Associated Papers
Potential susceptibility genes in patients with stage III and IV periodontitis: A whole-exome sequencing pilot study.
Xue F et al.
Biomolecules & Biomedicine, 2024
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.
Zhuo L et al.
Bmc Medical Genetics, 2019
A Systematic Analysis of Major Susceptible Genes in Childhood-onset Steroid-resistant Nephrotic Syndrome.
Li Y et al.
Annals of Clinical and Laboratory Science, 2019
Analysis of 14 Patients With Congenital Nephrotic Syndrome.
Chen Y et al.
Frontiers in Pediatrics, 2019
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W et al.
Scientific Reports, 2018
Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings.
Zhang H et al.
Intractable & Rare Diseases Research, 2017
Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review.
Feng C et al.
Medicine, 2017
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.
Wang Y et al.
Gene, 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
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
de Voer RM et al.
Plos Genetics, 2016
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.
Weber S et al.
Pediatric Nephrology (berlin, Germany), 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Polymorphisms in the nephrin gene and diabetic nephropathy in type 1 diabetic patients.
Pettersson-Fernholm K et al.
Kidney International, 2003
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
Beltcheva O et al.
Human Mutation, 2001
Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.
Aya K et al.
Kidney International, 2000