Works matching AU Cao, Zongfu

Results: 25

Folic acid supplementation, preconception body mass index, and preterm delivery: findings from the preconception cohort data in a Chinese rural population.

Published in:

2015

By:

Yuanyuan Wang;
Zongfu Cao;
Zuoqi Peng;
Xiaona Xin;
Ya Zhang;
Ying Yang;
Yuan He;
Jihong Xu;
Xu Ma;
Wang, Yuanyuan;
Cao, Zongfu;
Peng, Zuoqi;
Xin, Xiaona;
Zhang, Ya;
Yang, Ying;
He, Yuan;
Xu, Jihong;
Ma, Xu

Publication type:

journal article

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.

Published in:

European Journal of Medical Research, 2024, v. 29, n. 1, p. 1, doi. 10.1186/s40001-024-02115-9

By:

Yin, Zhe;
Zhang, Chuan;
Dong, Rui;
Zhang, Xinyuan;
Song, Yingnan;
Hao, Shengju;
Gai, Zhongtao;
Zhou, Bingbo;
Hui, Ling;
Wang, Shifan;
Xue, Huiqin;
Cao, Zongfu;
Liu, Yi;
Ma, Xu

Publication type:

Article

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.576235

By:

Luo, Minna;
He, Ruida;
Lin, Zaisheng;
Shen, Yue;
Zhang, Guangyu;
Cao, Zongfu;
Lu, Chao;
Meng, Dan;
Zhang, Jing;
Ma, Xu;
Cao, Muqing

Publication type:

Article

RAF dimer inhibition enhances the antitumor activity of MEK inhibitors in K‐RAS mutant tumors.

Published in:

Molecular Oncology, 2020, v. 14, n. 8, p. 1833, doi. 10.1002/1878-0261.12698

By:

Yuan, Xi;
Tang, Zhiyu;
Du, Rong;
Yao, Zhan;
Cheung, Shing‐Hu;
Zhang, Xinwen;
Wei, Jing;
Zhao, Yuan;
Du, Yunguang;
Liu, Ye;
Hu, Xiaoxia;
Gong, Wenfeng;
Liu, Yong;
Gao, Yajuan;
Huang, Zhiyue;
Cao, Zongfu;
Wei, Min;
Zhou, Changyou;
Wang, Lai;
Rosen, Neal

Publication type:

Article

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01130-x

By:

Shen, Yue;
Wang, Hao;
Liu, Zhimin;
Luo, Minna;
Ma, Siyu;
Lu, Chao;
Cao, Zongfu;
Yu, Yufei;
Cai, Ruikun;
Chen, Cuixia;
Li, Qian;
Gao, Huafang;
Peng, Yun;
Xu, Baoping;
Ma, Xu

Publication type:

Article

Mutation screening of crystallin genes in Chinese families with congenital cataracts.

Published in:

Molecular Vision, 2019, v. 25, p. 427

By:

Jianfu Zhuang;
Zongfu Cao;
Yihua Zhu;
Lijuan Liu;
Yi Tong;
Xiaole Chen;
Yaduan Wang;
Cailing Lu;
Xu Ma;
Juhua Yang

Publication type:

Article

Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02742-1

By:

Zhang, Chuan;
Yan, Yousheng;
Zhou, Bingbo;
Wang, Yupei;
Tian, Xinyuan;
Hao, Shengju;
Ma, Panpan;
Zheng, Lei;
Zhang, Qinghua;
Hui, Ling;
Wang, Yan;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.

Published in:

Journal of Clinical Laboratory Analysis, 2021, v. 35, n. 1, p. 1, doi. 10.1002/jcla.23567

By:

Zhang, Chuan;
An, Lisha;
Xue, Huiqin;
Hao, Shengju;
Yan, Yousheng;
Zhang, Qinghua;
Jin, Xiaohua;
Li, Qian;
Zhou, Bingbo;
Feng, Xuan;
Ma, Panpan;
Wang, Xing;
Chen, Xue;
Chen, Cuixia;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome.

Published in:

Journal of Clinical Laboratory Analysis, 2020, v. 34, n. 9, p. 1, doi. 10.1002/jcla.23407

By:

Zhang, Chuan;
Hao, Shengju;
Zhang, Qinghua;
Liu, Furong;
Zhou, Bingbo;
Xuan, Feng;
Xing, Wang;
Chen, Xue;
Wang, Yan;
Ma, Panpan;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.

Published in:

2023

By:

Shen, Yue;
Lu, Chao;
Cheng, Tingting;
Cao, Zongfu;
Chen, Cuixia;
Ma, Xu;
Gao, Huafang;
Luo, Minna

Publication type:

Case Study

The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00475-7

By:

Zhang, Chuan;
Zhang, Pei;
Yan, Yousheng;
Zhou, Bingbo;
Wang, Yupei;
Tian, Xinyuan;
Hao, Shengju;
Ma, Panpan;
Zheng, Lei;
Zhang, Qinghua;
Hui, Ling;
Wang, Yan;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.

Published in:

BioMed Research International, 2021, p. 1, doi. 10.1155/2021/6661860

By:

Yan, Lulu;
Shen, Ru;
Cao, Zongfu;
Han, Chunxiao;
Zhang, Yuxin;
Liu, Yingwen;
Yang, Xiangchun;
Xie, Min;
Li, Haibo

Publication type:

Article

Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.869210

By:

Chuan, Zhang;
Ruikun, Cai;
Qian, Li;
Shiyue, Mei;
Shengju, Hao;
Yong, Yuan;
Haibo, Li;
Neng, Xiao;
Yong, Zhao;
Huiqin, Xue;
Weijia, Wang;
Ling, Hui;
Bingbo, Zhou;
Zhang, Qinghua;
Yan, Wang;
Zongfu, Cao;
Xu, Ma

Publication type:

Article

Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.

Published in:

Ophthalmic Genetics, 2024, v. 45, n. 2, p. 147, doi. 10.1080/13816810.2023.2294843

By:

Zhuang, Jianfu;
Zhang, Rongcai;
Zhou, Biting;
Cao, Zongfu;
Zhou, Jie;
Chen, Xiaole;
Zhang, Nanwen;
Zhu, Yihua;
Yang, Juhua

Publication type:

Article

Functional collagen conduits combined with human mesenchymal stem cells promote regeneration after sciatic nerve transection in dogs.

Published in:

Journal of Tissue Engineering & Regenerative Medicine, 2018, v. 12, n. 5, p. 1285, doi. 10.1002/term.2660

By:

Cui, Yi;
Yao, Yao;
Zhao, Yannan;
Xiao, Zhifeng;
Cao, Zongfu;
Han, Sufang;
Li, Xing;
Huan, Yong;
Pan, Juli;
Dai, Jianwu

Publication type:

Article

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism.

Published in:

Current Eye Research, 2021, v. 46, n. 1, p. 140, doi. 10.1080/02713683.2020.1781192

By:

Chuan, Zhang;
Yan, Yousheng;
Hao, Shengju;
Zhang, Qinghua;
Zhou, Bingbo;
Feng, Xuan;
Wang, Xing;
Liu, Furong;
Zheng, Lei;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

Trajectories of peripheral white blood cells count around the menopause: a prospective cohort study.

Published in:

BMC Women's Health, 2024, p. 1, doi. 10.1186/s12905-024-03344-0

By:

Dai, Qiaoyun;
Zhang, Yaya;
Zhao, Xiujuan;
Yang, Xueying;
Sun, Huayu;
Wu, Shouling;
Chen, Shuohua;
Wang, Jianmei;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.

Published in:

Journal of Cellular Physiology, 2024, v. 239, n. 4, p. 1, doi. 10.1002/jcp.31189

By:

Lin, Zaisheng;
Shen, Yue;
Li, Yan;
Lu, Chao;
Zhu, Ying;
He, Ruida;
Cao, Zongfu;
Yin, Zhe;
Gao, Huafang;
Guo, Bin;
Ma, Xu;
Cao, Muqing;
Luo, Minna

Publication type:

Article

Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69565-z

By:

Zhang, Chuan;
Wang, Xing;
Hao, Shengju;
Zhang, Qinghua;
Zheng, Lei;
Zhou, Bingbo;
Liu, Furong;
Feng, Xuan;
Chen, Xue;
Ma, Panpan;
Chen, Cuixia;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03800-6

By:

Zhang, Chuan;
Yan, Yousheng;
Zhou, Bingbo;
Gao, Huimin;
Jin, Xiaohua;
Hui, Ling;
Hao, Shengju;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.

Published in:

Ophthalmic Research, 2024, v. 67, n. 1, p. 62, doi. 10.1159/000535788

By:

Zhou, Biting;
Yang, Juhua;
Bai, Yue;
Li, Yufei;
Chen, Shuyang;
Chen, Xiaole;
Zhang, Nanwen;
Cao, Zongfu;
Zhu, Yihua;
Xu, Yingying

Publication type:

Article

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II.

Published in:

BMC Medical Genomics, 2021, v. 14, p. 1, doi. 10.1186/s12920-021-01027-5

By:

Zhang, Chuan;
Hao, Shengju;
Meng, ZhaoYan;
Hui, Ling;
Wang, Yan;
Xuan, Feng;
Chen, Xue;
Wang, Xing;
Zheng, Furong;
Zheng, Lei;
Zhou, Bingbo;
Wu, Xinqi;
Zhang, Qinghua;
Cao, Zongfu

Publication type:

Article

Novel mutations in HSF4 cause congenital cataracts in Chinese families.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0636-3

By:

Cao, Zongfu;
Zhu, Yihua;
Liu, Lijuan;
Wu, Shuangqing;
Liu, Bing;
Zhuang, Jianfu;
Tong, Yi;
Chen, Xiaole;
Xie, Yongqing;
Nie, Kaimei;
Lu, Cailing;
Ma, Xu;
Yang, Juhua

Publication type:

Article

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1682

By:

Zhang, Xiujuan;
Shen, Yue;
Li, Ping;
Cai, Ruikun;
Lu, Chao;
Li, Qian;
Chen, Cuixia;
Yu, Yufei;
Cheng, Tingting;
Wang, Xian;
Luo, Minna;
Cao, Muqing;
Cao, Zongfu;
Ma, Xu

Publication type:

Article

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1004

By:

Luo, Minna;
Cao, Li;
Cao, Zongfu;
Ma, Siyu;
Shen, Yue;
Yang, Di;
Lu, Chao;
Lin, Zaisheng;
Liu, Zhimin;
Yu, Yufei;
Cai, Ruikun;
Chen, Cuixia;
Gao, Huafang;
Wang, Xueyan;
Cao, Muqing;
Ma, Xu

Publication type:

Article