导阻滞、房室传导阻滞和房性心动过速。其中3例患者在年轻时发生猝死,没有1例有预激综合征(预激)表现,只有1例有心肌肥厚。DNA测序结果显示,该家系所有患者皆有一个PRKAG2错义突变(R302Q)。这个基因突变以前曾描述并与预激和左室肥厚有关。结论 PRKAG2基因突变不仅导致预激而且与多种临床表现型有关。完全性右束支传导阻滞、窦性心动过缓、短PR间期应该高度怀疑有PRKAG2基因突变的可能。 | 洪葵 Antonio Oliva 程晓曙 Pedro Brugada Joseph Brugada Eduardo-back Sternick Ramon Brugada | 2007 | 中华心血管病杂志2007，35，6： | 9 |
| 2 | Fasciculoventricular pathways:clinical and electrophysiologic characteristics of a variant of preexcitation显示文摘 | Sternick EB Gerken LM Vrandecic MO | 2003 | J Cardiovasc Electrophysiol2003，14，： | 1 |
| 3 | Short atrioventricular Mahaim fibers:observations on their clinical,electrocardiographic,and electrophysiologic profile显示文摘 | Sternick EB Fagundes ML Cruz FE | 2005 | J Cardiovasc Electrophysiol2005，16，： | 1 |
| 4 | Tumor dose specification of I-125 seed implants显示文摘 | Wu A Zwicker D Sternick ES | 1985 | Med Phys1985，12，： | 1 |
| 5 | Dual conduction in a Mahaim fiber显示文摘 | Sternick EB Sosa EA Scanavacca MI | 2004 | J Cardiovasc Electrophysiol2004，15，： | 1 |
| 6 | Electrocardiogram during tachycardia in patients with anterograde conduction over a Mahaim fiber:old criteria revisited显示文摘 | Sternick EB Cruz FE Timmermans C | 2004 | Heart Rhythm2004，1，： | 1 |
| 7 | The electrocardiogram during sinus rhythm and tachycardia in patients with Mahaim fibers:the importance of an 'rS' pattern in lead Ⅲ显示文摘 | Sternick EB Timmermans C Sosa E | 2004 | J Am Coll Cardiol2004，44，： | 1 |
| 8 | Automaticity in Mahaim fibers显示文摘 | Sternick EB Sosa EA Timmermans C | 2004 | J Cardiovasc Electrophysiol2004，15，： | 1 |
| 9 | Short atrioventricular Ma- haim fibers : observations on their clinical, electrocardiographic, and electrophysiologic profile显示文摘 | Sternick EB Fagundes ML Cruz FE | 2005 | J Cardiovasc Electrophysiol2005，16，2： | 1 |
| 10 | Epilepsy or synco- pe? An analysis of 55 consecutive patients with loss of con- sciousness, convulsions, fails, and no EEG abnormalities 显示文摘 | Rodrigues TR Sternick EB Moreira MC | 2010 | PACE2010，，33： | 1 |
| 11 | Characterization of the distal insertion of atriofascicular accessory pathways and mechanisms of QRS patterns in atriofascicular antidromic tachycardia显示文摘 | GANDHAVADI M STERNICK E B JACKMAN W M | 2013 | Heart Rhythm2013，10，： | 1 |
| 12 | Reversible cardiomyopathy provoked by focal ventricular arrhythmia originating from the base of the posterior papillary muscle显示文摘 | Eduardo Back Sternick Frederico Correa Ricardo Negri Ricardo Baeta Scarpelli Luiz Márcio Gerken | 2009 | Journal of Interventional Cardiac Electrophysiology2009，，1： | 1 |
| 13 | Cooling with near- freezing saline improves efficacy of cool-tip radiofrequency catheter ablation显示文摘 | Sternick EB Gerken LM Scarpelli RB | 2010 | Heart Rhythm2010，7，7： | 1 |
| 14 | Accessory atrioven- tricular pathways refractory to catheter ablation:Role of percuta- neous epicardial approach 显示文摘 | Scanavacca MI Sternick EB Pisani C | 2015 | Circ Arrhythm Electrophysiol2015，8，1： | 1 |
| 15 | Short atrioventricular Mahaim fibers : observations on their clinical, electrocardiographic, and electrophysiologic profile 显示文摘 | Sternick EB Fagundes ML Cruz FE | 2005 | J Cardiovasc Electrophysiol2005，16，2： | 1 |
| 16 | Familial pseudo- Wolff-Parkinson-White syndrome显示文摘 | Sternick EB Oliva A Magalhaes LP | 2006 | J Cardiovasc Electroph- ysiol2006，17，7： | 1 |
| 17 | Epilepsy or syncope an analysis of 55 consecutive patients with loss of consciousness, convulsions, falls, and no EEG abnor- malities 显示文摘 | Rodrigues TR Sternick EB Moreira MC | 2010 | PACE2010，，33： | 1 |
| 18 | Reversibe cardiomyopathy provoked by focal ventricular arrhythmia originating from the base of the posterior muscle显示文摘 | Sternick EB Correa F Negri R | 2009 | J Interv Card Electrophysiol2009，25，： | 1 |
| 19 | The effect of gantry spacing res- olution on plan quality in a single modulated arc optimization 显示文摘 | Mihaylov IB Curran B Sternick E | 2011 | J of Appl Clin Med Phys2011，12，4： | 1 |
| 20 | Ma- haim fiber: an atriofascieular or a long atrioventricular pathway显示文摘 | Sternick EB Timmermans C Rodriguez LM | 2004 | Heart Rhythm2004，1，6： | 1 |
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