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17篇 您的检索式：作者名="Finnie N"

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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	Third ventricular cavernous haemangioma 显示文摘	Darwish B Boer R Finnis N	2005	Clin Neurosci2005，12，5：	1
	3	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
	4	Improvement in muscle performance by chronic electrical stimulation in children with cerebral palsy显示文摘	Dubowitz L Finnie N Hyde SA	1998	Lancet1998，1，：	1
	5	Ab initio computational study of Ga in an Al grain boundary显示文摘	THOMSON D I HEINE V FINNIS M W MARAZI N	1997	Philos Mag Lett1997，76，：	1
	6	Insight into gallium behaviour in aluminium grain boundaries from calcuiation on Sigma = 11 (113) boundary显示文摘	THOMSON D I HEINE V PAYNE M C MARZARI N FINNIS M W	2000	Acta Mater2000，48，：	1
	7	Analysis of the relationships between oxidative stress, DNA damage and sperm vitality in a patient population: development of diagnostic criteria显示文摘	Aitken R J DeIuliis G N Finnie J M	2010	Hum Reprod2010，25，：	1
	8	Molecular and biochemical char - new X - ray - sensitive mutants defective in Ku80 显示文摘	EVRRAMI A FINNIE N J MOROLLI B	1998	Nucleic(acterlzationof) Acids Res1998，6，：	1
	9	Molecular and biochemical characterization of new X- ray-sensitive hamster cell mutants defective in Ku80显示文摘	Errami A Finnie N J Morolli B Jackson S P Lohman P H M Zdzienicka M Z	1998	Nucleic Acids Res1998，26，19：	1
	10	The shear angle relationship in metal cutting 显示文摘	Shaw M C Cook N H Finnie I	1953	Transactions of the ASME1953，75，：	1
	11	Topography of c-fos immunoreactivity in an ovine head impact model 显示文摘	Finnie J Manavis J Jones N	2005	J Clin Neurosci2005，12，7：	1
	12	DNA -dependent protein kinase activity is absent in xrs -6 cells :implications for site -specific recombina- tion and DNA double- strand break repair显示文摘	FINNIE N J GOTILIEB T M BLUNT T	1995	Proc Natl Acad Sci USA1995，92，1：	1
	13	Structure and stability of patterned self-assembled films of octadecyl-trichlorosilane formed by contact printing 显示文摘	Jeon N L Finnie K Branshaw K	1997	Langmuir1997，13，13：	1
	14	Longitudinal and transverse mixing in rotary kilns: A discrete element method approach显示文摘	Finnie G J Kruyt N P Ye M	2009	Chemical Engineering Science2009，60，15：	1
	15	Improvement in muscle per- formance by chronic electrical stimulation in children with cerebral palsy显示文摘	Dubowitz L Finnie N Hyde SA	1998	Lancet1998，1，11：	1
	16	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
	17	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，：	1

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