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| 1 | Genetic testing in congenital heart disease:A clinical approach显示文摘Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel. | Marie A Chaix Gregor Andelfinger Paul Khairy | 2016 | World Journal of Cardiology2016，8，2： | 8 |
| 2 | 儿童原发性限制型心肌病三例的临床特征及遗传分析显示文摘目的研究3例儿童原发性限制型心肌病( restrictive cardiomyopathy, RCM)的临床特征及心肌病理改变,并进行心肌肌节蛋白基因突变分析,以期发现遗传致病基础。方法采集和分析3例RCM患儿及其父母的临床资料。同时选择100名健康儿童作为正常对照。病例1和病例2接受心肌活检,标本行常规组织学和电镜检查。聚合酶链式反应(PCR)扩增RCM患儿肌钙蛋白I、肌钙蛋白T、β肌球蛋白重链、肌动蛋白基因编码外显子及附近上下游序列,直接双向测序并进行分析。如发现突变,则进一步检测该突变在患儿父母及正常对照儿童中的分布情况。结果3例患儿病情呈进行性加重。病例1合并小型膜周部室间隔缺损,病例2合并室间隔中下段轻度肥厚。组织学检查提示病例1存在广泛的心肌细胞排列紊乱和轻度纤维化,电镜显示肌节数量减少,线粒体显著增大变形;病例2心肌细胞轻度肥厚和间质纤维化,电镜检查显示z线排列紊乱,间距不规则。遗传分析分别在病例1和病例3中发现了肌钙蛋白I基因R204H、R192H杂合突变,在病例2中发现了肌钙蛋白T基因100—101delNE杂合突变,所有突变所在蛋白序列均高度保守。所有突变只出现在患儿,而父母及100名正常对照儿童中均未检测到相同突变。结论3例RCM患儿确诊后病情均进展迅速。3例患儿进行遗传分析均发现了致病突变,其中2个为肌钙蛋白I基因突变,1个为肌钙蛋白T基因突变。研究结果有助于加深对儿童原发性RCM发病机制的认识。 | 杨世伟 陈彦 李军 殷杰 秦玉明 Gregor Andelfinger 汪道武 曹克将 | 2013 | 中华心血管病杂志2013，41，4： | 6 |
| 3 | Severe left ventrieular dysfunction in infants with ventrieular pre-excitation 显示文摘 | Cadfin-Tourigny J Fournier A Andelfinger G | 2008 | Heart Rhythm2008，5，9： | 1 |
| 4 | Bicuspid aortic valve is herilable显示文摘 | Cripe L Andelfinger G Martin LJ | 2004 | J Am Coll Cardiol2004，44，1： | 1 |
| 5 | KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes显示文摘 | Andelfinger G Tapper AR Welch RC | 2002 | Am J Hum Genet2002，71，3： | 1 |
| 6 | Bicuspid aortic valve is heritable显示文摘 | Linda Cripe Gregor Andelfinger Lisa J. Martin Kerry Shooner D.Woodrow Benson | 2004 | Journal of the American College of Cardiology2004，，： | 1 |
| 7 | Loss of Gata5in mice leads to bicuspid aortic valve 显示文摘 | LAFOREST B ANDELFINGER G NEMER M | 2011 | J Clin Invest2011，121，7： | 1 |
| 8 | KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes显示文摘 | Andelfinger G Tapper AR Welch RC | | 0，，03： | 1 |
| 9 | EAS-elements for two- dimensional, three-dimensional, plate and shell structures and their equivalence to HR-elements 显示文摘 | Andelfinger U Ramm E | 1993 | International Journal for Numerical Methods in Engineering1993，36，： | 1 |
| 10 | Loss of gata5 in mice leads to bicuspid aortic valve 显示文摘 | LAFOREST B ANDELFINGER G NEMER M | 2011 | Journal of Clinical Investigation2011，121，7： | 1 |
| 11 | Prenatal head growth and white matter injury in hypoplastie left heart syndrome显示文摘 | Hinton RB Andelfinger G Sekar P | 2008 | Pediatr Res2008，64，4： | 1 |
| 12 | KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes显示文摘 | Gregor Andelfinger Andrew R. Tapper Richard C. Welch Carlos G. Vanoye Alfred L. George D. Woodrow Benson | 2002 | The American Journal of Human Genetics2002，，： | 1 |
| 13 | Easelements for two dimensional,three dimensional,plate and shell structures and their equivalence to HR elements显示文摘 | ANDELFINGER U RAMM E | 1993 | International Journal for Numerical Methods in Engineering1993，36，： | 1 |
| 14 | EAS-elements for two-dimensional, three-dimensional, plate and shell structures and their equivalence to HR-elements 显示文摘 | Andelfinger U Ramm E | 1993 | Int J Num Meth Eng1993，36，： | 1 |
| 15 | Genetic factors in congenital heart malformation 显示文摘 | Andelfinger G | 2008 | Clin Genet2008，73，： | 1 |
| 16 | The Krtippel-like transcription factor KLF13 is a novel regu- lator of heart development 显示文摘 | Lavall6e G Andelfinger G Nadeau M | 2006 | EMBO J2006，25，21： | 1 |
| 17 | Prenatal head growth and white matter injury in hypoplastie left heart syndrome 显示文摘 | Hinton RB Andelfinger G Sekar P | 2008 | Pediatr Res2008，64，4： | 1 |
| 18 | Prenatal head growth and white matter injury in hypoplastic left heart syndrome 显示文摘 | Hinton RB Andelfinger G Sekar P | 2008 | Pediatr Res2008，64，4： | 1 |
| 19 | Eas-elemants for two-dimensional, three-dimensional, plate and shell structures and their equivalence to HR-elernents显示文摘 | Andelfinger U Ramm E | 1993 | Int J Nurner Meth Engng1993，36，： | 1 |
| 20 | EAS elements for two dimensional,three dimensional, plate and shell structures and their equivalence to HR elements 显示文摘 | Andelfinger U Ramm E | 1993 | International Journal for Numerical Methods in Engineering1993，36，： | 1 |
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