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Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW. Bicuspid aortic valve is heritable. J Am Coll Cardiol 2004; 7;44(1): 138-43.10.1016/j.jacc.2004.03.05015234422CripeLAndelfingerGMartinLJShoonerKBensonDWBicuspid aortic valve is heritableJ Am Coll Cardiol200444113843Open DOISearch in Google Scholar
Atkins SK, Sucosky P. Etiology of bicuspid aortic valve disease: Focus on hemodynamics. World Journal of Cardiology 2014; 6(12): 1227-33.10.4330/wjc.v6.i12.122725548612AtkinsSKSucoskyPEtiology of bicuspid aortic valve disease: Focus on hemodynamicsWorld Journal of Cardiology2014612122733Open DOISearch in Google Scholar
Freeze SL, Landis BJ, Ware SM, Helm BM. Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling. Journal of genetic counseling 2016; 25(6): 1171-78.2755023110.1007/s10897-016-0002-6FreezeSLLandisBJWareSMHelmBMBicuspid Aortic Valve: a Review with Recommendations for Genetic CounselingJournal of genetic counseling2016256117178Search in Google Scholar
Braverman AC, Güven H, Beardslee MA, Makan M, Kates AM, Moon MR. The bicuspid aortic valve. Curr Probl Cardiol 2005; 30(9): 470-22.10.1016/j.cpcardiol.2005.06.002BravermanACGüvenHBeardsleeMAMakanMKatesAMMoonMRThe bicuspid aortic valveCurr Probl Cardiol200530947022Open DOISearch in Google Scholar
Roberts WC. The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol 1970; 26(1): 72-83.10.1016/0002-9149(70)90761-75427836RobertsWCThe congenitally bicuspid aortic valve. A study of 85 autopsy casesAm J Cardiol19702617283Open DOISearch in Google Scholar
Steinberger J, Moller JH, Berry JM, Sinaiko AR. Echocardiographic diagnosis of heart disease in apparently healthy adolescents. Pediatrics 2000; 105(4 Pt 1): 815-18.1074232510.1542/peds.105.4.815SteinbergerJMollerJHBerryJMSinaikoAREchocardiographic diagnosis of heart disease in apparently healthy adolescentsPediatrics20001054 Pt 18151810742325Search in Google Scholar
Mack G, Silberbach M. Aortic and pulmonary stenosis. Pediatr Rev 2000; 21: 79–85.10.1542/pir.21-3-7910702320MackGSilberbachMAortic and pulmonary stenosisPediatr Rev200021798510702320Open DOISearch in Google Scholar
Ward C. Clinical significance of the bicuspid aortic valve. Heart 2000; 83(1): 81-85.1061834110.1136/heart.83.1.81WardCClinical significance of the bicuspid aortic valveHeart20008318185172926710618341Search in Google Scholar
Michelena HI, Desjardins VA, Avierinos JF, Russo A, Nkomo VT, Sundt TM, Pellikka PA, Tajik AJ, Enriquez-Sarano M. Natural history of asymptomatic patients with normally functioning or minimally dysfunctional bicuspid aortic valve in the community. Circulation 2008; 117(21): 2776-84.10.1161/CIRCULATIONAHA.107.74087818506017MichelenaHIDesjardinsVAAvierinosJFRussoANkomoVTSundtTMPellikkaPATajikAJEnriquez-SaranoMNatural history of asymptomatic patients with normally functioning or minimally dysfunctional bicuspid aortic valve in the communityCirculation200811721277684287813318506017Open DOISearch in Google Scholar
Zuberbuhler JR. Aortic stenosis. Clinical Diagnosis in Pediatric Cardiology. London, England: Churchill Livingstone 1981; 75-82.ZuberbuhlerJRAortic stenosisClinical Diagnosis in Pediatric CardiologyLondon, EnglandChurchill Livingstone19817582Search in Google Scholar
Qu XK, Qiu XB, Yuan F, Wang J, Zhao CM, Liu XY, Zhang XL, Li RG, Xu YJ, Hou XM, Fang WY, Liu X, Yang YQ. A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. Am J Cardiol 2014; 15;114(12): 1891-95.10.1016/j.amjcard.2014.09.02825438918QuXKQiuXBYuanFWangJZhaoCMLiuXYZhangXLLiRGXuYJHouXMFangWYLiuXYangYQA novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valveAm J Cardiol20141141218919525438918Open DOISearch in Google Scholar
Bonachea EM, Zender G, White P, Corsmeier D, Newsom D, Fitzgerald-Butt S, Garg V, McBride KL. Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve. BMC Med Genomics 2014; 26; 7:56.10.1186/1755-8794-7-56BonacheaEMZenderGWhitePCorsmeierDNewsomDFitzgerald-ButtSGargVMcBrideKLUse of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valveBMC Med Genomics2014756418166225260786Open DOISearch in Google Scholar
Abdulkareem N, Smelt J, Jahangiri M. Bicuspid aortic valve aortopathy: genetics, pathophysiology and medical therapy. Interact Cardiovasc Thorac Surg 2013; 17(3): 554-59.2372808610.1093/icvts/ivt196AbdulkareemNSmeltJJahangiriMBicuspid aortic valve aortopathy: genetics, pathophysiology and medical therapyInteract Cardiovasc Thorac Surg201317355459374513223728086Search in Google Scholar
Giusti B, Sticchi E, De Cario R, Magi A, Nistri S, Pepe G. Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis. Front Physiol 2017; 8: 612.10.3389/fphys.2017.0061228883797GiustiBSticchiEDe CarioRMagiANistriSPepeGGenetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and DiagnosisFront Physiol20178612557373328883797Open DOISearch in Google Scholar
Prakash SK, Bossé Y, Muehlschlegel JD, Michelena HI, Limongelli G, Della Corte A, Pluchinotta FR, Russo MG, Evangelista A, Benson DW, Body SC, Milewicz DM; BAVCon Investigators. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). J Am Coll Cardiol 2014; 64(8): 832-39.2514552910.1016/j.jacc.2014.04.073PrakashSKBosséYMuehlschlegelJDMichelenaHILimongelliGDella CorteAPluchinottaFRRussoMGEvangelistaABensonDWBodySCMilewiczDMBAVCon Investigators. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium)J Am Coll Cardiol201464883239448561025145529Search in Google Scholar
Girdauskas E, Geist L, Disha K, Kazakbaev I, Groß T, Schulz S, Ungelenk M, Kuntze T, Reichenspurner H, Kurth I. Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results. Eur J Cardiothorac Surg 2017; 52(1): 156-62.10.1093/ejcts/ezx06528387797GirdauskasEGeistLDishaKKazakbaevIGroßTSchulzSUngelenkMKuntzeTReichenspurnerHKurthIGenetic abnormalities in bicuspid aortic valve root phenotype: preliminary resultsEur J Cardiothorac Surg20175211566228387797Open DOISearch in Google Scholar
Lin X, Huo Z, Liu X, Zhang Y, Li L, Zhao H, Yan B, Liu Y, Yang Y, Chen YH. A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. J Hum Genet 2010; 55(10): 662-67.10.1038/jhg.2010.8420631719LinXHuoZLiuXZhangYLiLZhaoHYanBLiuYYangYChenYHA novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defectJ Hum Genet201055106626720631719Open DOISearch in Google Scholar
Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM. Genomic diagnosis for children with intellectual disability and/or developmental delay. Genome Med 2017; 9(1): 43.10.1186/s13073-017-0433-128554332BowlingKMThompsonMLAmaralMDFinnilaCRHiattSMEngelKLCochranJNBrothersKBEastKMGrayDEKelleyWVLambNELoseEJRichCASimmonsSWhittleJSWeaverBTNesmithASMyersRMBarshGSBebinEMCooperGMGenomic diagnosis for children with intellectual disability and/or developmental delayGenome Med20179143544814428554332Open DOISearch in Google Scholar
Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet 2015; 24(8): 2375-89.2557402910.1093/hmg/ddv004Quintero-RiveraFXiQJKeppler-NoreuilKMLeeJHHigginsAWAnchanRMRobertsAESeongISFanXLageKLuLYTaoJHuXBerezneyRGelbBDKampAMoskowitzIPLacroRVLuWMortonCCGusellaJFMaasRLMATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosusHum Mol Genet2015248237589438007725574029Search in Google Scholar
Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD; Centers for Disease Control and Prevention (CDC). Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep 2009; 58 (RR-6): 1-29.19521335ChenBGagnonMShahangianSAndersonNLHowertonDABooneJDCenters for Disease Control and Prevention (CDC). Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and ConditionsMMWR Recomm Rep200958RR-6129Search in Google Scholar
