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49篇 您的检索式：作者名="Jayanthi M"

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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	Effect of variable viscosity on non-Darcy free or mixed convection flow on a vertical surface in a fluid saturated porous medium 显示文摘	Jayanthi S Kumari M	2006	Mechanics Research Communication2006，33，2：	1
3	An eeo friendly and solvent free method for the synthesis of Zinc oxide nano particles using glycerol as organic dispersant 显示文摘	SARAVANAN M DHIVAKAR S JAYANTHI S S	2012	Materials Letters2012，67，1：	1
4	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
5	Integrated nutrient supply system of linked components in lowland integrated farming system显示文摘	Jayanthi C Balusamy M Chinnusamy C	2003	Indian Journal of Agronomy2003，48，4：	1
6	Methamphetamine causes differential regulation of pro-death and antideath Bcl-2 genes in the mouse neocortex显示文摘	Jayanthi S Deng X Bordelon M		0，，10：	1
7	Ceramic powder synthesis by spray pyrolysis显示文摘	Gary L M Zhang S C Jayanthi G V	1993	Journal of American Ceramic Society1993，76，11：	1
8	Evolution,homology conservation and identification of unique sequence signatures in GH19 family chitinases显示文摘	UDAYA P N JAYANTHI M SABARINATHAN R	2010	Journal of Molecular Evolution2010，70，5：	1
9	Methamphetamine causes differential regulation of pro-death and anti-death Bcl-2 genes in the mouse neocortex显示文摘	Jayanthi S Deng X Bordelon M	2001	FASEB J2001，15，：	1
10	To evaluate the effect of edrophonium on blood glucose levels in euglycemic albino rats through OGTT显示文摘	Amoghimath S Suresha R N Jayanthi M K	2015	J Clin Diagn Res2015，9，1：	1
11	Methamphetamine causes differential regulation of pro-death and anti-death Bcl-2 genes in the mouse neocortex显示文摘	Jayanthi S Deng X Bordelon M	2001	FASEB J2001，15，10：	1
12	CREB Phosphorylation regulates striatal transcriptional responses in the self-administration model of methamphetamine addiction in the rat显示文摘	Krasnova IN Chiflikyan M Justinova Z Mccoy MT Ladenheim B Jayanthi S	2013	Neurobiol Dis2013，58，：	1
13	Bilateral single ureteral ectopic:difficulty attaining continence using standard bladder neck repair显示文摘	Jayanthi V R Churchill B M Khoury A E	1997	J Urol1997，158，：	1
14	Efficiency of plant growth promoting rhizobacteria (PGPR) on enhancement of growth, yield and nutrient content of Catharanthus roseus 显示文摘	Lenin G Jayanthi M	2012	International Journal of Research in Pure and Applied Microbiology2012，2，：	1
15	Integrated nutrient supply system of linked components in lowland integrated farming system显示文摘	Jayanthi C Balusamy M Chinnusamy C	2003	Indian Journal of Agronomy2003，48，4：	1
16	Methamphetamine causes differential regulation of pro-death and anti-death Bcl-2 genes in the mouse neocortex显示文摘	Jayanthi S Deng X Bordelon M	2001	Fed Am Soc Exp Biol J2001，15，10：	1
17	Loss of elasticity in dysfunctional bladders urodynamic and histochemical correlation显示文摘	Jayanthi V R Churchill B M	1994	J Urol1994，152，22：	1
18	Rapid andsensitive analytical method for simultaneous determination ofimidacloprid and thiamethoxam residues in soils of sugarcaneecosystem by reversed-phase HPLC显示文摘	Thirumalaiandi R Paramasivam M Jayanthi R	2012	Water Air Soil Pollut2012，223，9：	1
19	Methamphetamine causes differential regulation of pre-death Bcl-2 genes in the mouse neocortex 显示文摘	Jayanthi S Deng X Berlelon M	2001	FASEB J2001，15，10：	1
20	Loss of elasticity in dysfunctional bladders urodynamic and histochmaical correlation显示文摘	Landau E H Jayanthi V R Oatadaill B M	1994	Urol1994，152，2：	1

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