Cite

Spicer DE, Hsu HH, Co-Vu J, Anderson RH, Fricker FJ. Ventricular septal defect. Orphanet J Rare Dis 2014; 9:144.2552323210.1186/s13023-014-0144-2SpicerDEHsuHHCo-VuJAndersonRHFrickerFJVentricular septal defectOrphanet J Rare Dis20149144Search in Google Scholar

Soto B, Becker AE, Moulaert AJ, Lie JT, Anderson RH. Classification of ventricular septal defects. Br Heart J 1980; 43:332–343.10.1136/hrt.43.3.3327437181SotoBBeckerAEMoulaertAJLieJTAndersonRHClassification of ventricular septal defectsBr Heart J198043332343Open DOISearch in Google Scholar

Minette MS, Sahn DJ. Ventricular septal defects. Circulation 2016; 114(20): 2190-97. Erratum in: Circulation 2007; 115:e205.MinetteMSSahnDJVentricular septal defectsCirculation201611420219097Erratum in: Circulation 2007115e20510.1161/CIRCULATIONAHA.106.618124Search in Google Scholar

Penny DJ, Vick GW 3rd. Ventricular septal defect. Lancet 2011; 377: 1103–12.10.1016/S0140-6736(10)61339-621349577PennyDJVickGWVentricular septal defectLancet2011377110312Open DOISearch in Google Scholar

Dakkak W, Bhimji SS. Ventricular Septal Defect. StatPearls (Internet) 2017, StatPearls Publishing, Treasure Island, Forida, United States. Available from http://www.ncbi.nlm.nih.gov/books/NBK470330/DakkakWBhimjiSSVentricular Septal DefectStatPearls (Internet)2017StatPearls PublishingTreasure Island, Forida, United StatesAvailable fromhttp://www.ncbi.nlm.nih.gov/books/NBK470330/Search in Google Scholar

Du ZD, Roguin N, Barak M, Bihari SG, Ben-Elisha M. High prevalence of muscular ventricular septal defect in preterm neonates. Am J Cardiol 1996; 78: 1183-85.10.1016/S0002-9149(96)00590-58914891DuZDRoguinNBarakMBihariSGBen-ElishaMHigh prevalence of muscular ventricular septal defect in preterm neonatesAm J Cardiol199678118385Open DOISearch in Google Scholar

Corno A (2003). Atrioventricular septal defect. Congenital Heart Defects. Springer-Verlag Berlin Heidelberg 2003; 25–32.CornoA2003Atrioventricular septal defectCongenital Heart DefectsSpringer-Verlag Berlin Heidelberg200325–3210.1007/978-3-642-57358-3Search in Google Scholar

Hoffman JI. Congenital heart disease: incidence and inheritance. Pediatr Clin North Am 1990; 37(1): 25-43.10.1016/S0031-3955(16)36830-42408002HoffmanJICongenital heart disease: incidence and inheritancePediatr Clin North Am19903712543Open DOISearch in Google Scholar

Janvier A, Okah F, Farlow B, Lantos JD. An infant with trisomy 18 and a ventricular septal defect. Pediatrics 2011; 127(4):754-59.10.1542/peds.2010-1971JanvierAOkahFFarlowBLantosJDAn infant with trisomy 18 and a ventricular septal defectPediatrics201112747545921402635Open DOISearch in Google Scholar

Hazan F, Aykut A, Unalp A, Mese T, Unal N, Onay H, Ozkinay F. Ventricular septal defect in Crouzon Syndrome: case report. Genet Couns 2012; 23(4):519-522.23431754HazanFAykutAUnalpAMeseTUnalNOnayHOzkinayFVentricular septal defect in Crouzon Syndrome: case reportGenet Couns2012234519522Search in Google Scholar

Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S. Mutations in the sarcomere gene MYH7 in Ebstein anomaly. Circ Cardiovasc Genet 2011; 4(1): 43-50.2112720210.1161/CIRCGENETICS.110.957985PostmaAVvan EngelenKvan de MeerakkerJRahmanTProbstSBaarsMJBauerUPickardtTSperlingSRBergerFMoormanAFMulderBJThierfelderLKeavneyBGoodshipJKlaassenSMutations in the sarcomere gene MYH7 in Ebstein anomalyCirc Cardiovasc Genet201141435021127202Search in Google Scholar

Bettinelli AL, Mulder TJ, Funke BH, Lafferty KA, Longo SA, Niyazov DM. Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. Am J Med Genet A 2013; 161A(12):3187-90.23956225BettinelliALMulderTJFunkeBHLaffertyKALongoSANiyazovDMFamilial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutationAm J Med Genet A2013161A1231879010.1002/ajmg.a.3618223956225Search in Google Scholar

Wang J, Xie X, Zhou S, Huang G, Ma X, Suo P, Zhou S, Wang B, Ma X. The study of copy number variations in the regions of NOTCH1 among Chinese VSD and TOF patients. Int J Cardiol 2011; 147(3): 444-46.10.1016/j.ijcard.2010.04.029WangJXieXZhouSHuangGMaXSuoPZhouSWangBMaXThe study of copy number variations in the regions of NOTCH1 among Chinese VSD and TOF patientsInt J Cardiol201114734444621277031Open DOISearch in Google Scholar

Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet 2009; 18(5):861-71.1906460910.1093/hmg/ddn411MohapatraBCaseyBLiHHo-DawsonTSmithLFernbachSDMolinariLNieshSRJefferiesJLCraigenWJTowbinJABelmontJWWareSMIdentification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformationsHum Mol Genet200918586171272222619064609Search in Google Scholar

Czeizel A. Familial situs inversus and congenital heart defects. Am J Med Genet 1987; 28(1):227-28.367411310.1002/ajmg.1320280134CzeizelAFamilial situs inversus and congenital heart defectsAm J Med Genet1987281227283674113Search in Google Scholar

Deng X, Pan H, Wang J, Wang B, Cheng Z, Cheng L, Zhao L, Li H, Ma X. Functional Analysis of Two Novel Mutations in TWIST1 Protein Motifs Found in Ventricular Septal Defect Patients. Pediatr Cardiol 2015; 36(8):1602-09.10.1007/s00246-015-1202-925981568DengXPanHWangJWangBChengZChengLZhaoLLiHMaXFunctional Analysis of Two Novel Mutations in TWIST1 Protein Motifs Found in Ventricular Septal Defect PatientsPediatr Cardiol201536816020925981568Open DOISearch in Google Scholar

Zhu X, Deng X, Huang G, Wang J, Yang J, Chen S, Ma X, Wang B. A novel mutation of Hyaluronan synthase 2 gene in Chinese children with ventricular septal defect. PLoS One 2014; 9(2): e87437.2455836810.1371/journal.pone.0087437ZhuXDengXHuangGWangJYangJChenSMaXWangBA novel mutation of Hyaluronan synthase 2 gene in Chinese children with ventricular septal defectPLoS One201492e87437392812024558368Search in Google Scholar

Wang J, Mao JH, Ding KK, Xu WJ, Liu XY, Qiu XB, Li RG, Qu XK, Xu YJ, Huang RT, Xue S, Yang YQ. A novel NKX2.6 mutation associated with congenital ventricular septal defect. Pediatr Cardiol 2015; 36(3): 646-656.10.1007/s00246-014-1060-x25380965WangJMaoJHDingKKXuWJLiuXYQiuXBLiRGQuXKXuYJHuangRTXueSYangYQA novel NKX2.6 mutation associated with congenital ventricular septal defectPediatr Cardiol201536364665625380965Open DOISearch in Google Scholar

Zheng GF, Wei D, Zhao H, Zhou N, Yang YQ, Liu XY. A novel GATA6 mutation associated with congenital ventricular septal defect. Int J Mol Med 2012; 29:1065-1071.22407241ZhengGFWeiDZhaoHZhouNYangYQLiuXYA novel GATA6 mutation associated with congenital ventricular septal defectInt J Mol Med20122910651071Search in Google Scholar

Xuan C, Jia KG, Wang BB, Bai XY, Gao G, Yang Q, Wang XL, Liu XC, Ma X, He GW. Identification of two novel mutations of the HOMEZ gene in Chinese patients with isolated ventricular septal defect. Genet Test Mol Biomarkers 2013; 17(5): 390-94.10.1089/gtmb.2012.043523574532XuanCJiaKGWangBBBaiXYGaoGYangQWangXLLiuXCMaXHeGWIdentification of two novel mutations of the HOMEZ gene in Chinese patients with isolated ventricular septal defectGenet Test Mol Biomarkers201317539094363415423574532Open DOISearch in Google Scholar

Cheng Z, Lib L, Li Z, Liu M, Yan J, et al. (2012) Two novel HAND1 mutations in Chinese patients with ventricular septal defect. Clin Chim Acta 413:675-677.2203282510.1016/j.cca.2011.10.014ChengZLibLLiZLiuMYanJet al2012Two novel HAND1 mutations in Chinese patients with ventricular septal defectClin Chim Acta41367567722032825Search in Google Scholar

Wang B, Yan J, Mi R, Zhou S, Xie X, Wang J, Ma X. Forkhead box H1 (FOXH1) sequence variants in ventricular septal defect. Int J Cardiol 2010; 145(1): 83-85.1952502110.1016/j.ijcard.2009.05.030WangBYanJMiRZhouSXieXWangJMaXForkhead box H1 (FOXH1) sequence variants in ventricular septal defectInt J Cardiol20101451838519525021Search in Google Scholar

Pang S, Liu Y, Zhao Z, Huang W, Chen D, Yan B. Novel and functional sequence variants within the TBX2 gene promoter in ventricular septal defects. Biochimie 2013; 95(9):1807-1809.10.1016/j.biochi.2013.05.00723727221PangSLiuYZhaoZHuangWChenDYanBNovel and functional sequence variants within the TBX2 gene promoter in ventricular septal defectsBiochimie20139591807180923727221Open DOISearch in Google Scholar

Sun YM, Wang J, Qiu XB, Yuan F, Li RG, et al. (2016) A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis. G3 (Bethesda) 2016; 6:987-92.SunYMWangJQiuXBYuanFLiRGet al2016A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary StenosisG3 (Bethesda) 2016;69879210.1534/g3.115.026518Search in Google Scholar

Yang SW, Hitz MP, Andelfinger G. Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier. Cardiol Young 2010; 20(5):574-76.10.1017/S1047951110000715YangSWHitzMPAndelfingerGVentricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrierCardiol Young201020557476Open DOISearch in Google Scholar

Wang B, Li L, Xie X, Wang J, Yan J, Mu Y, Ma X. Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect. Int J Cardiol 2010; 145(2): 224-26.10.1016/j.ijcard.2009.05.067WangBLiLXieXWangJYanJMuYMaXGenetic variation of SAL-Like 4 (SALL4) in ventricular septal defectInt J Cardiol2010145222426Open DOISearch in Google Scholar

Wang B, Yan J, Peng Z, Wang J, Liu S, et al. (2011). Teratocarcinoma-derived growth factor 1 (TDGF1) sequence variants in patients with congenital heart defect. Int J Cardiol 2011; 146(2): 225-27.WangBYanJPengZWangJLiuSet al2011Teratocarcinoma-derived growth factor 1 (TDGF1) sequence variants in patients with congenital heart defectInt J Cardiol 2011;14622252710.1016/j.ijcard.2009.08.046Search in Google Scholar

Xiao J, Kang G, Wang J, Li T, Chen J, Wang J, Li W, Wang B. A novel variation of GDF3 in Chinese Han children with a broad phenotypic spectrum of non-syndromic CHDs. Cardiol Young 2015; 25(7):1263-67.10.1017/S1047951114002170XiaoJKangGWangJLiTChenJWangJLiWWangBA novel variation of GDF3 in Chinese Han children with a broad phenotypic spectrum of non-syndromic CHDsCardiol Young2015257126367Open DOISearch in Google Scholar

Lee CL, Hsieh KS, Chen YL, Shiue YL. Identification of candidate genes for congenital ventricular septal defects with HSA22q11 loss of heterozygosity. Rev Esp Cardiol 2009; 62:263-272.19268070LeeCLHsiehKSChenYLShiueYLIdentification of candidate genes for congenital ventricular septal defects with HSA22q11 loss of heterozygosityRev Esp Cardiol20096226327210.1016/S1885-5857(09)71555-5Search in Google Scholar

Shen MM. Nodal signaling: developmental roles and regulation. Development 2007; 134(6): 1023-34.1728725510.1242/dev.000166ShenMMNodal signaling: developmental roles and regulationDevelopment2007134610233417287255Search in Google Scholar

Su D, Li Q, Guan L, Gao X, Zhang H, Dandan E, Zhang L, Ma X. Down-regulation of EBAF in the heart with ventricular septal defects and its regulation by histone acetyltransferase p300 and transcription factors smad2 and cited2. Biochim Biophys Acta 2013; 1832(12): 2145-2152.10.1016/j.bbadis.2013.07.01323899608SuDLiQGuanLGaoXZhangHDandanEZhangLMaXDown-regulation of EBAF in the heart with ventricular septal defects and its regulation by histone acetyltransferase p300 and transcription factors smad2 and cited2Biochim Biophys Acta20131832122145215223899608Open DOISearch in Google Scholar

Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. Seattle (WA): University of Washington, Seattle; GeneReviews 1993-2018; Available from: http://www.ncbi.nlm.nih.gov/pubmed/20301295AdamMPArdingerHHPagonRAWallaceSEBeanLJHStephensKAmemiyaASeattle (WA)University of Washington, SeattleGeneReviews1993-2018Available fromhttp://www.ncbi.nlm.nih.gov/pubmed/20301295Search 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): 1-37; quiz CE-1-4.19521335ChenBGagnonMShahangianSAndersonNLHowertonDABooneJDCenters for Disease Control and Prevention (CDC). Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and ConditionsMMWR Recomm Rep200958RR-6137quiz CE-1-4Search in Google Scholar

eISSN:
2564-615X
Idioma:
Inglés
Calendario de la edición:
4 veces al año
Temas de la revista:
Life Sciences, Genetics, Biotechnology, Bioinformatics, other