1 |
Lambrechts D, Devriendt K, Driscoll DA, et al. Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study[J]. J Med Genet, 2005,42(6):519-522.
|
2 |
Gelb B, Brueckner M, Chung W, et al. The congenital heart disease genetic network study: rationale, design, and early results[J]. Circ Res, 2013,112(4):698-706.
|
3 |
Egbe A, Lee S, Ho D, et al. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis[J]. Ann Pediatr Cardiol, 2014,7(2):86-91.
|
4 |
Van der Bom T, Zomer AC, Zwinderman AH, et al. The changing epidemiology of congenital heart disease[J]. Nat Rev Cardiol, 2011,8(1):50-60.
|
5 |
Aburawi EH, Aburawi HE, Bagnall KM, et al. Molecular insight into heart development and congenital heart disease: an update review from the Arab countries[J]. Trends Cardiovasc Med, 2015,25(4):291-301.
|
6 |
Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic[J]. Nat Rev Genet, 2013,14(4):295-300.
|
7 |
Charron P, Arad M, Arbustini E, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardialand Pericardial Diseases[J]. Eur Heart J, 2010,31(22):2715-2726
|
8 |
于宝生. Turner综合征的诊断和治疗[J]. 中华实用儿科杂志, 2013,28(8):561-563
|
9 |
Demirhan O, Tanriverdi N, Yilmaz MB, et al. Report of a new case with pentasomy X and novel clinical findings[J]. Balkan J Med Genet, 2015,18(1):85-92
|
10 |
Chung JH. Cai J, Suskin BG, et al. Whole genome sequencing and integrative genomic analysis approach on two 22q11.2 deletion syndrome family trios for genotype to phenotype correlations[J]. Hum Mutat, 2015,36(8):797-807.
|
11 |
San Agustin JT, Klena N, Granath K, et al. Genetic link between renal birth defects and congenital heart disease[J]. Nat Commun, 2016,7:11103.
|
12 |
Kozel BA, Knutsen RH, Ye L, et al. Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation[J]. J Biol Chem, 2011,286(52):44926-44936.
|
13 |
Lana-Elola E, Watson-Scales S, Slender A, et al. Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel[J]. Elife, 2016,5:e11614.
|
14 |
Ackerman C, Locke AE, Feingold E, et al. An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects[J]. Am J Hum Genet, 2012,91(4):646-659.
|
15 |
Winston JB, Schulkey CE, Chen IB, et al. Complex trait analysis of ventricular septal defects caused by Nkx2-5 mutation[J]. Circ Cardiovasc Genet, 2012,5(3):293-300.
|
16 |
陈存仁,傅世华,陈开宁, 等. Noonan综合征一例[J], 海南医学, 2014,25(1):138-139.
|
17 |
刘晓亮,傅立军. Noonan综合征的诊治进展[J], 临床儿科杂志, 2016,34(1):64-67.
|
18 |
Homsy J, Zaidi S, Shen Y, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies[J]. Science, 2015,350(6265):1262-1266.
|
19 |
Zaidi S, Choi M, Wakimoto H, et al. De novo mutations in histone-modifying genes in congenital heart disease[J]. Nature, 2013,498(7453):220-223.
|
20 |
O′Roak BJ, Vives L, Fu W, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders[J]. Science, 2012,338(6114):1619-1622.
|
21 |
Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome[J]. Nature, 2006,444(7118):444-454.
|
22 |
Fakhro KA, Choi M, Ware SM, et al. Rare copy number variations in congenital heart disease patients identify unique genes in left–right patterning[J]. Proc Natl Acad Sci U S A, 2011,108(7):2915-2920.
|
23 |
Greenway SC, Pereira AC, Lin JC, et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot[J]. Nat Genet, 2009,41(8):931-935.
|
24 |
Hitz MP, Lemieux-Perreault LP, Marshall C, et al. Rare copy number variants contribute to congenital left-sided heart disease[J]. PLoS Genet, 2012, 8(9):e1002903.
|
25 |
Guo T, Chung JH, Wang T, et al. Histone modifier genes alter conotruncal heart phenotypes in 22q11.2 deletion syndrome[J]. Am J Hum Genet. 2015,97(6):869-877.
|
26 |
Silversides CK, Lionel AC, Costain G, et al. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways[J]. PLoS Genet, 2012,8(8):e1002843.
|
27 |
Soemedi R, Topf A, Wilson IJ, et al. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls[J]. Hum Mol Genet, 2012,21(7):1513-1520.
|
28 |
Payne AR, Chang SW, Koenig SN, et al. Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome[J]. Pediatr Cardiol, 2012,33(5):757-763.
|
29 |
Soemedi R, Wilson IJ, Bentham J, et al. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease[J]. Am J Hum Genet, 2012,91(3):489-501.
|