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Growth Curves of Chinese Children with Androgen Insensitivity Syndrome: A Multicenter Registry Study.
Published in:
Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 771, doi. 10.3390/jpm12050771
By:
- Zhao, Xiu;
- Su, Zhe;
- Chen, Shaoke;
- Wang, Xiumin;
- Yang, Yu;
- Chen, Linqi;
- Liang, Li;
- Liu, Geli;
- Wang, Yi;
- Song, Yanning;
- Fan, Lijun;
- Ren, Xiaoya;
- Gong, Chunxiu
Publication type:
Article
Current Pubertal Development in Chinese Children and the Impact of Overnutrition, Lifestyle, and Perinatal Factors.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 9, p. 2282, doi. 10.1210/clinem/dgad102
By:
- Xinyi Liang;
- Ke Huang;
- Guangping Dong;
- Ruimin Chen;
- Shaoke Chen;
- Rongxiu Zheng;
- Chunlin Wang;
- Haiyan Wei;
- Bingyan Cao;
- Yan Liang;
- Hui Yao;
- Zhe Su;
- Maimaiti, Mireguli;
- Feihong Luo;
- Pin Li;
- Min Zhu;
- Hongwei Du;
- Yu Yang;
- Lanwei Cui;
- Shuting Si
Publication type:
Article
Polyethylene glycol recombinant human growth hormone in Chinese prepubertal slow-growing short children: doses reported in a multicenter real-world study.
Published in:
BMC Endocrine Disorders, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12902-022-01101-8
By:
- Chen, Jiajia;
- Zhong, Yan;
- Wei, Haiyan;
- Chen, Shaoke;
- Su, Zhe;
- Liu, Lijun;
- Liang, Liyang;
- Lu, Ping;
- Chen, Linqi;
- Chen, Ruimin;
- Ni, Shining;
- Wang, Xinli;
- Li, Li;
- Wang, Yunfeng;
- Xu, Xu;
- Xiao, Yanfeng;
- Yao, Hui;
- Liu, Geli;
- Jin, Runming;
- Cao, Bingyan
Publication type:
Article
The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.
Published in:
Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00653-1
By:
- Ma, Yunting;
- Gui, Chunrong;
- Shi, Meizhen;
- Wei, Lilin;
- He, Junfang;
- Xie, Bobo;
- Zheng, Haiyang;
- Lei, Xiaoyun;
- Wei, Xianda;
- Cheng, Zifeng;
- Zhou, Xu;
- Chen, Shaoke;
- Luo, Jiefeng;
- Huang, Yan;
- Gui, Baoheng
Publication type:
Article
Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1901
By:
- Wei, Xianda;
- Huang, Guori;
- Gui, Baoheng;
- Xie, Bobo;
- Chen, Shaoke;
- Fan, Xin;
- Chen, Yujun
Publication type:
Article
Genetic effects have a dominant role on poor responses to infant vaccination to hepatitis B virus.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 5, p. 293, doi. 10.1038/jhg.2013.18
By:
- Yan, Kai;
- Cai, Wenping;
- Cao, Fang;
- Sun, He;
- Chen, Shaoke;
- Xu, Ruiwei;
- Wei, Xin;
- Shi, Xiaoxiang;
- Yan, Weili
Publication type:
Article
Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 218, doi. 10.1002/ajmg.c.31698
By:
- Chen, Fei;
- Yuan, Haiming;
- Wu, Wenyong;
- Chen, Shaoke;
- Yang, Qi;
- Wang, Jin;
- Zhang, Qiang;
- Gui, Baohen;
- Fan, Xin;
- Chen, Ruimin;
- Shen, Yiping
Publication type:
Article
Further defining the critical genes for the 4q21 microdeletion disorder.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 120, doi. 10.1002/ajmg.a.37965
By:
- Hu, Xuyun;
- Chen, Xiaoli;
- Wu, Bingbing;
- Soler, Irene Mademont;
- Chen, Shaoke;
- Shen, Yiping
Publication type:
Article
The Effects of Genetic Variation in <i>FTO</i> rs9939609 on Obesity and Dietary Preferences in Chinese Han Children and Adolescents.
Published in:
PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104574
By:
- Yang, Min;
- Xu, Yuyang;
- Liang, Li;
- Fu, Junfen;
- Xiong, Feng;
- Liu, Geli;
- Gong, Chunxiu;
- Luo, Feihong;
- Chen, Shaoke;
- Xu, Chunxiao;
- Zhang, Dandan;
- Li, Zhengli;
- Zhang, Shuai;
- Zhang, Yan;
- Wang, Hao;
- Zhu, Yimin
Publication type:
Article
Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.
Published in:
2019
By:
- Zhang, Shujie;
- Chen, Shaoke;
- Qin, Haisong;
- Yuan, Haiming;
- Pi, Yalei;
- Yang, Yu;
- Huang, Hui;
- Li, Guimei;
- Sun, Yan;
- Wang, Zhihua;
- Ma, Huamei;
- Fu, Xiaoling;
- Zhou, Ting;
- Wang, Jian;
- Zhang, Huifeng;
- Shen, Yiping
Publication type:
journal article
Regional Disparities in Obesity Among a Heterogeneous Population of Chinese Children and Adolescents.
Published in:
JAMA Network Open, 2021, v. 4, n. 10, p. e2131040, doi. 10.1001/jamanetworkopen.2021.31040
By:
- Zhang, Li;
- Chen, JingNan;
- Zhang, JianWei;
- Wu, Wei;
- Huang, Ke;
- Chen, RuiMin;
- Maimaiti, Mireguli;
- Chen, ShaoKe;
- Cao, BingYan;
- Zhu, Min;
- Wang, ChunLin;
- Su, Zhe;
- Liang, Yan;
- Yao, Hui;
- Wei, HaiYan;
- Zheng, RongXiu;
- Du, HongWei;
- Luo, FeiHong;
- Li, Pin;
- Mo, MinJia
Publication type:
Article
High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor.
Published in:
2020
By:
- Wang, Jinling;
- Qu, Hui‐Qi;
- Huang, Ke;
- Wu, Wei;
- Wang, Chunlin;
- Liang, Li;
- Gong, Chunxiu;
- Xiong, Feng;
- Luo, Feihong;
- Liu, Geli;
- Chen, Shaoke;
- Tian, Lifeng;
- Hakonarson, Hakon;
- Fu, Junfen;
- Qu, Hui-Qi
Publication type:
journal article
A Multicenter Survey of Type I Diabetes Mellitus in Chinese Children.
Published in:
Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.583114
By:
- Hou, Ling;
- Li, Xiuzhen;
- Liu, Li;
- Wei, Hanyang;
- Xiong, Feng;
- Du, Hongwei;
- Yang, Yu;
- Zhang, Huifeng;
- Zhang, Qin;
- Yao, Hui;
- Fu, Junfen;
- Yan, Xiaoli;
- Cui, Lanwei;
- Liu, Geli;
- Li, Tang;
- Chen, Shaoke;
- Li, Pin;
- Xin, Ying;
- Liang, Xiangrong;
- Yu, Baosheng
Publication type:
Article
Preterm Birth and Birth Weight and the Risk of Type 1 Diabetes in Chinese Children.
Published in:
Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.603277
By:
- Huang, Ke;
- Si, Shuting;
- Chen, Ruimin;
- Wang, Chunlin;
- Chen, Shaoke;
- Liang, Yan;
- Yao, Hui;
- Zheng, Rongxiu;
- Liu, Fang;
- Cao, Binyan;
- Su, Zhe;
- Mireguli, Maimaiti;
- Luo, Feihong;
- Li, Pin;
- Du, Hongwei;
- Zhu, Min;
- Yang, Yu;
- Cui, Lanwei;
- Yu, Yunxian;
- Fu, Junfen
Publication type:
Article
Delineation of dual molecular diagnosis in patients with skeletal deformity.
Published in:
2022
By:
- Liu, Lian;
- Sun, Liying;
- Chen, Yujun;
- Wang, Muchuan;
- Yu, Chenxi;
- Huang, Yingzhao;
- Zhao, Sen;
- Du, Huakang;
- Chen, Shaoke;
- Fan, Xin;
- Tian, Wen;
- Wu, Zhihong;
- Qiu, Guixing;
- Zhang, Terry Jianguo;
- Wu, Nan;
- Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group
Publication type:
journal article
Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant Classification.
Published in:
Clinical Chemistry, 2015, v. 61, n. 11, p. 1317, doi. 10.1373/clinchem.2015.240812
By:
- Shaoke Chen;
- Xuyun Hu;
- Yiping Shen
Publication type:
Article
Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study.
Published in:
Frontiers in Pharmacology, 2019, p. N.PAG, doi. 10.3389/fphar.2019.00173
By:
- Zhao, Xiu;
- Song, Yanning;
- Chen, Shaoke;
- Wang, Xiumin;
- Luo, Feihong;
- Yang, Yu;
- Chen, Linqi;
- Chen, Ruimin;
- Chen, Hui;
- Su, Zhe;
- Wu, Di;
- Gong, Chunxiu
Publication type:
Article
Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.
Published in:
Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0274-4
By:
- Shujie Zhang;
- Haisong Qin;
- Jin Wang;
- Luping OuYang;
- Shiyu Luo;
- Chunyun Fu;
- Xin Fan;
- Jiasun Su;
- Rongyu Chen;
- Bobo Xie;
- Xuyun Hu;
- Shaoke Chen;
- Yiping Shen
Publication type:
Article
A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features.
Published in:
2016
By:
- Bobo Xie;
- Xin Fan;
- Yaqin Lei;
- Rongyu Chen;
- Jin Wang;
- Chunyun Fu;
- Shang Yi;
- Jingsi Luo;
- Shujie Zhang;
- Qi Yang;
- Shaoke Chen;
- Yiping Shen
Publication type:
Case Study
de novo interstitial deletions at the 11q23.3-q24.2 region.
Published in:
2016
By:
- Jiasun Su;
- Rongyu Chen;
- Jingsi Luo;
- Xin Fan;
- Chunyun Fu;
- Jin Wang;
- Sheng He;
- Xuyun Hu;
- ShuJie Zhang;
- Shang Yi;
- Shaoke Chen;
- Yiping Shen
Publication type:
Case Study
Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).
Published in:
2014
By:
- Rongyu Chen;
- Chuan Li;
- Bobo Xie;
- Jin Wang;
- Xin Fan;
- Jingsi Luo;
- Xuyun Hu;
- Shaoke Chen;
- Yiping Shen
Publication type:
Case Study
The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.
Published in:
BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00831-9
By:
- Hu, Xuyun;
- Wu, Di;
- Li, Yuchuan;
- Wei, Liya;
- Li, Xiaoqiao;
- Qin, Miao;
- Li, Hongdou;
- Li, Mengting;
- Chen, Shaoke;
- Gong, Chunxiu;
- Shen, Yiping
Publication type:
Article
U-shaped relationship between birth weight and childhood blood pressure in China.
Published in:
2019
By:
- Lai, Chong;
- Hu, Yiyan;
- He, Di;
- Liang, Li;
- Xiong, Feng;
- Liu, Geli;
- Gong, Chunxiu;
- Luo, Feihong;
- Chen, Shaoke;
- Wang, Chunlin;
- Zhu, Yimin
Publication type:
journal article
Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.1056127
By:
- Meizhen Shi;
- Yuying Liang;
- Bobo Xie;
- Xianda Wei;
- Haiyang Zheng;
- Chunrong Gui;
- Rong Huang;
- Xin Fan;
- Chuan Li;
- Xiaojiao Wei;
- Yunting Ma;
- Shaoke Chen;
- Yujun Chen;
- Baoheng Gui
Publication type:
Article
LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies.
Published in:
Human Mutation, 2019, v. 40, n. 12, p. 2221, doi. 10.1002/humu.23863
By:
- Zhang, Li;
- Zhang, Qianqian;
- Tang, Yaohua;
- Cong, Peikuan;
- Ye, Yuhua;
- Chen, Shiping;
- Zhang, Xinhua;
- Chen, Yan;
- Zhu, Baosheng;
- Cai, Wangwei;
- Chen, Shaoke;
- Cai, Ren;
- Guo, Xiaoling;
- Zhang, Chonglin;
- Zhou, Yuqiu;
- Zou, Jie;
- Liu, Yanhui;
- Chen, Biyan;
- Yan, Shanhuo;
- Chen, Yajun
Publication type:
Article
Risk factors for obesity and overweight in Chinese children: a nationwide survey.
Published in:
2022
By:
- Chen, JingNan;
- Jin, Lu;
- Wang, FengLei;
- Huang, Ke;
- Wu, Wei;
- Chen, RuiMin;
- Maimaiti, Mireguli;
- Chen, ShaoKe;
- Cao, BingYan;
- Zhu, Min;
- Wang, ChunLin;
- Su, Zhe;
- Liang, Yan;
- Yao, Hui;
- Wei, HaiYan;
- Zheng, RongXiu;
- Du, HongWei;
- Luo, FeiHong;
- Li, Pin;
- Yu, YunXian
Publication type:
journal article
Construction of a new complete growth reference for urban Chinese children.
Published in:
BMC Public Health, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12889-022-14702-8
By:
- Wu, Wei;
- Chen, JingNan;
- Mo, MinJia;
- Si, Shuting;
- Huang, Ke;
- Chen, RuiMin;
- Maimaiti, Mireguli;
- Chen, ShaoKe;
- Gong, Chunxiu;
- Zhu, Min;
- Wang, ChunLin;
- Su, Zhe;
- Liang, Yan;
- Yao, Hui;
- Wei, HaiYan;
- Zheng, RongXiu;
- Du, HongWei;
- Yang, Yu;
- Luo, FeiHong;
- Li, Pin
Publication type:
Article
EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.
Published in:
BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0165-2
By:
- Chuan Li;
- Rongyu Chen;
- Xin Fan;
- Jingsi Luo;
- Jiale Qian;
- Jin Wang;
- Bobo Xie;
- Yiping Shen;
- Shaoke Chen
Publication type:
Article

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