维普期刊资源整合服务平台（V6.5）

67篇 您的检索式：作者名="S Malathi"

选中清除导出查看参考文献查看引证文献引用追踪共4页首页上一页第1页下一页末页 /4 跳转

	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	Efficacy of heat treatment and sun drying of aflatoxin-contaminated feed for re- ducing the harmful biological effects in sheep显示文摘	Gowda N K S Suganthi R U Malathi V	2007	Animal Feed Science and Technology2007，133，1：	1
3	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
4	Oesophageal manometry in noncardiac chest pain显示文摘	Suthahar DR Malathi S Vidyanathan V	1994	Trop Gastroenterol1994，15，2：	1
5	Health hazards of xylene: a literature review 显示文摘	Rajah S Malathi N	2014	J Clin Diagn Res2014，8，2：	1
6	PLGA Nanoparticles for Anti Tu- berculosis Drug Delivery显示文摘	Malathi S Balasubramanian S	2012	Adv Mat Res2012，548，10：	1
7	IntracMlular cahium release is requiredfor easpuse-3an d-9 activation显示文摘	Tan tral L Malathi K Kohyama S	2004	Cell Bioehem Funet2004，22，：	1
8	Unusual presentation of a retroperitoneal lymphangioma显示文摘	Rani DV Srilakshmi R Malathi S	2006	Indian Journal of Pediatrics2006，，07：	1
9	Intelligent approa- ches using support vector machine and extreme learning machine for transmission line protection 显示文摘	Malathi V Marimuthu N S Baskar S	2010	Neurocom uutinu2010，73，：	1
10	Intelligent approaches using support vector machine and extreme learning machine for transmission line protection显示文摘	MALATHI V MARIMUTHU N S BASKAR S	2010	Neurocomputing2010，73，101112：	1
11	Intraeellular calcium release is required for caspase -3 and -9 activation 显示文摘	Tantral L Malathi K Kohyama S	2004	Cell Biochem Funct2004，22，1：	1
12	Novel PLGA-based nanoparticles for the oral deliveff of insulin 显示文摘	Malathi S Nandhakumar P Pandiyan V	2015	lnt J Nanomedi-citle2015，10，：	1
13	A noncyanide bath for the electrodeposition of tin-zinc alloys显示文摘	Vasantha V S Malathy Pushpavanam Muralidharan V S		0，，11：	1
14	Production of leukotrines and postaglangins in the rat uterus during peri-implantation period显示文摘	Malathy P V Chen H C Dey S K	1986	Prostaglandins1986，32，4：	1
15	Rolled fingerprint segmenation 显示文摘	MALATHI S UMA MAHESWARI S MEENA C	2010	Global Journal of Computer Science and Technology2010，9，5：	1
16	Intelligent approaches using support vector machine and extreme learning machine for transmission line protection 显示文摘	Malathi V Marimuthu N S Baskar S	2010	Neurocomputing2010，73，1012：	1
17	Multispectrum analysis of self- and nitrogen- broadening, pressure shifting and line mixing in the v3 parallel band of ^12CH3D显示文摘	Malathy D V Chris B D Ann S H M	2002	Joural of Quantitative Spectroscopy and Radiative trans- fer2002，73，6：	1
18	Pulse and pulse reverse plating-Conceptual, advantages and applications 显示文摘	Chandrasekar M S Malathy Pushpavanam	2008	Electrochimica Acta2008，53，：	1
19	Rolled fingerprint segmenation 显示文摘	MALATHI S UMA MAHESWARI S MEENA C	2010	Global Journal of Computer Science and Technology2010，9，5：	1
20	Production of Alkaline Proteinase by a New Aspergillus Flavus Isolate Under Solisubstrate Fermentation Condition for Use as a Depletion Agent显示文摘	Malathi S Chakraborty R	1991	Appl Eniron Micrlbiot1991，57，：	1

返回顶部每页显示：

共4页首页上一页第1页下一页末页 /4 跳转

互联网出版许可证新出网证(渝)字10号全国400电话 - 免长途话费

用户提示