journal1 ›› 2016, Vol. 24 ›› Issue (10): 1009-1011.DOI: 10.11852/zgetbjzz2016-24-10-01
Received:
2016-09-24
Online:
2016-10-01
Published:
2016-10-01
李辉
作者简介:
李辉(1963-),女,研究室主任,研究员,硕士学位,硕士生导师,主要研究方向为儿童生长发育。
CLC Number:
李辉. 遗传性疾病与儿童生长发育障碍[J]. 中国儿童保健杂志, 2016, 24(10): 1009-1011.
[1] 杨保胜.遗传病分子生物学[M].北京:科学出版社,2012:1-13. [2] 顾鸣敏.人类遗传性疾病基因诊断的回顾与展望[J].诊断学理论与实践,2010,9(5):420-423. [3] Michelson DJ,Shevell MI,Sherr EH,et.al.Evidence Report:Genetic and metabolic testing on children with global developmental delay:Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society[J].Neurology,2011,77(17):1629-35. [4] Cho SY and Jin DK.Guidelines for genetic skeletal dysplasias for pediatricians[J].Ann Pediatr Endocrinol Metab,2015,20:187-191. [5] Romero CJ,Mehta L,Rapaport R.Genetic techniques in the evaluation of short stature[J].Endocrinol Metab Clin N Am,2016,45:345-358. [6] Dewey FE,Grove ME,Pan C,et al.Clinical interpretation and implications of whole-genome sequencing[J].JAMA,2014,311(10):1035-1045. [7] KhouryMJ,EvansJP.A public health perspective on a national precision medicine cohort balancing long-term knowledge generation with early health benefit[J].JAMA,2015,313(21):2117-2118. [8] Hirschhorn JN,Lettre G.Progress in genome-wide association studies of human height[J].Horm Res,2009,71(suppl 2):5-13. [9] Seaver LH,Irons M.ACMG practice guideline:genetic evaluationof short stature[J].Genet Med,2009,11:465-470. [10] 中华医学会儿科学分会内分泌遗传代谢学组,《中华儿科杂志》编辑委员会.中国Prader-Willi综合征诊治专家共识(2015)[J].中华儿科杂志,2015,53(6):419-424. [11] Dauber A,Rosenfeld RG,Hirschhorn JN.Genetic Evaluation of Short Stature[J].J Clin Endocrinol Metab,2014,99:3080-3092. [12] Eggermann T,Buiting Kan,Temple IK.Clinical utility gene card for:Silver-Russell syndrome[J].Eur J Hum Genet,2011,19:e1-3. [13] 刘晓亮,傅立军.Noonan综合征的诊治进展.临床儿科杂志,2016,34(1):64-67. |
[1] | XIANG Wei. Early prevention of dyslipidemia in children and adolescents as well as cardiovascular health in adulthood [J]. Chinese Journal of Child Health Care, 2023, 31(7): 697-702. |
[2] | WU Ting, LI Fei. Adverse factors in early life and the development and prevention of chronic diseases [J]. Chinese Journal of Child Health Care, 2023, 31(7): 703-706. |
[3] | LIU Min, ZHANG Qian, YANG Ting, CHEN Jie, CHEN Li, DAI Ying, JIA Feiyong, WU Lijie, HAO Yan, LI Ling, ZHANG Jie, KE Xiaoyan, YI Mingji, HONG Qi, CHEN Jinjin, FANG Shuanfeng, WANG Yichao, WANG Qi, JIN Chunhua, LI Tingyu. Multi-center survey on serum folic acid in preschool children in China [J]. Chinese Journal of Child Health Care, 2023, 31(7): 713-717. |
[4] | HUO Yanyan, LIU Zhongling, MA Ling, WU Dan, WANG Xiulian, QIU Xiaoyan, DOU Jiaying, REN Yuqian, LI Yicheng, HONG Xia, CHEN Jinjin. Status quo and risk factors for different body proportions of children under 2 years old in the real world [J]. Chinese Journal of Child Health Care, 2023, 31(7): 718-723. |
[5] | YANG Yuru, WANG Hong, XU Shuhong, CAO Yanmei, MENG Xian, GE Dongmei. Association between bone development and vitamin K in children aged 0 to 14 years [J]. Chinese Journal of Child Health Care, 2023, 31(7): 746-750. |
[6] | LI Mingzhu, WANG Jing, XIE Duoshuang. Research progress in the relationship between rapid catch-up growth and childhood obesity in small for gestational age infants [J]. Chinese Journal of Child Health Care, 2023, 31(7): 751-755. |
[7] | CAO Hui, YAN Shuangqin, GUAN Hongyan. Influence of parent-child interaction on early childhood development outcome [J]. Chinese Journal of Child Health Care, 2023, 31(7): 770-774. |
[8] | SUN Yan, GUO Fei , CHEN Zhiyan. Chain mediating role of family home reading and mother-child intimacy in intergenerational transmission of emotion regulation strategy [J]. Chinese Journal of Child Health Care, 2023, 31(6): 606-611. |
[9] | ZHOU Yuanke, LI Yueyue, FANG Bo, SHENG Lulu, WU Wenyi, XI Xuan, LIU Qin. Behavior changes and influencing factors of firstborn children before and after the birth of the second children in a district of Chongqing [J]. Chinese Journal of Child Health Care, 2023, 31(6): 617-622. |
[10] | TIAN Tian, SONG Jia, LI Jing, YUAN Hui, SHEN Mengmeng, DING Rong, ZHU Xiaohua, XU Hongze, HU Youfang. Family rearing environment and behavior problems of the second child aged 4 to 6 years in Jiangsu Province [J]. Chinese Journal of Child Health Care, 2023, 31(6): 623-628. |
[11] | WANG Ziyang, HU Lei, LIU Jintong. Associations between family relationship and children's sleep [J]. Chinese Journal of Child Health Care, 2023, 31(6): 640-644. |
[12] | WANG Dan, HUANG Chuican, FAN Lichun. Research progress in the effects of responsive feeding on sleep of infants and young children [J]. Chinese Journal of Child Health Care, 2023, 31(6): 656-660. |
[13] | YU Yabin, WANG Jianhong, XU Qi, WANG Lei, ZHOU Bo, ZHANG Lili, WANG Xi, WANG Lin. Influencing factors of children with developmental stuttering [J]. Chinese Journal of Child Health Care, 2023, 31(6): 674-677. |
[14] | LIANG Yijia, WU Honglin, HE Xiumei, HU Xiaohong, HE Xiyu. Types and frequencies of gene variants in idiopathic short stature children [J]. Chinese Journal of Child Health Care, 2023, 31(6): 678-683. |
[15] | YING Jiali, CHEN Xiuqin, YANG Chen, HUANG Limei, YU Yan, GAO Xuemei. Moderating role of personality traits in the influence of violent video games on adolescent aggressive behavior [J]. Chinese Journal of Child Health Care, 2023, 31(6): 684-688. |
Viewed | ||||||
Full text |
|
|||||
Abstract |
|
|||||