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27篇 您的检索式:作者名="Jayanthy G"
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1Genotype 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 2008World Journal of Gastroenterology2008,14,29:3
2Effect of hypos- padias on sexual function and reproduction 显示文摘Singh JC Jayanthi VR Gopalakrishnan G 2008Indian J Urol2008,24,2:1
3Ceramic powder synthesis by spray pyralsis显示文摘Messing G L Zhang Shi-Chang Jayanthi G V 1993Journal of American Ceramics Society1993,76,11:1
4Involve-ment of Dopamine Receptors in Binge Metham-phetamine-induced Activation of Endoplasmic Reticulumand Mitochondrial Stress Pathways 显示文摘BEAUVAIS G ATWELLK JAYANTHI S 2011PLoS One2011,6,28:1
5Ceramic powder synthesis by spray pyrolysis显示文摘Gary L M Zhang S C Jayanthi G V 1993Journal of American Ceramic Society1993,76,11:1
6显示文摘Gary L Messing Zhang Shi-Chang Jayanthi G V 1993Journal of American Ceramic Society1993,76,11:1
7显示文摘Jayanthi G V Zhang S C Messing G L 1993Aerosol Science and Technology1993,19,:1
8Prophylatic Loehing of enteral feeding tubes with panereaiic enzymes 显示文摘SRIRAM K JAYANTHI V LAKSHMI R G 1997JPEN1997,21,6:1
9Efficacy of benzydamine hydrochloride, chlorhexidine, and povidone iodine in the treatment of oral mucositis among patients undergoing radiotherapy in head and neck malignancies: a drug trail显示文摘Roopashri G Jayanthi K Guruprasad R 2011Contemp Clin Dent2011,2,1:1
10Ameliorating effect of fish oil on acrylamide induced oxidative stress and neuronal apopto- sis in cerebral cortex 显示文摘Lakshmi D Gopinath K Jayanthy G eta/ 2012Neurochem Res2012,37,:1
11Efficiency 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 2012International Journal of Research in Pure and Applied Microbiology2012,2,:1
12Ceramic powder synthesis by spray pyrolysis显示文摘Messing G L ZHANG Shi-chang Jayanthi G V 1993Journal of the American Ceramic Society1993,76,11:1
13Contradictory supranormal differential renal function during nuclear renographic investigation of hydroureteronephrosis显示文摘Steckler R E Mclorie G A Jayanthi V R 1994J Urol1994,152,22:1
14Long-term therapy with sulphasalazine protects against colorectal cancer in ulcerative colitis: a retrospective study of colorectal cancer risk and compliance with treatment in Leicestershire显示文摘G A Moody V Jayanthi C S J Probert H Mac Kay J F Mayberry 1996European Journal of Gastroenterology & Hepatology1996,,12:1
15显示文摘Messing G L Zhang S C Jayanthi G V 1993J Am Ceram Soc1993,76,11:1
16Ceramic powder synthesis by spray pyrolysis显示文摘MESSING G L ZHANG S C JAYANTHI G V 1993J Am Ceram Soc1993,76,11:1
17Raman-induced timing jitter in dispersion-managed optical communication systems显示文摘Jayanthi Santhanam and Agrawal G P 2002IEEE Journal of Selected Topics in Quantum Electronics2002,8,3:1
18Which is better-retroperitoneoscopic or laparoscopic dismembered pyeloplasty in children?显示文摘Canon S J Jayanthi V R Lowe G J 2007J Urol2007,178,42:1
19Modeling of solid particle formation during solution aerosol thermolysis: the evaporation stage显示文摘JAYANTHI G V ZHANG S C MESSING G L 1993J Aerosol Sci Technol1993,19,4:1
20Ceramic powder synthesis by spray pyrolysis显示文摘MESSING G L ZHANG S C JAYANTHI G V 1993Journal of the American Chemical Society1993,76,11:1
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