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146篇 您的检索式：作者名="FRIEDL W"

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	题名	作者	年代	出处	被引量
1	家族性腺瘤样息肉病中APC基因的胚系突变分析(英文)显示文摘目的探索有效的突变检测技术,系统分析家族性腺瘤样息肉病(familialadenomatouspolyposis,FAP)相关基因结肠腺瘤病(adenomatouspolyposiscoli,APC)基因的胚系突变,及其与疾病表型的关系。方法从22例临床确诊的FAP患者,外周静脉血中提取基因组DNA。变性高效液相色谱、蛋白截短检测、测序技术结合应用进行全基因分析。根据患者临床资料,进行基因型表型分析。结果22例FAP患者中13例检出APC基因胚系突变,均为无义或移码突变。基因型-表型关系的初步分析表明,在基因5′端或3′端发生突变的患者临床症状较轻,在基因中段发生突变的患者临床症状典型或严重。结论本研究中所采用的技术体系可敏感、高效地检出APC基因突变,APC基因的突变型与FAP患者的临床表型存在关联,所采用的技术体系适用于FAP症状出现前的基因诊断。	刘晓蓉单祥年 Friedl W Uhlhaas S Propping P 王亚平	2005	中华医学遗传学杂志2005，22，3：	12
2	Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining显示文摘	MANGOLD E PAGENSTECHER C FRIEDL W	2005	Pathol2005，207，4：	1
3	Associ-ation of DNA Polymorphism at the Apolipoprotein B Gene Locus with Coronary Heart Disease and Serum Very Low Density Lipoprotein Levels显示文摘	PAULWEBER B FRIEDL W KREMPLER F	1990	Arteriosclerosis1990，10，1：	1
4	Indication,management and results of surgical therapy for Pathological fractures in patients with bone metastases显示文摘	Friedl W	1990	Eur J Surg Oncol1990，16，4：	1
5	Relationship between natriuretic peptides and hemodynamics in patients with heart failure at rest and after ergometric exercise显示文摘	Friedl W Mair J Thomas S	1999	Clin Chim Acta1999，281，12：	1
6	Microsatellite instability analysis:a multicenter study for reliability and quality control显示文摘	Bocker T Diermann J Friedl W	1997	Cancer Res1997，57，21：	1
7	Sources of variation in radiometric sur- face temperature over a tallgrass prairie显示文摘	Friedl M A Davis F W	1994	Remote Sensing of Environment1994，48，1：	1
8	Feasibility of auditory cortical stimulation for the treatment of tinnitus 显示文摘	Friedl DR Gaggl W Runge-Samuelson C	2007	Otology Neurotology2007，28，8：	1
9	Experimental examination for optimized stabilisation of trochantefic femur fractures,intra- or extramedullary implant localization and influence of femur neck component profile on cut-out risk 显示文摘	Friedl W Clausen J	2001	Chirurg2001，72，11：	1
10	Natriuretic peptides in assessment of left ventricular dysfunction 显示文摘	Mair J Friedl W Thomas S	1999	Scand J Clin Lab Invest Suppl1999，230，：	1
11	Loss of the PLA2G2A gene in a sporadic colorectal tumor of a patient with a PLA2G2A germline mutation and absence of PLA2G2A germline alterations in patients with FAP显示文摘	Nimmrich I Friedl W Kruse R		0，，：	1
12	Microsatellite instability analysis: a multicenter study for reliability and quality control显示文摘	Diermann J Friedl W	1997	Cancer Res1997，57，21：	1
13	Sources of variation in radiometric surface temperature over a tall grass prairie显示文摘	Davis F W	1994	Remote Sensing of Environment1994，48，：	1
14	Natriuretic peptides in assessment of left ventricular dysfunction显示文摘	Mair'J Friedl W Thomas	1999	Scand J Clin Lab Invest Suppl1999，230，：	1
15	Natriuretic peptides in assessment of left-Ventricular dysfunction显示文摘	Mari J Friedl W Thomas S Puschendorf B	1999	Scand J Clin Lab Invest suppl1999，2，30：	1
16	Natriuretic peptides in assessment of left ventricular dysfunction显示文摘	Friedl W Thomas S	1999	Scand J Clin Lab Invest1999，230，：	1
17	Hypervariability in a minisatellite 3 'of the apolipoprotein B gene in patients with coronary heart disease compared with normal controls显示文摘	Friedl W Ludwig E H Paulweber B	1990	J Lipid Res1990，31，：	1
18	Natfiutetic peptldes in assessment of Left- Ventricular dysfunction 显示文摘	Mair J Friedl W Thomas S	1999	Scand din Invest1999，，：	1
19	Bone cement implantation syndrome:A prospective randomized trial for use of antihistamine blockade显示文摘	Lamade WR Friedl W Schmid B	1995	Arch Orthop Trauma Surg1995，114，6：	1
20	Hereditary nonpolyposis eolorectal cancer : frequent occurrence of large genomie deletions in MSH2 and MLH-1 genes显示文摘	Wang Y Friedl W Imnberti C	2003	Int J Cancer2003，130，5：	1

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