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34篇 您的检索式：作者名="Leturcq"

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	题名	作者	年代	出处	被引量
1	Dysferlin缺陷:肢带2B型肌营养不良与Miyoshi肌病的致病原因显示文摘目的对临床怀疑为常染色体隐性遗传性肌营养不良一家系进行分析 ,以明确肌病类型并寻找其致病基因的分子缺陷。方法用与 8种常染色体隐性遗传性肌营养不良基因连锁的短串联重复序列标记进行连锁分析 ,用与 5种肌营养不良相关的单克隆抗体作多重免疫印迹分析检测相应致病基因的编码产物 ;通过逆转录 - PCR扩增先证者致病基因的编码序列并测序 ,确定基因突变。结果家系连锁分析显示在 DYSF基因附近的 D2 S337位点的优势对数记分值为 1.85 ,提示致病基因与 D2 S337连锁 ;免疫印迹分析提示患者DYSF基因的编码产物 dysferlin缺陷 ;测序证明先证者DYSF基因的c DNA第 6 4 2 9位发生纯合性del G突变。结论综合研究结果和临床资料 ,这一家系中的先证者被诊断为 Miyoshi肌病 ,由DYSF基因纯合性缺失突变所导致。	孙顺昌樊绮诗吴华成 France Leturcq 张炳峰于文 Nathalie Deburgrave 刘明宋永建	2004	中华医学遗传学杂志2004，21，2：	7
2	LGMD2A:genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene显示文摘	SAENZA LETURCQ F COBOAM	2005	Brain2005，128，：	1
3	Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database:a model of nationwide knowledgebase显示文摘	Tuffery-Giraud S Béroud C Leturcq F		0，，06：	1
4	Counting Statistics of Single Electron Transport in a Quantum Dot显示文摘	GUSTAVSSON S LETURCQ R SIMOVIC B ET AL	2006	Phys Rev Lett2006，96，07：	1
5	Lipopolysaccharide activation of human endothelial and epithelial cells is mediated by lipopolysaccharide-binding protein and soluble CD14显示文摘	Pugin J Schurer-Vlaly CC Leturcq D	1993	Proc Natl Acad Sci U S A1993，90，7：	1
6	Prenatal diagnosis of recessive congenital methaemo globinaemia type Ⅱ : novel mutation in the NADH - Cytochrome b5 reductase gene leading to stop codon read - through显示文摘	Leroux A Leturcq F Deburgrave N	2005	Eur J Haematd2005，74，5：	1
7	Antibodies against CD14 protect primates from endotoxin-induced shock显示文摘	Leturcq DJ Moriarty AM Talbott G	1996	J Clin Invest1996，98，7：	1
8	Initial and long-term dissolution rates of aluminosilicate glasses enriched with Ti,Zr and Nd显示文摘	LETURCQ G BERGER G ADVOCCAT T	1999	Chem Geol1999，160，：	1
9	Titanate-based ceramics for separated long-lived radionuclides显示文摘	Catherine Fillet Thierry Advocat Florence Bart Gilles Leturcq Hélène Rabiller	2004	Comptes rendus - Chimie2004，，：	1
10	Comparative study of methods of measuring carrier lifetime in p-i-n device显示文摘	Derdouri M Leturcq P Munoz-Yague A	1980	IEEE Transactions on Electron Devices1980，27，11：	1
11	Lipopolysaccharide activation of human endothelial and epithelial cells is mediated by lipopolysaccharide-binding protein and soluble CD14显示文摘	Pugin J Schurer-Maly CC Leturcq D	1993	Proc Nati Acad Sci USA1993，90，7：	1
12	LGMD2A:genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene显示文摘	Sáenz A Leturcq F Cobo AM	2005	Brain2005，128，：	1
13	Antibodies against CD 14 protect primates from endotoxin-induced shock显示文摘	Leturcq DJ Moriarty AM Talbott G	1996	J Clin Invest1996，98，7：	1
14	In vivo characterization of the proteasome regulator PA28显示文摘	Ahn K Erlander M Leturcq D	1996	J Biol Chem1996，271，18：	1
15	Endomysial fibrosis in Duchenne muscular dystrophy: a marker of poor outcome associa- ted with macrophage alternative activation显示文摘	Desguerre I Mayer M Leturcq F	2009	J Neuropathol Exp Neurol2009，68，7：	1
16	Molecular bases of dystrophinopathies显示文摘	LETURCQ F KAPLAN J C	2005	J Soe Biol2005，199，：	1
17	Genotype- phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: A model of nationwide knowledgebase显示文摘	Tuffery-Giraud S lroud C Leturcq F	2009	Hum Mutat2009，30，：	1
18	Tunnel junctions in a III-V nanowire by surface engineering显示文摘	Salman Nadar Chloe Rolland Jean-Frangois Lampin Xavier Wallart Philippe Caroff Renaud Leturcq	2015	Nano Research2015，8，3：	1
19	Counting Statistics and Super-poissonian Noise in a Quantum Dot; Time-resolved Measurements of Electron Transport显示文摘	Gustavsson S Leturcq R Simovic B	2006	Phys Review B2006，74，19：	1
20	Characterization of protease -activated receptor- 2 immunoreactivity in normal human tissues显示文摘	D~Andrea MR Derian CK Leturcq D	1998	J Histochem Cytochem1998，46，2：	1

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