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53篇 您的检索式：作者名="FINNIS S"

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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	Energetics of charged point defects in rutile TiO2 by density functional theory显示文摘	LI X FINNIS M W HE J BEHERA R K PHILLPOT S R SINNOTT S B DICKEY E C	2009	Acta Materialia2009，57，：	1
3	Antibacterial, antifungal and anti-inflammatory properties of Burchellia bubalina 显示文摘	Amoo S O Ndhlala A R Finnie J F	2009	South African Journal of Botany2009，75，：	1
4	A stabilization mechanism of zirconia based on oxygen vacancies only显示文摘	FABRIS S PAXTON A T FINNIS M W	2002	Acta Mater2002，50，20：	1
5	Student loans in Canada: an analysis of borrowingand repayment 显示文摘	Schwartz S Finnie R	2002	Economics of Education Review2002，21，5：	1
6	Efficacy of an alcohol-free chlorhexidine mouthrinse as an antimi- crobial agent显示文摘	Eldridge K R Finnie S F Stephens J A	1998	J Prosthet Dent1998，80，6：	1
7	The effect of carbohydrate composition and concentration on anther culture response in Barley显示文摘		1989	Plant Breeding1989，103，：	1
8	Behaviour and control of influenza in institutions and small societies 显示文摘	Finnie TJ Hall IM Leach S	2012	J R Soe Med2012，105，2：	1
9	Formation ofsilica nanoparticles in microemulsions显示文摘	Finnie K S Bartlett J R Barbe CJA	2007	Langmuir2007，23，6：	1
10	Influence of Cultivar and Environment on Water-Soluble and Water-insoluble Arabinoxylans in Soft Wheat显示文摘	Finnie S M Bettge A D Morris C F	2006	Cereal Chemistry2006，83，6：	1
11	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
12	Differential appearance of isoforms and cultivar variation in protein temporal profiles reveals in the maturing barley grain proteome显示文摘	Finnie C Bak-Jensen K S Laugesen S	2006	Plant Science2006，170，：	1
13	Influence of cultivar and environment on water-soluble and water-insoluble arabinoxylansin soft wheat显示文摘	Finnie S M Bettge A D Morris C F	2006	Cereal Chemistry2006，83，：	1
14	Raman Study of the Relationship Between Room-Temperature Tetragonality and the Curie Point of Barium Titanate 显示文摘	Begg B D Finnie K S Vance E R	1996	Journal of theAmerican Ceramic Society1996，79，10：	1
15	Do 14-3-3 proteins and plasma membrane H+-ATPases interact in the barley epidermis in response to the barley powdery mildew fungus显示文摘	Finni C Andersen C H Borch J Gjetting S Christensen A B De Boer A H Thordal-Christengsen H Collinge D B		0，，：	1
16	Influence of eultivar and envi- ronment on water-soluble and water-insoluble arabinoxylans in soft wheat显示文摘	Finnie S M Bettge A D Morris C F	2006	Cereal Chemistry2006，83，：	1
17	Sexual harassment in nursing显示文摘	Bender M P Finnis S J	1997	J-Adv-Nurs1997，25，1：	1
18	Proteome analysis of barley seeds:identification of major proteins from twodimensional gels(oⅠ 4 -7)显示文摘	Ostergaard O Finnie C Laugesen S	2004	Proteomics2004，4，8：	1
19	Sol-gel matrices for controlled release: from macro to nano using emulsion polymerisation 显示文摘	Barb C J Kong L Finnie K S	2008	Journal of SogGel Science Technology2008，46，：	1
20	Antibacterial,antifungal and anti-inflammatory properties of Burchellia bubalina显示文摘	Amoo S O Ndhlala A R Finnie J F	2009	South African Journal of Botany2009，75，：	1

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