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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 effect of structure of oil phase, surfactant and cosurfactant on the ph- ysicochemical and electrochemical properties of biconti-nuous microemulsion 显示文摘	SRIPRIYA R MUTHU R K SANTHOSH G	2007	Colloid Interface Sci2007，314，2：	1
	3	Side population cells as prototype of chemoresistant, tumor-initiating ceils 显示文摘	RICHARD V NAIR M G SANTHOSH KUMAR TR	2013	BioMed Research International2013，10，1155：	1
	4	An overview on the synthetic routes and properties of ammonium dinitramide(ADN) and other dinitramide salts 显示文摘	Venkatachalam S Santhosh G Ninan K N	2004	Propellants Explosives Pyro- technics2004，29，：	1
	5	Side population cells as prototype of chemoresistant, tumor-initiating cells 显示文摘	RICHARD V NAIR M G SANTHOSH K T R	2013	Bi- omed Research Internationan2013，12，3：	1
	6	Transient modeling in simulation of hospital operations for emergency response 显示文摘	Jomon A P Santhosh K G	2006	Prehospital and Disaster Medicine2006，21，4：	1
	7	Virtualization techniques:a methodical review of XEN and KVM显示文摘	Binu A Santhosh Kumar G	2011	Communications in Computer and Information Science2011，190，：	1
	8	Hospital capacity planning for disaster emergency management 显示文摘	Yi Pengfei Santhosh K G	2010	Socio-economic Planning Sciences2010，44，：	1
	9	An overview on the synthetic routes and properties of ammonium dinitramide (ADN) and other dinitramide salts显示文摘	Venkatachalam S Santhosh G Ninan K		0，，03：	1
	10	The effect of structure of oil phase, surfactant and co-surfactant on the physicochemical and electrochemical properties of bicontinuous microemulsion 显示文摘	Sripriya R Muthu Raja K Santhosh G	2007	Journal of Colloid and Interface Science2007，314，2：	1
	11	Effects of Sodium Thiosulfate on Vascular Calcification in End-Stage Renal Disease: A Pilot Study of Feasibility, Safety and Efficacy显示文摘	Mathews Santhosh Jay De Las Fuentes Lisa Podaralla Prashanth Cabellon Anton Zheng Sijie Bierhals Andrew Spence Karen Slatopolsky Eduardo Davila-roman Victor G Delmez James A	2011	EN2011，，2：	1
	12	The influence of different composite placement techniques on microleakage in preparations with high C-factor: An in vitro study显示文摘	Santhosh L Bashetty K Nadig G	2008	Conserv Dent2008，11，3：	1
	13	The influence of different composite placement techniques on microleakage in prepara- tions with high C- factor: an in vitro study 显示文摘	Santhosh L Bashetty K Nadig G	2008	J Conserv Dent2008，11，3：	1
	14	Transient Modeling in Simulation of Hospital Operations for Emergency Response显示文摘	Jomon A P Santhosh K G 2006	2006	Prehospital and Disaster Medicine2006，21，4：	1
	15	An overview on the synthetic routes and properties of ammonium dinitramide (ADN) and other dinitramide salts显示文摘	VENKATACHALAM S SANTHOSH G NINAN K N	2004	Propellants Explosives Pyrotechnics2004，29，3：	1
	16	Assessment of genetic diversity in cashew germplasm using RAPD and ISSR markers显示文摘	Thimmappaiah Santhosh W G Shobha D	2009	Scientia Horticulturae2009，120，：	1
	17	An overview on the synthetic routes and properties of ammonium dinitramide(ADN)and other dinitramide salts显示文摘	Venkatachalam S Santhosh G Ninan K N	2004	Propellants Explosives Pyrotechnics2004，29，：	1

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