Associated Papers
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report.
Xie D et al.
Medicine, 2023
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).
Lu L et al.
Clinical Genetics, 2022
The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.
Zhu X et al.
Frontiers in Medicine, 2022
A case report of congenital nephrotic syndrome caused by new mutations of NPHS1.
Li Z et al.
The Journal of International Medical Research, 2021
NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation.
Sun L et al.
Bioscience Reports, 2021
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study.
Rong L et al.
Frontiers in Medicine, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type.
Nishi K et al.
Clinical and Experimental Nephrology, 2019
Mutational spectrum and novel candidate genes in Chinese children with sporadic steroid-resistant nephrotic syndrome.
Li J et al.
Pediatric Research, 2019
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome.
Li GM et al.
Bmc Nephrology, 2018
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
Wang F et al.
Pediatric Nephrology (berlin, Germany), 2017
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.
Nguyen TK et al.
Case Reports in Genetics, 2017
Congenital nephrotic syndrome with a novel NPHS1 mutation.
Yoshizawa C et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
Yang F et al.
Journal of Genetics, 2016
Response to cyclosporine in steroid-resistant nephrotic syndrome: discontinuation is possible.
Klaassen I et al.
Pediatric Nephrology (berlin, Germany), 2015
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.
Fu R et al.
Genetics and Molecular Research : Gmr, 2015
Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome.
Feng DN et al.
Genetics and Molecular Research : Gmr, 2014
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.
Wu LQ et al.
Genetics and Molecular Research : Gmr, 2011
[Updates on the molecular genetics of congenital nephrotic syndrome].
Zhang HW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].
Shi Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005