Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism

par Bai, Zhouxian, Kong, Xiangdong
Publié dans Mol Genet Genomic Med (2018)

Recent advances of glucocorticoids in the treatment of Duchenne muscular dystrophy (Review)

par Zhang, Tianyuan, Kong, Xiangdong
Publié dans Exp Ther Med (2021)

Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree

par Bai, Ying, Chen, Yibing, Kong, Xiangdong
Publié dans BMC Nephrol (2018)

Prognostic Significance of Pregnancy Zone Protein and Its Correlation with Immune Infiltrates in Hepatocellular Carcinoma

par Su, Lisa, Zhang, Genhao, Kong, Xiangdong
Publié dans Cancer Manag Res (2020)

Serum level of high mobility group box protein-1 and prognosis of patients with end-stage renal disease on hemodialysis and peritoneal dialysis

par Chen, Linyan, Chen, Gaoping, Kong, Xiangdong
Publié dans Medicine (Baltimore) (2021)

A Novel Five-Gene Signature for Prognosis Prediction in Hepatocellular Carcinoma

par Su, Lisa, Zhang, Genhao, Kong, Xiangdong
Publié dans Front Oncol (2021)

Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC

par Zong, Yanan, Liu, Ning, Zhao, Zhenhua, Kong, Xiangdong
Publié dans BMC Med Genet (2015)

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria

par Hu, Shuang, Mei, Shiyue, Liu, Ning, Kong, Xiangdong
Publié dans BMC Med Genet (2018)

Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases

par Shi, Panlai, Li, Rui, Wang, Conghui, Kong, Xiangdong
Publié dans Mol Genet Genomic Med (2019)

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole‐exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome

par Zhao, Xuechao, Wang, Yanhong, Mei, Shiyue, Kong, Xiangdong
Publié dans Mol Genet Genomic Med (2020)

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

par Sun, Yingjie, Kong, Xiangdong, Zhao, Zhenhua, Zhao, Xuechao
Publié dans BMC Med Genet (2020)

Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis

par Shi, Panlai, Xia, Yanjie, Li, Qianqian, Kong, Xiangdong
Publié dans J Obstet Gynaecol Res (2021)

Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family

par Shi, Panlai, Wang, Conghui, Zheng, Yuting, Kong, Xiangdong
Publié dans BMC Med Genomics (2021)

Polyethyleneimine-modified calcium carbonate nanoparticles for p53 gene delivery

par Chen, Cen, Han, Huafeng, Yang, Wei, Ren, Xiaoyuan, Kong, Xiangdong
Publié dans Regen Biomater (2016)

Calcium phosphate nanoparticles-based systems for siRNA delivery

par Xu, Xiaochun, Li, Zehao, Zhao, Xueqin, Keen, Lawrence, Kong, Xiangdong
Publié dans Regen Biomater (2016)

Co-expression network analysis of Down's syndrome based on microarray data

par Zhao, Jianping, Zhang, Zhengguo, Ren, Shumin, Zong, Yanan, Kong, Xiangdong
Publié dans Exp Ther Med (2016)

Vegetation dynamic analysis based on multisource remote sensing data in the east margin of the Qinghai-Tibet Plateau, China

par Wang, Haijun, Peng, Peihao, Kong, Xiangdong, Zhang, Tingbin, Yi, Guihua
Publié dans PeerJ (2019)

Mineralization of calcium phosphate controlled by biomimetic self-assembled peptide monolayers via surface electrostatic potentials

par Wang, Shuo, Yang, Yongdong, Wang, Ronghan, Kong, Xiangdong, Wang, Xiumei
Publié dans Bioact Mater (2020)

Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mut...

par Gao, Shanshan, Hu, Shuang, Duan, Huikun, Wang, Li, Kong, Xiangdong
Publié dans BMC Med Genet (2020)

DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years

par Zhong, Xingjian, Cui, Siying, Liu, Lina, Yang, Yuxia, Kong, Xiangdong
Publié dans BMC Med Genomics (2021)