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61.
Scott RH Douglas J Baskcomb L Huxter N Barker K Hanks S Craft A Gerrard M Kohler JA Levitt GA Picton S Pizer B Ronghe MD Williams D;Factors Associated with Childhood Tumours 《Nature genetics》2008,40(11):1329-1334
Constitutional abnormalities at the imprinted 11p15 growth regulatory region cause syndromes characterized by disordered growth, some of which include a risk of Wilms tumor. We explored their possible contribution to nonsyndromic Wilms tumor and identified constitutional 11p15 abnormalities in genomic lymphocyte DNA from 13 of 437 individuals (3%) with sporadic Wilms tumor without features of growth disorders, including 12% of bilateral cases (P = 0.001) and in one familial Wilms tumor pedigree. No abnormality was detected in 220 controls (P = 0.006). Abnormalities identified included H19 DMR epimutations, uniparental disomy 11p15 and H19 DMR imprinting center mutations (one microinsertion and one microdeletion), thus identifying microinsertion as a new class of imprinting center mutation. Our data identify constitutional 11p15 defects as one of the most common known causes of Wilms tumor, provide mechanistic insights into imprinting disruption and reveal clinically important epigenotype-phenotype associations. The impact on clinical management dictates that constitutional 11p15 analysis should be considered in all individuals with Wilms tumor. 相似文献
62.
Study on the REM Model for Group Decision Making 总被引:1,自引:0,他引:1
IntroductionAsocialchoicefunctionisamappingwhichassignsanonemptysubsetofthepotentialfeasiblesubsettoeachorderedpairconsistentofapotentialfeasiblesubsetofalternativesandascheduleorprofileofvoters'preferences.Consideranopinionaggregationprobleminwhichagroupofexpertsgivetheirscoresthatexpresstheirpreferencestoasetofalternativesanddesiretocombinetheirscoresintoasingleaggregationpreferenceoverthealternativeset.Theunderlyingideahereisthattheconsensusofnumerousexpertsresultsinasuperiorpreferenceonthe… 相似文献
63.
COHERENT, REGULAR AND SIMPLE SYSTEMS IN ZERO DECOMPOSITIONS OF PARTIAL DIFFERENTIAL SYSTEMS 总被引:1,自引:0,他引:1
LI Ziming 《系统科学与复杂性》1999,(Z1)
1.IntroductionWeareconcernedwithalgebraicdifferentialpolynomials(abbreviatedas'd-pcis)inafinitenumberofdifferentialindeterminatesoveradifferentialfieldofcharacteristic0.Givenafinitesetofsuchd-pcis,wewouldliketostudyd-Zero(),thedifferentialalgebraicsetdefinedbyPoverauniversaldifferentialfield.Wemayaskwhetherd-Zero()isempty,whetherad-pcivanishesond-Zero()(differentialradicalidealmembershipproblem),whatthedimensionofd-Zero()is,howtodecomposed-Zero()intoirreduciblealgebraicdifferentialsets,andso… 相似文献
64.
WANG Dongqian 《系统科学与复杂性》1999,(4)
1.IntroductionAnUInberofauthorshaveconsideredtheproblemoffittingmodelsofquasi-independencetocontingenCytabledatawhichareeithertriangUlarorhaveanexcludeddiagonal.hithispaperthevariousmethodsproposedforfittingthesemodelsarecompared.ItisthenshoWnthstparameterestimatesarethesamefordifferentmodelsinsomecases.Anew,verysample,easytoimplemeDtalgoritlunispreseDted.Finallysomepreviousiterstivemethodsarecomparedwiththenewmethod.2.Quasi-IndependenceModeisforContingencyamblesSupposethatatwo-waycolltin… 相似文献
65.
1.INTaODUCTIONThemultilayerfeedforwardneuralnetworks(MFNN)hasbeenwidelyappliedinmanyfieldssuchaspatternrecognition,nonlinearoptimization,systemidentificationandcontrol.Thesimpleback-propagation(BP)learningalgorithmisusuallyadoptedtoupdateitsweights.TheBPalgorithm,however,suffersdrawbacksofslowconvergenceandunpredictablesolutionsduringlearning.Althoughmailyapproachessuchasvariablestepsize,conjugategradient,pseudo-Newtonmethods[4]andothermethods[3,10],havebeendevelopedtoovercometheproble… 相似文献
67.
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles 总被引:21,自引:0,他引:21
Seal S Thompson D Renwick A Elliott A Kelly P Barfoot R Chagtai T Jayatilake H Ahmed M Spanova K North B McGuffog L Evans DG Eccles D;Breast Cancer Susceptibility Collaboration 《Nature genetics》2006,38(11):1239-1241
We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2/2,081 controls (P = 0.0030), and we estimate that BRIP1 mutations confer a relative risk of breast cancer of 2.0 (95% confidence interval = 1.2-3.2, P = 0.012). Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers. 相似文献
68.
Kenneth R.Lang 《国外科技新书评介》2005,(6):23-23
本书以最新的视角描述了行星和月亮。开始用短短的篇幅介绍行星的观测和发现历史,然后介绍行星及其卫星的共同特点、演化过程和状况。在各章节中讲述各个行星和太阳系其它天体,包括新近的多种空间任务,从阿波罗探月到近期的木星和火星探测。书中充满了至关重要的事实和信息,以及极其精美的彩色照片。 相似文献
69.
ResearchonDNAcomputingwasinitializedin1994 ,whenAdleman[1] proposedamethodofsolvingasmallinstanceoftheHamiltonianPathproblembyalaboratoryexperimentinvolvingDNAmolecules .Later,Lipton[2 ] demonstratedhowalargeclassofNP completeproblemscouldbesolvedbyencodingtheprobleminDNAmolecules .Inparticular ,LiptonshowedonefamousNP problem ,theso called“satisfiability”problem (SAT)andsubsequentlytheotherNP problemscouldbeencodedandsolvedusingmolecules .TheadvantagesofDNAcomputingareitsmassivepa… 相似文献
70.
Using the data, especially the GPS rawinsode data, observed in Anduo area of the Tibetan Plateau during the intensive observation period of GAME/Tibet in 1998, the transition from the dry to the rainy season along with their boundary layer characteristics is analyzed comprehensively. The result shows that the formation of the rainy season in Anduo area is related closely to the general atmospheric circulation. The westerly belt moving north and the southeast damp current are basic conditions for development of the rainy season in Anduo area. In the dry season, the air is drier, air temperature higher, and the atmospheric boundary layer is strongly developed to cause its maximum height to reach about 3550 m. Moreover the sensible heat flux is dominant, and the latent heat flux is small in the interaction of land-atmosphere energy exchange, and a reverse humidity phenomenon occurs frequently. In the rainy season, the air is damper, air temperature lower, and the ABL height, with maximum of only about 2300 m, is lower. And the sensible heat flux becomes much smaller, the latent heat flux much larger in the interaction of land-atmosphere energy exchange. The reverse humidity phenomenon disappears. 相似文献