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| 1 | Restrictive Cardiomyopathy Resulting from a Troponin Ⅰ Type 3 Mutation in a Chinese Family显示文摘Objective To identify the pathogenic variant responsible for restrictive cardiomyopathy(RCM) in a Chinese family.Methods Next generation sequencing was used for detecting the mutation and results verified by sequencing.We used restriction enzyme digestion to test the mutation in the family members and 200 unrelated normal subjects without any cardiac inherited diseases when the mutation was identified.Results Five individuals died from cardiac diseases,two of whom suffered from sudden cardiac death.Two individuals have suffered from chronic cardiac disorders.Mutation analysis revealed a novel missense mutation in exon 7 of troponin Ⅰ type 3(TNNI3),resulting in substitution of serine(S) with proline(P) at amino acid position 150,which cosegregated with the disease in the family,which is predicted to be probably damaging using PolyPhen-2.The mutation was not detected in the 200 unrelated subjects we tested.Conclusion Using next generation sequencing,which has very recently been shown to be successful in identifying novel causative mutations of rare Mendelian disorders,we found a novel mutation of TNNI3 in a Chinese family with RCM. | Yan-ping Ruan Chao-xia Lu Xiao-yi Zhao Rui-juan Liang Hui Lian Michael Routledge Wei Wu Xue Zhang Zhong-jie Fan | 2016 | Chinese Medical Sciences Journal2016，31，1： | 3 |
| 2 | Synthesis of 2-oxindole derivatives via the intramolecular Heck reaction on solid support显示文摘 | Arumugam V Routledge A Abell C | 1997 | Tetrahedron Lett1997，38，： | 1 |
| 3 | Influence of access site selection on PCI-related adverse events in patients with STEMI:meta-analysis of randomised controlled trials显示文摘 | Mamas MA Ratib K Routledge H | 2012 | Heart2012，98，4： | 1 |
| 4 | Retinal pigment epithelial cell DNA is damaged by exposure to benzo pyrene, a constituent of cigarette smoke显示文摘 | PATTON W P ROUTLEDGE M N JONES G D | 2002 | Exp Eye Res2002，74，4： | 1 |
| 5 | Nondipping blood pressure patterns among individuals with essential hypertension : A review of the literature 显示文摘 | Routledge F McFetridge - Durdle J | 2007 | EurJ Cardiovasc Nurs2007，6，1： | 1 |
| 6 | Evaluation of the LENT-SOMA scales for the prospective assessment of treatment morbidity in cervical carcinoma 显示文摘 | Routledge JA Burns MP Swindell R | 2003 | Int J Radiat Oncol Biol Phys2003，56，2： | 1 |
| 7 | Structural Features of Alkylphenolic Chemicals Associated with Estrogenic Activity显示文摘 | Edwin J Routledge John P Sumpter | 1997 | The American Society for Biochemistry and Molecular Biology1997，272，6： | 1 |
| 8 | Influence of arterial access site selection on outcomes in primary percutaneous coronary intervention: are the results of randomized trials achievable in clinical practice?显示文摘 | Mamas MA Ratib K Routledge H | 2013 | JACC Cardiovasc Interv2013，6，7： | 1 |
| 9 | 显示文摘 | Armitage W J | 2003 | Cryobiology2003，46，3： | 1 |
| 10 | An Exploratory Study of The Company Reorganisation Decision in Voluntary Administration 显示文摘 | Routledge J Gadenne D | 2004 | Pacific Accounting Review2004，，16： | 1 |
| 11 | Is limited pulmonary resection equivalent to lobectomy for surgical management of stage I non-small-cell lung cancer?显示文摘 | De Zoysa MK Hamed D Routledge T | 2012 | Interact Cardiovasc Thorac Surg2012，14，： | 1 |
| 12 | Three-year clinical outcome of percutaneous treatment of bifurcation lesions in multivessel coronary artery disease with the sirolimus-elutiag stem: insights from the Arterial Revaseularisation Therapies Study, partⅡ (ARTS 1] ) 显示文摘 | Routledge HC Lefevre T Colombo A | 2009 | Eurolntervention2009，5，2： | 1 |
| 13 | Adjusting to death: the effects of mortality salience and self-esteem on psychological well-being, growth motivation, and maladaptive behavior 显示文摘 | Routledge C Ostafin B Juhl J | 2010 | J Pers Soc Psychol2010，99，6： | 1 |
| 14 | Adverse drug reactions in elderly patients 显示文摘 | Routledge PA O'Mahony MS Woodhouse KW | 2004 | British Journal of clinical Pharmacology2004，57，2： | 1 |
| 15 | Bertrand competition with costuncertainty显示文摘 | Routledge R R | 2010 | Economics Letters2010，107，3： | 1 |
| 16 | Structural Fea- tures of Alkylphenolic Chemicals Associated with Es- trogenic Activity显示文摘 | ROUTLEDGE E J SUMPTER J P | 1997 | Journal of Biological Chemistry1997，272，6： | 1 |
| 17 | Improve- ments in heart rate variability with exercise therapy 显示文摘 | Routledge FS Campbell TS McFetridge-Durdle JA | 2010 | Can J Cardiol2010，26，6： | 1 |
| 18 | Spontaneous retromammary haemorrhage during warfarin therapy显示文摘 | Routledge PA Harris W Mathew S | 1998 | Postgrad Med J1998，74，872： | 1 |
| 19 | Equilibrium forward curves for commodities 显示文摘 | Routledge B R Seppi D J Spatt C S | 1999 | Journal of Finance1999，，55： | 1 |
| 20 | DNA methylation of GSTP1 as biomarker in diagnosis of prostate cancer显示文摘 | Hopkins TG Burns PA Routledge MN | 2007 | Urology2007，69，1： | 1 |
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