[1] |
中华人民共和国卫生部.中国出生缺陷防治报告(2012)[J].中国当代医药,2012, 19(28): 1.
|
[2] |
刘嘉茵,吴柏林. 现代遗传学/基因组学在生殖医学领域的应用展望[J].国际生殖健康/计划生育杂志,2014, 33(3): 149-153.
|
[3] |
周天津,罗亚玲,周雪晴,等.中国先天性心脏病危险因素的Meta分析[J].循证医学,2016, 4(9): 1240-1248.
|
[4] |
吴小青,李英,谢晓蕊,等. 3 240名高龄孕妇胎儿染色体核型分析[J].中华医学遗传学杂志,2014, 31(2): 255-257.
|
[5] |
Trevisan P, Rosa RF, Koshiyama DB, et al. Congenital heart disease and chromossomopathies detected by the karyotype [J]. Rev Paul Pediatr, 2014, 32(2): 262-271.
|
[6] |
Dykes JC, Al-mousily MF, Abuchaibe EC, et al. The incidence of chromosome abnormalities in neonates with structural heart disease [J]. Heart, 2016, 102(8): 634-647.
|
[7] |
蔡美英,徐两蒲,黄海龙,等. 325例先天性心脏病胎儿的染色体核型分析[J].海峡预防医学杂志,2015, 21(4): 4-6.
|
[8] |
Koczkowska M, Wierzba J, Šmigiel R, et al. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome[J]. J Appl Genet, 2017, 58(1): 93-98.
|
[9] |
梁玥宏,田卉,任景春.先天性心脏畸形22q11.2微缺失研究进展[J].继续医学教育,2013, 27(11): 38-41.
|
[10] |
Grassi MS, Jacob CM, Kulikowski LD, et al. Congenital heart disease as a warning sign for the diagnosis of the 22q11.2 deletion [J]. Arq Bras Cardiol, 2014, 103(5): 382-390.
|
[11] |
秦玉峰,解春红,杨建滨,等. 22q11微缺失综合征与先天性心脏病的关系[J]. 中华心血管病杂志,2011, 39(7): 631-635.
|
[12] |
张璟,黄国英,倪祖德,等. 4 046例染色体检查结果与先天性心脏病关系的回顾性分析[J].中国循证儿科杂志,2009, 4(2): 128-134.
|
[13] |
Lee MY, Won HS, Baek JW, et al. Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome [J]. Obstet Gynecol Sci, 2014, 57(1): 11-16.
|
[14] |
American College of Obstetricians and Gynecologists Committee on Genetics.Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis[J]. Obstet Gynecol, 2009, 114(5): 1161-1163.
|
[15] |
American College of Obstetricians and Gynecologists Committee on Genetics.Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis [J]. Obstet Gynecol, 2013, 122(6): 1374-1377.
|
[16] |
Geddes GC, Butterly M, Sajan I. FISH for 22q11.2 deletion not cost-effective for infants with congenital heart disease with microarray [J]. Pediatr Cardiol, 2015, 36(3): 531-536.
|
[17] |
蔡莉蓉,戚红,杨锴,等. 应用高通量测序的染色体组拷贝数分析技术分析先天性心脏病胎儿基因组拷贝数变异 [J]. 中国优生与遗传杂志,2016, 24(1): 9-17.
|
[18] |
Prendiville T, Jay PY, Pu WT, et al. Insights into the genetic structure of congenital heart disease from human and murine studieson monogenic disorders [J]. Cold Spring Harb Perspect Med, 2014, 4(10): 1-14.
|
[19] |
Tong YF. Mutations of NKX2.5 and GATA4 genes in the development of congenital heart disease [J]. Gene, 2016, 588(1): 86-94.
|
[20] |
Zhang Y, Ai F, Zheng J, et al. Associations of GATA4 genetic mutations with the risk of congenital heart disease: a Meta-analysis [J]. Medicine (Baltimore), 2017, 96(18): 1-6.
|
[21] |
Zhu T, Qiao L, Wang Q, et al. T-box family of transcription factor-TBX5, insights in development and disease [J]. Am J Transl Res, 2017, 9(2): 442-453.
|
[22] |
陈雪,闰有圣,郝胜菊.先天性心脏病分子遗传学研究进展[J].中国优生优育,2013, 19(7): 583-586.
|
[23] |
Lebreiro A, Martins E, Cruz C. Marfan syndrome: clinical manifestations, pathophysiology and new outlook on drug therapy [J]. Rev Port Cardiol, 2010, 29(6): 1021-1036.
|
[24] |
Gonzales EA. Marfan syndrome [J]. J Am Acad Nune Pract, 2009, 21(12): 663-670.
|
[25] |
Nguyen TQ, Saitoh M, Trinh HT, et al. Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome [J]. Congenit Anom (Kyoto), 2016, 56(5): 209-216.
|
[26] |
Siegfried A, Cances C, Denuelle M, et al. Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature [J]. Am J Med Genet A, 2017, 173(4): 1061-1065.
|
[27] |
Brennan A, Kesavan A. Novel heterozygous mutations in JAG1 and NOTCH2 genes in a neonatal patient with Alagille syndrome [J]. Case Rep Pediatr, 2017: 1368189.
|
[28] |
Busa T, Legendre M, Bauge M, et al. Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome [J]. Prenat Diagn, 2016, 36(6): 561-567.
|
[29] |
Yasuda K, Morihana E, Fusazaki N, et al. Cardio vascular malformations in CHARGE syndrome with DiGeorge phenotype: two case reports [J]. Case Rep Pediatr, 2016: 8013530.
|
[30] |
Bompadre V, Mattioli-Lewis T, Yassir WK, et al. A comparison of the functional health of children with Costello syndrome in 1999 and in 2015 [J/OL]. Am J Med Genet A, (2017)[2017-06-10]. published online ahead of print May 9, 2017]
URL
|
[31] |
Bertola D, Buscarilli M, Stabley DL, et al. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp [J]. Am J Med Genet A, 2017, 173(5): 1309-1318.
|
[32] |
Ryan AK, Bartlett K, Clayton P, et al. Smith-Lemli-Opitz syndrome: a varibale clinical and biochemical phenotype [J]. J Med Genet, 1998, 35(7): 558-565.
|
[33] |
Rose V, Gold RJ, Lindsay G, et al. A possible increase in the incidence of congenital heart defects among the offspring of affected parents [J]. J Am Coll Cardiol, 1985, 6(2): 376-382.
|
[34] |
Nora JJ, Nora AH. Update on counseling the family with a first-degree relative with a congenital heart defect [J]. Am J Med Genet, 1988, 29(1): 137-142.
|
[35] |
Whittemore R. Maternal transmission of congenital heart disease [J]. Am J Cardiol, 1988, 61(6): 499-500.
|
[36] |
Burn J, Brennan P, Little J, et al. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study [J]. Lancet, 1998, 351(9099): 311-316.
|
[37] |
Gill HK, Splitt M, Sharland GK, et al. Patterns of recurrence of congenital heart disease: an analysis of 6 640 consecutive pregnanciesevaluated by detailed fetal echocardiography [J]. J Am Coll Cardiol, 2003, 42(5): 923-929.
|
[38] |
Peyvandi S, Ingall E, Woyciechowski S, et al. Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1 620 families[J]. Am J Med Genet A, 2014, 164A(6): 1490-1495.
|