Tải bản đầy đủ (.pdf) (3 trang)

Andersons pediatric cardiology 300

Bạn đang xem bản rút gọn của tài liệu. Xem và tải ngay bản đầy đủ của tài liệu tại đây (60.76 KB, 3 trang )

86.RobinsonSW,MorrisCD,GoldmuntzE,etal.
MissensemutationsinCRELD1areassociated
withcardiacatrioventricularseptaldefects.AmJ
HumGenet.2003;72:1047–1052.
87.ZatykaM,PriestleyM,LadusansEJ,etal.
AnalysisofCRELD1asacandidate3p25
atrioventicularseptaldefectlocus(AVSD2).
ClinGenet.2005;67:526–528.
88.GargV,KathiriyaIS,BarnesR,etal.GATA4
mutationscausehumancongenitalheartdefects
andrevealaninteractionwithTBX5.Nature.
2003;424:443–447.
89.WeismannCG,HagerA,KaemmererH,etal.
PTPN11mutationsplayaminorroleinisolated
congenitalheartdisease.AmJMedGenetA.
2005;136:146–151.
90.DigilioMC,MarinoB,GiannottiA,ToscanoA,
DallapiccolaB.Recurrenceriskfiguresfor
isolatedtetralogyofFallotafterscreeningfor
22q11microdeletion.JMedGenet.
1997;34:188–190.
91.NoraJJ.Multifactorialinheritancehypothesisfor
theetiologyofcongenitalheartdiseases.The
genetic-environmentalinteraction.Circulation.
1968;38:604–617.
92.GoldmuntzE,GeigerE,BensonDW.NKX2.5
mutationsinpatientswithtetralogyoffallot.


Circulation.2001;104:2565–2568.
93.EldadahZA,HamoshA,BieryNJ,etal.Familial


TetralogyofFallotcausedbymutationinthe
jagged1gene.HumMolGenet.2001;10:163–
169.
94.PizzutiA,SarkozyA,NewtonAL,etal.
MutationsofZFPM2/FOG2geneinsporadic
casesoftetralogyofFallot.HumMutat.
2003;22:372–377.
95.MillerME,SmithDW.Conotruncal
malformationcomplex:examplesofpossible
monogenicinheritance.Pediatrics.
1979;63:890–893.
96.WulfsbergEA,ZintzEJ,MooreJW.The
inheritanceofconotruncalmalformations:a
reviewandreportoftwosiblingswithtetralogy
ofFallotwithpulmonaryatresia.ClinGenet.
1991;40:12–16.
97.BurnJ,BrennanP,LittleJ,etal.Recurrencerisks
inoffspringofadultswithmajorheartdefects:
resultsfromfirstcohortofBritishcollaborative
study.Lancet.1998;351:311–316.
98.DigilioMC,CaseyB,ToscanoA,etal.Complete
transpositionofthegreatarteries:patternsof
congenitalheartdiseaseinfamilialprecurrence.
Circulation.2001;104:2809–2814.
99.FuhrmannW.Afamilystudyintranspositionof


thegreatvesselsandintricuspidatresia.
Humangenetik.1968;6:148–157.
100.BamfordRN,RoesslerE,BurdineRD,etal.

Loss-of-functionmutationsintheEGF-CFC
geneCFC1areassociatedwithhumanleft-right
lateralitydefects.NatGenet.2000;26:365–369.
101.PiacentiniG,DigilioMC,CapolinoR,etal.
Familialrecurrenceofheartdefectsinsubjects
withcongenitallycorrectedtranspositionofthe
greatarteries.AmJMedGenetA.
2005;137:176–180.
102.NoraJJ,BergK,NoraAH.Cardiovascular
Diseases:Genetics,epidemiolgyandprevention.
OxfordUniversityPressInc.:NewYork;1991.
103.GargV,MuthAN,RansomJF,etal.Mutations
inNOTCH1causeaorticvalvedisease.Nature.
2005;437:270–274.
104.ElliottDA,KirkEP,YeohT,etal.Cardiac
homeoboxgeneNKX2-5mutationsand
congenitalheartdisease:associationswithatrial
septaldefectandhypoplasticleftheart
syndrome.JAmCollCardiol.2003;41:2072–
2076.
105.LoffredoCA,ChokkalingamA,SillAM,etal.
Prevalenceofcongenitalcardiovascular
malformationsamongrelativesofinfantswith
hypoplasticleftheart,coarctationoftheaorta,



×