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47篇 您的检索式：作者名="Finnie P"

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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	Porous silicon-based biosensor forpathogen detection显示文摘	Finny P M Evangelyn C A	2005	BiosensorsandBioelectronics2005，20，8：	1
3	Excited excitonic states in Single- Walled Carbon Nanotubes 显示文摘	Lefebvre J Finnie P	2008	Nano Letters2008，8，7：	1
4	Porous silicon-based biosensor for pathogen detection显示文摘	Finny P M Evangelyn C A	2005	Biosensors and Bioelectronics2005，20，8：	1
5	Automatic Code Genera- tion from Design Patterns 显示文摘	Burginsky F M Finnie P Yu	1996	IBM System Journal1996，35，2：	1
6	Use of the temporary i mersion bioreactor system (RITA) for production of commercial Eucalyptus clones in Mondi Forests (SA)显示文摘	MCALISTER B FINNIE J WATT M P	2005	Plant Cell Tissue Organ Culture2005，，81：	1
7	Proteome analysis of grain filling and seed maturation in barley显示文摘	Finnie C Melchior S Roepstorff P	2002	Plant Physiology2002，129，：	1
8	, Effect of long-term mobile c ommunication microwave exposure on vascular permeability in mouse brain 显示文摘	Finnie J W Blumbergs P C Manavis J	2002	Pathology2002，34，4：	1
9	Automatic Code Generation from Design Patterns显示文摘	Burginsky F Finnie M Yu P	1996	IBM Systems Journal1996，35，2：	1
10	Spudcan-footprint interaction during jack-up workovers显示文摘	Stewart D P Finnie I	2001	Evolutionary Ecology Research2001，3，1：	1
11	Sexual harassment in nursing显示文摘	Bender M P Finnis S J	1997	J-Adv-Nurs1997，25，1：	1
12	Animal models-traumatic brain injury显示文摘	FINNIE J W BLUMBERGS P C	2002	Vet Pathol2002，39，：	1
13	Losses due to the potato spindle tuber virus 显示文摘	Sing R P Finnie R E Bagnall R H	1971	American Potato Journal1971，48，48：	1
14	Use of the tempo- rary immersion bioreactor system (RITA) for production of commercial Eucalyptus clones in Mondi Forests (SA) 显示文摘	Mc Alister B Finnie J Watt M P	2005	Plant Cell Tissue Organ Culture2005，81，：	1
15	Longitudinal and transverse mixing in rotary kilns: A discrete element method approach 显示文摘	FINNIE G J KRUYT N P YE M	2005	Chemical Engineering Science2005，60，15：	1
16	Traumatic brain injury显示文摘	Finnie J W Blumbergs P C	2002	Vet Pathol2002，39，6：	1
17	Neuronal damage produced in rat brains by Clostridium perfringens type D epsilon toxin显示文摘	Finnie J W Blumbergs P C Manavis J	1999	J Comp Pathol1999，120，：	1
18	Feasibility of identification and monitoring of arsenic species in soil and sediments samples by coupled high-performance liquid chromatography-inductively coupled Plasma spectrometry 显示文摘	THOMAS P FINNIE J K WILLIAMS J G	1997	J Anal At Spectrum1997，12，：	1
19	Biases in the measurement of arterial pressure显示文摘	FINNIE K J WATrS D G ARMSTRONG P W	1984	Crit Care Med1984，12，11：	1
20	Proteome Analysis of grain filling and seed maturation in barley显示文摘	Finnie C Melchior S Roepstorff P Svensson B	2002	Plant Physiol2002，129，：	1

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