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34篇 您的检索式：作者名="MALATHI N"

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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	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	Health hazards of xylene: a literature review 显示文摘	Rajah S Malathi N	2014	J Clin Diagn Res2014，8，2：	1
4	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
5	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
6	Anthocyanins from Indian Varieties of grapes显示文摘	Ghosh N Malathy V Shalia K K	2002	Food Science Technology2002，39，4：	1
7	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
8	Epstein-barr virus and its association with rheumatoidarthritis and oral lichen planus 显示文摘	ADTANI P MALATHI N	2015	J Oral MaxiUofac Pathol2015，19，3：	1
9	Role of amino acid properties to determine backbone τ(N-Ca-C') stretching angle in peptides and proteins显示文摘	Malathy Sony SM Saraboji K Sukumar N	2006	Biophys Chem2006，120，：	1
10	Efficacy of heat treatment and sun drying of aflatoxin contaminated feed for reducing the harmful biological effects in sheep 显示文摘	Gowda N K S Suganthi R U Malathi V	2007	Animal Feed Science and Technology2007，133，12：	1
11	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
12	Anthocyanins from Indian varieties of grapes 显示文摘	Chosh N Malathy V Shalia K K	2002	J Food Sci Teehnol2002，39，4：	1
13	Preparation of amniotic membrane for ocular surface reconstruction 显示文摘	Madhavan H N Priya K Malathi J	2002	Indian J Ophthalmol2002，50，3：	1
14	Pulsating potentiometric titration technique for assay of dissolved oxygen in water at trace level 显示文摘	SAHOO P ANANTHANARAYANAN R MALATHI N	2010	Analytiea Chimica Aeta2010，669，12：	1
15	Pulsating potentiometric titration technique for assay of dissolved oxygen in water at trace level 显示文摘	SAHOO P ANANTHANARAYANAN R MALATHI N	2010	Analytica Chimica Acta2010，669，12：	1
16	Intelligent ap- proaches using support vector machine and extreme learning machine for transmission line protection 显示文摘	Malathi V Marimuthu N S Baskar S	2010	Neuroeomputing2010，73，1012：	1
17	Pulsating potentiometric titration technique for assay of dissolved oxygen in water at trace level显示文摘	Sahoo P Ananthanarayanan R Malathi N	2010	Analytica Chimica Ac- ta2010，669，12：	1
18	Efficacy of heat treatment and sun drying of aflatoxin contaminated feed for reducing the harmful biological effects in sheep显示文摘	Gowda N K S Suganthi R U Malathi V	2007	Animal Feed Science and Technology2007，133，12：	1
19	Hpstein-Barr virus and its association withrheumatoidarthritis and oral lichen planus 显示文摘	Adtani P Malathi N	2015	J Oral MaxillofacPathol2015，19，3：	1
20	Efficacy of heat treatment and sun drying of aflatoxin-contaminated feed for reducing 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

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