1 |
Ailes EC, Gilboa SM, Riehle-Colarusso T, et al. Prenatal diagnosis of nonsyndromic congenital heart defects [J]. Prenat Diagn, 2014, 34(3): 214-222.
|
2 |
阮雪华, 孙晶, 孙锟. 环境相关因素与先天性心脏病研究进展 [J]. 临床儿科杂志, 2023, 41(3): 229-234.
|
3 |
Nees SN, Chung WK. The genetics of isolated congenital heart disease [J]. Am J Med Genet C Semin Med Genet, 2020, 184(1): 97-106.
|
4 |
Yi T, Hao X, Sun H, et al. Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting [J]. ESC Heart Fail, 2023, 10(2): 917-930.
|
5 |
Vedel C, Hjortshoj TD, Jorgensen DS, et al. Prevalence of chromosomal disorders in cases with congenital heart defect: registry-based study from Denmark between 2008 and 2018 [J]. Ultrasound Obstet Gynecol, 2023, 61(1): 40-48.
|
6 |
Ehrlich L, Prakash SK. Copy-number variation in congenital heart disease [J]. Curr Opin Genet Dev, 2022, 77: 101986.
|
7 |
Diab N S, Barish S, Dong W, et al. Molecular genetics and complex inheritance of congenital heart disease [J]. Genes (Basel), 2021, 12(7).
|
8 |
周晓伟, 李会芳. 全基因组外显子测序技术在2型糖尿病中的应用 [J/OL]. 中华临床医师杂志(电子版), 2018, 12(6): 354-357.
|
9 |
Nuytemans K, Vance JM. Whole exome sequencing[J]. Rinsho Shinkeigaku, 2010, 50(11): 952-955.
|
10 |
Sun H, Zhang S, Wang J, et al. Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot [J]. BMC Med Genomics, 2022, 15(1): 40.
|
11 |
Hong N, Zhang E, Xie H, et al. The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling [J]. Cell Death Dis, 2021, 12(4): 393.
|
12 |
Pan Y, Liu M, Zhang S, et al. Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot [J]. J Thorac Dis, 2022, 14(8): 3008-3015.
|
13 |
Alrayes N, Mallah BA, Issa NM, et al. Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot [J]. Gene, 2023, 851: 146909.
|
14 |
Tu P, Sun H, Zhang X, et al. Diverse cardiac phenotypes among different carriers of the same MYH7 splicing variant allele (c.732+1G>A) from a family [J]. BMC Med Genomics, 2022, 15(1): 36.
|
15 |
涂鹏, 谷孝艳, 张晓航, 等. 室间隔缺损胎儿产前超声及遗传学检查结果分析 [J]. 临床超声医学杂志, 2020, 22(11): 806-811.
|
16 |
Sharma A, Wasson LK, Willcox JA, et al. GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm [J]. Elife, 2020, 9.
|
17 |
Allen HL, Flanagan SE, Shaw-Smith C, et al. GATA6 haploinsufficiency causes pancreatic agenesis in humans [J]. Nat Genet, 2011, 44(1): 20-22.
|
18 |
Skoric-Milosavljevic D, Tjong F, Barc J, et al. GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum [J]. Am J Med Genet A. 2019, 179(9): 1836-1845.
|
19 |
Ke ZP, Zhang GF, Guo YH, et al. A novel PRRX1 loss-of-function variation contributing to familial atrial fibrillation and congenital patent ductus arteriosus [J]. Genet Mol Biol, 2022, 45(2): e20210378.
|
20 |
Blue GM, Kirk EP, Sholler GF, et al. Congenital heart disease: current knowledge about causes and inheritance [J]. Med J Aust, 2012, 197(3): 155-159.
|
21 |
Barriot R, Breckpot J, Thienpont B, et al. Collaboratively charting the gene-to-phenotype network of human congenital heart defects [J]. Genome Med. 2010, 2(3): 16.
|
22 |
Aoki Y, Niihori T, Inoue S, et al. Recent advances in RASopathies [J]. J Hum Genet, 2016, 61(1): 33-39.
|
23 |
Sun L, Xie YM, Wang SS, et al. Cardiovascular abnormalities and gene mutations in Children With Noonan Syndrome [J]. Front Genet, 2022, 13: 915129.
|
24 |
Bossert T, Walther T, Gummert J, et al. Cardiac malformations associated with the Holt-Oram syndrome--report on a family and review of the literature [J]. Thorac Cardiovasc Surg, 2002, 50(5): 312-314.
|
25 |
Basson CT, Bachinsky DR, Lin RC, et al. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome [J]. Nat Genet, 1997, 15(1): 30-35.
|
26 |
Wang DG, Dong XS, Xiong Y, et al. Identification of a novel TBX5 c.755 +1 G>A variant and related pathogenesis in a family with Holt-Oram syndrome [J]. Am J Med Genet A, 2022, 188(1): 58-70.
|
27 |
Azab B, Aburizeg D, Ji W, et al. TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects [J]. Mol Med Rep, 2022, 25(6).
|
28 |
He GN, Wang XY, Kang M, et al. Prenatal diagnosis of holt-oram syndrome with a novel mutation of TBX5 gene: A case report [J]. Front Pediatr, 2021, 9: 737633.
|
29 |
Prajapati K, Pathak J, Sailor V, et al. Late survival in Ellis-van creveld syndrome with common single atrium [J]. BMJ Case Rep, 2021, 14(3).
|
30 |
Wang J, Wang X, Jia Y, et al. A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome [J]. Mol Genet Genomic Med, 2023: e2183.
|
31 |
Liu F, Liu X, Xu Z, et al. Molecular mechanisms of Ellis‑van Creveld gene variations in ventricular septal defect[J]. Mol Med Rep, 2018, 17(1): 1527-1536.
|
32 |
杨滢, 王皖骏, 朱湘玉, 等. 一例眼-面-心-牙综合征家系的遗传学分析及产前诊断并文献复习 [J]. 中华围产医学杂志, 2021, 24(6): 434-443.
|
33 |
杨智博, 古秋梅, 陈正举, 等. BCOR基因致眼面心牙综合征的系统评价 [J]. 中国循证医学杂志, 2022, 22(11): 1279-1286.
|
34 |
Tanaka K, Kato A, Angelocci C, et al. A potential molecular pathogenesis of cardiac/laterality defects in Oculo-Facio-Cardio-Dental syndrome [J]. Dev Biol, 2014, 387(1): 28-36.
|
35 |
Fridman H, Bormans C, Einhorn M, et al. Performance comparison: exome sequencing as a single test replacing Sanger sequencing [J]. Mol Genet Genomics, 2021, 296(3): 653-663.
|
36 |
Wright CF, Fitzpatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children [J]. Nat Rev Genet, 2018, 19(5): 253-268.
|
37 |
Yasuhara J, Garg V. Genetics of congenital heart disease: a narrative review of recent advances and clinical implications [J]. Transl Pediatr, 2021, 10(9): 2366-2386.
|
38 |
Gonzalez-Teran B, Pittman M, Felix F, et al. Transcription factor protein interactomes reveal genetic determinants in heart disease [J]. Cell, 2022, 185(5): 794-814.
|