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94篇 您的检索式：作者名="Finnie G"

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	题名	作者	年代	出处	被引量
1	Genotype phenotype correlation in Wilson's disease within families-a report on four south Indian families显示文摘AIM: To study the genotype phenotype correlation in Wilson's disease (WD) patients within families. METHODS: We report four unrelated families from South India with nine members affected with WD. Phenotype was classified as per international consensus phenotypic classifi cation of WD. DNA was extracted from peripheral blood and 21 exons of ATP7B gene and flanking introns were amplified by polymerase chain reaction (PCR). The PCR products were screened for mutations and the aberrant products noted on screening were sequenced. RESULTS: Four separate ATP7B mutations were found in the four families. ATP7B mutations were identical amongst affected members within each family. Three families had homozygous mutations of ATP7B gene while one family had compound heterozygous mutation, of which only one mutation was identifi ed. We noted concordance between ATP7B gene mutation and Wilson's disease phenotype amongst members within each family. The age of onset of symptoms or of detection of asymptomatic disease, baseline serum ceruloplasmin and baseline urinary copper levels were also similar in affected members of each family. Minor differences in phenotype and baseline serum ceruloplasmin level were noted in one family.CONCLUSION: We report concordance between ATP7B mutation and WD phenotype within each family with > 1 member affected with WD. Homozygous ATP7B mutation was present in 3 of the 4 families studied. Our report supports allelic dominance as a determinant of WD phenotype. However, in one family with compound heterozygous mutation, there was a similar WD phenotype which suggests that there may be other factors determining the phenotype.	S Santhosh RV Shaji CE Eapen V Jayanthi S Malathi P Finny N Thomas M Chandy G Kurian GM Chandy	2008	World Journal of Gastroenterology2008，14，29：	3
2	The influence of impingement angle on the erosion of ductile metals by angular abrasive particles显示文摘	FINNIE I STEVICK G R RIDGELY J R	1992	Wear1992，152，1：	1
3	Similarity and Metrics in Case- Based Reasoning显示文摘	FINNIE G SUN Z	2002	International Journal of Intelli- gent Systems2002，17，3：	1
4	R^5 Model for Case-based Reasoning显示文摘	Finnie G Sun Zhaohao	2003	Knowledge Based Systems2003，16，：	1
5	An empirical methodology for developing stock market trading systems using artificial neural networks显示文摘	Vanstone B Finnie G	2009	Expert Systems with Applications2009，36，3：	1
6	An empirical methodology for developing stockmarket trading systems using artificial neural networks显示文摘	Vanstone B Finnie G	2009	Expert Systems with Applications2009，36，3：	1
7	R5 model for case-based reasorting显示文摘	FINNIE G SUN Zhaohao	2003	Knowledge-Based Systems2003，，16：	1
8	Prognosis after anastomotic leakage in color- ectal surgery显示文摘	Branagan G Finnis D	2005	Dis Colon Rectum2005，48，5：	1
9	Prognosis 'after anastomotic leakage in colorectal surgery显示文摘	Branagan G Finnis D Wessex Colorectal Cancer Audil ~'orking Group	2005	Dis Colon Reetum2005，48，5：	1
10	R5 model for case-based reasoning显示文摘	Finnie G Sun Z H	2003	Knowledge-Based System2003，16，1：	1
11	A Logical Foundation for the Case-Based Reasoning Cycle 显示文摘	Finnie G Sun Z	2003	International Journal of Intelligent Systems2003，18，4：	1
12	Analytic bond-order potentials for multicomponent systems显示文摘	FINNIS M W NGUYEN-MANH D	2004	Materials Science and Engineering A-Structural Materials Properties Microstructures and Processing2004，365，12：	1
13	A Comparison of Software Effort Estimation Techniques Using Function Points with Neural Networks, Case Based Reasoning and Regression Models显示文摘	Finnie G R Wittig G E Desharnais J-M	1997	Journal of Systems Software1997，39，3：	1
14	Prognosis after anastomotie leakage in colorectal surgery 显示文摘	Branagan G Finnis D Wessex Coloreetal Cancer Audit Working Group	2005	Dis Colon Rectum2005，48，5：	1
15	Using Artificial Neural Networks and Function Points to Estimate 4GL Software Development Effort显示文摘	G E Wittig G R Finnie	1994	Australian Journal of Information Systems1994，1，2：	1
16	Simple N-bodyPotentials for Noble Metals and Nikel 显示文摘	Tichy G Vitek V Finnis M W	1987	PhilosophicalMagazine A1987，56，：	1
17	R5 model for case-based reasoning显示文摘	Finnie G Sun Z	2003	Knowledge-Based Systems2003，，16：	1
18	Case base building with similarity relations 显示文摘	SUN Z H FINNIE G WEBER K	2004	Information Sciences2004，53，165：	1
19	Simple N-body potentials for the noble metals and nickel显示文摘	Ackland G J Tiehy G Vitek V Finnis M W	1987	Philosophic Magazine A1987，56，：	1
20	Prognosis after anastomotic leakage in colorectal surgery 显示文摘	Branagan G Finnis D	2005	Dis Colon Rectum2005，48，5：	1

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