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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	Additive partitioning of di- versity across hierarchical spatial scales in a forested landscape 显示文摘	Chandy S Gibson D J Robertson P A	2006	Journal of Applied Ecology2006，43，4：	1
3	Functional properties of rice bran protein concentrates显示文摘	Chandi G K Sogi D S	2007	Journal of Food Engineering2007，79，2：	1
4	Central obesity is an independent risk factor for albuminuria in nondiabetic South Asian subjects 显示文摘	Chandie Shaw P K Berger S P Mallat M	2007	Diabetes Care2007，30，7：	1
5	Functional properties of rice bran protein concentrates显示文摘	Chandi G K Sogi D S	2007	Journal of Food Engineering2007，79，：	1
6	ATP7B mutations in families in a predominantly southern Indian cohort of Wilson's disease patients显示文摘	Santhosh S Shaji R V Eapen C E Jayanthi V Malathi S Chandy M	2006	Indian J Gastroenterol2006，25，：	1
7	Development of chitosan/polyethylene vinyl acetatete comatrix:Controlled release of asprin-heparin for preventing cardiovascular thrombosis显示文摘	Vasudev S C Chandy T Sharma C P	1997	biomaterial1997，18，：	1
8	Effect of extraction tempera- ture on functional properties of rice bran protein concentrates 显示文摘	Gupta S Chandi G K Sogi D S	2008	International Journal of Food Engineering2008，4，2：	1
9	Validation study of a central venous pressure based protocol for the nlanagement of neurosugical patient with hyponatremia and natriuresis 显示文摘	DAMARAJU S C RAJSHEKHAR V CHANDY M J	1997	Neuro surgery1997，40，2：	1
10	Is dengue emergingas a major public health problem 显示文摘	Vijayakumar TS*Chandy S Sathish N	2005	Indian J Med Res2005，121，2：	1
11	In search of diver- sity: the record of major marketing journals 显示文摘	Tellis G J Chandy R K Ackerman S	1999	Journal of Marketing Research1999，36，1：	1
12	Mechanisms of cardiac perforation leading to tamponade in ballon mitral valvuloplasty显示文摘	Joseph G Chandy ST Krishnaswami S	1997	Cathet Cardiovasc Diagn1997，42，：	1
13	Functional properties of rice bran protein concentrates显示文摘	Gurpreet Kaur Chandi D S Sogi	2007	Journal of Food Engineering2007，79，2：	1
14	Functional properties of rice bran protein concentrates显示文摘	CHANDI G K SOGI D S	2007	Journal of Food Engineering2007，79，2：	1
15	Hydrocortisone dose and postoperative diabetes insipidus in patients undergoing transsphenoidal pituitary surgery: A prospective randomized controlled study 显示文摘	Rajaratnam S Seshadri MS Chandy MJ	2003	Br J Neurosurg2003，17，5：	1
16	Validation study of a central venous pressure-based protocol for the management of neurosurgical patients with hyponatremia and natriuresis 显示文摘	Damaraju S Rajshekhar V Chandy M	1997	Neurosurgery1997，40，：	1
17	Association of methylenetetrahydrofolate reductase gene polymorphisms & colorectal cancer in India显示文摘	Chandy S Sadananda Adiga MN Ramachandra N	2010	Indian J Med Res2010，131，：	1
18	A Prospective Evaluation of Leflunomide Therapy for Cytomegalovirus Disease in Renal Transplant Recipients 显示文摘	John GT Manivannan J Chandy S	2005	Transplantation Proceedings2005，37，10：	1
19	Brainstem glioma: comparative study of clinico-radiological presentation, pathology and outcome in children and adults 显示文摘	Selvapandian S Rajshekhar V Chandy MJ	1999	Acta Neurochir (Wien)1999，141，7：	1
20	5-fluorouracil-loaded chitosan coated polylactic acid microspheres as biodegradable drug carriers for cerebral tumours显示文摘	Chandy T Das G S Rao G H R	2000	Journal of Microencapsulation2000，17，5：	1

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