| 1. |
Chung WK, Roberts TPL, Sherr EH, et al. 16p11.2 deletion syndrome. Current Opinion in Genetics & Development, 2021, (68-): 49-56.
|
| 2. |
Hannah MG, Cathy F, Dan R, et al. Copy number variations in neurodevelopmental disorders. Progress in Neurobiology, 2012, 99(1): 81-91.
|
| 3. |
刘添铭, 胡培. 16p11. 2微缺失综合征胎儿产前超声表现1例. 中国临床医学影像杂志, 2023, 34(7): 528-529.
|
| 4. |
孙海祥, 高荣荣. 一例新发16p11. 2微缺失综合征的遗传学分析. 中国小儿急救医学, 2022, 29(7): 570-572.
|
| 5. |
谢梅花, 陈静怡. 产前诊断16p11. 2微缺失综合征胎儿一例. 中华医学遗传学杂志, 2022, 39(9): 1050.
|
| 6. |
王会松, 邓劼. 染色体16p11. 2微缺失相关癫痫的临床与遗传学特点分析. 中华儿科杂志, 2022, 60(4): 339-344.
|
| 7. |
蔡美英, 黄海龙. 16p11. 2微缺失胎儿的产前超声表现及遗传学分析. 中华医学遗传学杂志, 2022, 39(2): 227-230.
|
| 8. |
叶园珍, 麦嘉卉. 以癫痫为主要表型的16p11. 2微缺失综合征11例病例系列报告. 中国循证儿科杂志, 2022, 17(2): 144-148.
|
| 9. |
赖重媛, 陈瑞华. 16p11. 2微缺失相关儿童癫痫的临床表型与遗传学特征分析. 中国当代儿科杂志, 2022, 24(5): 585-590.
|
| 10. |
傅婉玉, 王俊育. 16p11. 2微缺失/微重复胎儿的产前诊断和遗传学分析. 生殖医学杂志, 2022, 31(8): 1099-1104.
|
| 11. |
王翠霞, 王艳飞. 一个16p11. 2微缺失综合征家系的产前诊断及遗传学分析. 中国优生与遗传杂志, 2022, 30(8): 1440-1443.
|
| 12. |
禚志红, 王瑶. 16p11. 2微缺失仅表现发作性运动诱发性运动障碍1例. 中华实用儿科临床杂志, 2021, 36(7): 548-550.
|
| 13. |
蒋萍, 张桐. 新生突变的16p11. 2微缺失综合征(附1例报告及文献复习). 中国临床神经科学, 2021, 29(3): 303-309.
|
| 14. |
徐忠森. 疑似与16p11. 2微缺失综合征相关的糖尿病1例. 中国乡村医药, 2021, 28(11): 48-49.
|
| 15. |
蔺朋武, 孟照琰. 2例16p11. 2微缺失综合征家系的临床表型及分子遗传学分析. 兰州大学学报(医学版), 2021, 47(5): 81-85.
|
| 16. |
王会松. 染色体16p11.2微缺失相关癫痫的临床与遗传学特点分析: 第九届CAAE国际癫痫论坛. 中国福建厦门, 2021.
|
| 17. |
庄建龙, 王元白. 一例新发16p11. 2微缺失患儿的分子遗传学分析. 中华医学遗传学杂志, 2020, 37(11): 1283-1286.
|
| 18. |
姚妍怡, 刘念. 3例16p11. 2微缺失综合征胎儿的产前诊断及其产前超声分析. 中国现代医学杂志, 2019, 29(19): 33-38.
|
| 19. |
Dell'edera D, Dilucca C, Allegretti A, et al. 16p11.2 microdeletion syndrome: a case report. Journal of Medical Case Reports, 2018, 12(1): 90.
|
| 20. |
Bachmann-Gagescu R, Mefford H, Cowan C, et al. Recurrent 200-kb deletions of 16p11. 2 that include the SH2B1 gene are associated with developmental delay and obesity. Genetics in Medicine, 2010, 12(10): 641-647.
|
| 21. |
Genesio R, Maruotti GM, Saccone G, et al. Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report. Clinical Case Reports, 2018, 6(4): 592-595.
|
| 22. |
Loviglio MN, Arbogast T, Jnch AE, et al. The immune signaling adaptor LAT Contributes to the neuroanatomical phenotype of 16p11. 2 BP2-BP3 CNVs. The American Journal of Human Genetics, 2017, 101(4): 564-577.
|
| 23. |
Tabet AC, Pilorge M, DelormER, et al. Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. European Journal of Human Genetics, 2012, 20(5): 594-596.
|
