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| 1 | 线粒体融合蛋白2基因突变致夏科-马里-图斯病2A2亚型的表型分析显示文摘目的 探讨夏科-马里-图斯病2型(CMT2)患者线粒体融合蛋白(MFN2)基因突变特征及临床变异性.方法 收集临床拟诊的8个常染色体显性遗传CMT2家系和24个散发CMT2病例,采用PCR技术和直接测序方法进行MFN2基因突变检测,详细分析阳性病例的临床表型.结果 在32例拟诊CMT2病例中共检测出4种MFN2基因的错义突变,检出率为12.5%.其中c.281G>A(R94Q)和c.2240 T>C(M747T)分别见于2个常染色体显性遗传家系,同一家系内部存在表型差异;c.1090 C>T(R364W)和c.2198 T>C(L733P)分别见于2例散发病例,后者为首次报道的新突变,除四肢远端萎缩无力外,前者伴视神经萎缩,后者伴皮肤过度角化.结论 MFN2基因突变为中国人群CMT2型常见病因,通过分析CMT2A2患者的临床表型,提示该组疾病具有高度的临床变异性. | 段晓慧 顾卫红 Christopher J.Klein 郝莹 王国相 汪仁斌 樊东升 | 2014 | 中华神经科杂志2014，47，2： | 2 |
| 2 | Current of Injury Predicts Acute Performance of Catheter‐Delivered Active Fixation Pacing Leads显示文摘 | DAMIAN P.REDFEARN LORNE J.GULA ANDREW D.KRAHN ALLAN C.SKANES GEORGE J.KLEIN RAYMONDYEE | 2007 | Pacing and Clinical Electrophysiology2007，，12： | 1 |
| 3 | The influence of mobility among high-risk populations on HIV transmission in Western Kenya显示文摘Western Kenya suffers a highly endemic and also very heterogeneous epidemic of human immunodeficiency virus(HIV).Although female sex workers(FSW)and their male clients are known to be at high risk for HIV,HIV prevalence across regions inWestern Kenya is not strongly correlated with the fraction of women engaged in commercial sex.An agentbased network model of HIV transmission,geographically stratified at the county level,was fit to the HIV epidemic,scale-up of interventions,and populations of FSW in Western Kenya under two assumptions about the potential mobility of FSW clients.In the first,all clients were assumed to be resident in the same geographies as their interactions with FSW.In the second,some clients were considered non-resident and engaged only in interactions with FSW,but not in longer-term non-FSW partnerships in these geographies.Under both assumptions,the model successfully reconciled disparate geographic patterns of FSW and HIV prevalence.Transmission patterns in the model suggest a greater role for FSW in local transmission when clients were resident to the counties,with 30.0%of local HIV transmissions attributable to current and former FSW and clients,compared to 21.9%when mobility of clients was included.Nonetheless,the overall epidemic drivers remained similar,with risky behavior in the general population dominating transmission in highprevalence counties.Our modeling suggests that co-location of high-risk populations and generalized epidemics can further amplify the spread of HIV,but that large numbers of formal FSW and clients are not required to observe or mechanistically explain high HIV prevalence in the general population. | Anna Bershteyn Kennedy K.Mutai Adam N.Akullian Daniel J.Klein Britta L.Jewell Samuel M.Mwalili | 2018 | Infectious Disease Modelling2018，3，1： | 1 |
| 4 | Accuracy ofThree-Dimensional Linear and Angular Estimates Obtained Withthe Ariel performance Analysis System显示文摘 | Pebekioe J.Klein Edd PT James J.DeHaven Phd | 1995 | 运动医学1995，，02： | 1 |
| 5 | Interim analysis of the effects of exenatide treatment on A1C, weight and cardiovascular risk factors over 82 weeks in 314 overweight patients with type 2 diabetes显示文摘 | L.Blonde E. J.Klein J.Han B.Zhang S. M.Mac T. H.Poon K. L.Taylor M. E.Trautmann D. D.Kim D. M.Kendall | 2006 | Diabetes Obesity and Metabolism2006，，4： | 1 |
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