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28篇 您的检索式：作者名="Malathi P"

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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	A rapid method for the isolation of kidney brush border membranes显示文摘	Malathi P Preiser H Fairclough P	1979	Biochimica et Biophysica Acta1979，554，：	1
3	Role of additives in bright zinc deposition from cyanide free alkaline baths显示文摘	Shanmic M Malathy P	2006	Journal of Applied Electrochemistry2006，36，3：	1
4	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
5	Molecular cloning and characterization of complementary de oxyribonucleic acids corresponding to bovine tropho blast protein-1:a comparison with ovine trophoblast protein-1 and bovine interferon-alpha Ⅱ显示文摘	Imakawa K Hansen T R Malathy P V	1989	Mol Endocrinol1989，3，1：	1
6	A rapid method for the isolation of kidney brush border membranes显示文摘	Malathi P Periser H Fairclough P	1979	Biochem et Biophys Acta1979，554，：	1
7	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
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	Pathogenic and molecular confirmation of Fuaarium sacchari causing wilt in sugarcane显示文摘	Viswanathan R Poongothai M Malathi P	2011	Sugar Tech2011，13，：	1
10	A rapid method for the i-solation of kidney brush border membranes显示文摘	Malathi P Preser H Fairclough P	1979	Biochimicaet Bio-physica Acta1979，554，1：	1
11	Dielectric relaxation studies of nylon 11 with phenol derivatives in non-polar solvents using time domain refleetometry 显示文摘	Mohan K P Malathi M	2009	Journal of Molecular Liquids2009，145，1：	1
12	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
13	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
14	Keys to identify pathogen variability in Col- letotnehum fMcum Went causing red rot in sug- arcane显示文摘	Malathi P Viswanathan R Ramesh Sundar A	2013	EJBS2013，6，1：	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 Ac- ta2010，669，12：	1
16	Efficacy of thiophanate methyl against red rot of sugarcane显示文摘	Malathi P Padmanaban P Viswanathan R	2004	Acta Phytopathologica et Ento- mologica Hungarica2004，39，：	1
17	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
18	Interactionbetween sugarcane and Colletotrichum falcatum causing ret rot :understanding disease resistance at transcription level 显示文摘	Viswanathan R Sundar A R Malathi P	2009	SugarTech2009，11，1：	1
19	Use of intense pulse light for acne vulgaris in Indian skin-a case series 显示文摘	Mohanan S Parveen B Annie Malathy P	2012	Int J Dermatol2012，51，4：	1
20	Keys to identify pathogen variability in Colletotrichum falcatum Went causing red rot in sugarcane显示文摘	MALATHI P VISWANATHAN R RAMESH SUNDAR A	2013	EJBS2013，6，1：	1

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