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Systemic immune-inflammation index is associated with diabetic kidney disease in Type 2 diabetes mellitus patients: Evidence from NHANES 2011-2018

Frontiers in endocrinology (Lausanne), 2022-12, Vol.13, p.1071465-1071465

2022

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Role of abnormal energy metabolism in the progression of chronic kidney disease and drug intervention

Renal failure, 2022-12, Vol.44 (1), p.790-805

2022

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Identification of Four Novel COL4A5 Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families

Frontiers in genetics, 2022-03, Vol.13, p.847777-847777

2022

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Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3

Endocrine, 2020-04, Vol.68 (1), p.192-202

2020

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Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay

BMC genomics, 2023-07, Vol.24 (1), p.407-407, Article 407

2023

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Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients

Frontiers in genetics, 2023-04, Vol.14, p.1124745-1124745

2023

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A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report

BMC medical genomics, 2021-08, Vol.14 (1), p.198-7, Article 198

2021

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Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay

Frontiers in genetics, 2022-08, Vol.13, p.961384-961384

2022

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Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay

Frontiers in genetics, 2024-05, Vol.15, p.1353674-1353674

2024

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Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

Frontiers in genetics, 2020-11, Vol.11, p.585064-585064

2020

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A Validation Study Comparing Risk Prediction Models of IgA Nephropathy

Frontiers in immunology, 2021-10, Vol.12, p.753901-753901

2021

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Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones

Scientific reports, 2016-09, Vol.6 (1), p.33652-33652, Article 33652

2016

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The urate-lowering efficacy and safety of febuxostat versus allopurinol in Chinese patients with asymptomatic hyperuricemia and with chronic kidney disease stages 3–5

Clinical and experimental nephrology, 2019-03, Vol.23 (3), p.362-370

2019

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Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay

Molecular genetics & genomic medicine, 2024-02, Vol.12 (2), p.e2395-n/a

2024

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A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report

Clinical case reports, 2022-11, Vol.10 (11), p.n/a

2022

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Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

BMC medical genetics, 2018-09, Vol.19 (1), p.173-173, Article 173

2018

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Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report

BMC nephrology, 2018-12, Vol.19 (1), p.364-364, Article 364

2018

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A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria

Scientific reports, 2016-09, Vol.6 (1), p.33920-33920, Article 33920

2016

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Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report

BMC nephrology, 2018-07, Vol.19 (1), p.181-181, Article 181

2018

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Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report

Renal failure, 2020-01, Vol.42 (1), p.958-965

2020

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Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome

Molecular genetics & genomic medicine, 2023-04, Vol.11 (4), p.e2128-n/a

2023

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Enterogenic bacterial peritonitis and delayed chylous ascites associated with overheated peritoneal dialysis fluid infusion

Clinical kidney journal, 2024-08, Vol.17 (8), p.sfae219

2024

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High-Frequency Variant p.T60M in NaCl Cotransporter and Blood Pressure Variability in Han Chinese

American journal of nephrology, 2012-01, Vol.35 (6), p.515-519

2012

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Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na-Cl cotransporter mutations

European journal of endocrinology, 2009-08, Vol.161 (2), p.275

2009

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Two novel variants in a Bardet‐Biedl syndrome type 5 patient with severe renal phenotype

Nephrology (Carlton, Vic.), 2022-11, Vol.27 (11), p.897-900

2022

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Systemic immune-inflammation index is associated with diabetic kidney disease in Type 2 diabetes mellitus patients: Evidence from NHANES 2011-2018

Role of abnormal energy metabolism in the progression of chronic kidney disease and drug intervention

Identification of Four Novel COL4A5 Variants and Detection of Splicing Abnormalities in Three Chinese X-Linked Alport Syndrome Families

Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3

Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay

Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report

Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

A Validation Study Comparing Risk Prediction Models of IgA Nephropathy

Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones

The urate-lowering efficacy and safety of febuxostat versus allopurinol in Chinese patients with asymptomatic hyperuricemia and with chronic kidney disease stages 3–5

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay

A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report

A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria

Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report

Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome

Enterogenic bacterial peritonitis and delayed chylous ascites associated with overheated peritoneal dialysis fluid infusion

High-Frequency Variant p.T60M in NaCl Cotransporter and Blood Pressure Variability in Han Chinese

Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na-Cl cotransporter mutations

Two novel variants in a Bardet‐Biedl syndrome type 5 patient with severe renal phenotype

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