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| 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 | 波罗的海蓝藻赤潮的历史显示文摘波罗的海所发生的赤潮,主要是由Nodudaria spupmigena和Aphanizomenon sp.这两种蓝藻形成的。有关这些赤潮的长期变化记录可以从过去(1887~1938年)和现代(1974~1998年)出版的浮游植物数据记录中找到。通过各种不同的收集、分析方法已经得到了大量的数据,为了提高这些数据的可比性,人们正在不断地尝试老的、新的采样方式与固定方法。100多年前,浮游生物就做为鱼类的食物来源而引起了人们的兴趣;富营养化问题主要出现在南部的礁湖(haffs)以及大城市附近的海边水域。二战前,很少有关于开阔海域赤潮的报道。在过去的营养环境中,Nodudaria spupmigena和Aphanizomenon sp.的数量还很少,从1887~1938年的137个夏季采样中表明它们的丰度还没有达到过最高峰。在现在的营养环境中,高丰度是非常普遍的,这两个物种的数目范围相对于过去的营养环境来说有了明显的增长。自20世纪60年代以来,蓝藻赤潮在波罗的海本体与芬兰湾的开阔海域是非常常见的,这表明了营养物已经高度丰富。 | Terttu Finni Kaisa Kononen Riitta Olsonen Kerstin Wallstrm 马志华 | 2001 | AMBIO-人类环境杂志2001，30，4： | 2 |
| 3 | Energetics of charged point defects in rutile TiO2 by density functional theory显示文摘 | LI X FINNIS M W HE J BEHERA R K PHILLPOT S R SINNOTT S B DICKEY E C | 2009 | Acta Materialia2009，57，： | 1 |
| 4 | The Compliance Method for Measurement of Near Surface Residual Stresses-application and Validation for Surface Treatment by Laser and Shotpeening显示文摘 | Cheng W Finnie I Gremaud M Rosselet A Streit R D | 1994 | ASME Journal of Engineering Material and Technology1994，116，： | 1 |
| 5 | Porous silicon-based biosensor forpathogen detection显示文摘 | Finny P M Evangelyn C A | 2005 | BiosensorsandBioelectronics2005，20，8： | 1 |
| 6 | Behaviour of Vastus Lateralis Muscle-Tendon during High Intensity SSC Exercises in Vivo 显示文摘 | Ishikawa M Finni T Komi PV | 2003 | Acta Physiologica Scandinavica2003，178，3： | 1 |
| 7 | Common chromosomal fragile site FRA16D sequence: identification of the FOR gent spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells 显示文摘 | Ried K Finnis M Hobson L | 2000 | Hum Mol Genet2000，9，11： | 1 |
| 8 | A stabilization mechanism of zirconia based on oxygen vacancies only显示文摘 | FABRIS S PAXTON A T FINNIS M W | 2002 | Acta Mater2002，50，20： | 1 |
| 9 | A simple empirical n-body potential for transition metals显示文摘 | Finnis M W Sinclair J E | | 0，，： | 1 |
| 10 | Structural and chemical embrittlement of grain boundaries by impurities: A general theory and first-principles calculations for copper显示文摘 | LOZOVOI A Y PAXTON A T FINNIS M W | 2006 | Physi- cal Review B2006，74，15： | 1 |
| 11 | A simple empirical N~body potentialfor ransition metals 显示文摘 | Finnis M W Sinclair J E | 1984 | Philosophical Magazine A1984，50，1： | 1 |
| 12 | A simple empirical N- body potential for transition metals显示文摘 | Finnis M W Sinclair J E | 1984 | Philos Mag A1984，50，1： | 1 |
| 13 | Porous silicon-based biosensor for pathogen detection显示文摘 | Finny P M Evangelyn C A | 2005 | Biosensors and Bioelectronics2005，20，8： | 1 |
| 14 | Automatic Code Genera- tion from Design Patterns 显示文摘 | Burginsky F M Finnie P Yu | 1996 | IBM System Journal1996，35，2： | 1 |
| 15 | Point defects and chemical potentials in ordered alloys显示文摘 | HAGEN M FINNIS M W | 1998 | Philosophical Magazine A1998，77，2： | 1 |
| 16 | Influence of Cultivar and Environment on Water-Soluble and Water-insoluble Arabinoxylans in Soft Wheat显示文摘 | Finnie S M Bettge A D Morris C F | 2006 | Cereal Chemistry2006，83，6： | 1 |
| 17 | Use of the temporary i mersion bioreactor system (RITA) for production of commercial Eucalyptus clones in Mondi Forests (SA)显示文摘 | MCALISTER B FINNIE J WATT M P | 2005 | Plant Cell Tissue Organ Culture2005，，81： | 1 |
| 18 | Common chromosomal fragile site FRA16D sequence:identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells显示文摘 | Ried K Finnis M Hobson L | 2000 | Ham Mol Genet2000，9，： | 1 |
| 19 | Automatic Code Generation from Design Patterns显示文摘 | Burginsky F Finnie M Yu P | 1996 | IBM Systems Journal1996，35，2： | 1 |
| 20 | A simple empirical N-body potential for transition metals显示文摘 | Finnis M W Sinclair J E | 1984 | Philosophical Magazine A1984，50，1： | 1 |
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