L. Shao

发表

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

Zhiying Liu, Sai Wang, Ruixiao Zhang, 2021, BMC Medical Genomics.

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

Wei Zhang, C. Luo, Yan Xu, 2018, Clinical and Experimental Nephrology.

Identification of ten novel SLC5A2 mutations and determination of the renal threshold for glucose excretion in Chinese patients with familial renal glucosuria.

Sai Wang, Ruixiao Zhang, Cui Wang, 2019, Clinica chimica acta; international journal of clinical chemistry.

Novel SLC12A3 Mutations in Chinese Patients with Gitelman’s Syndrome

N. Chen, Weiming Wang, Xiao Li, 2008, Nephron Physiology.

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

L. Shao, Xuyan Liu, Huasheng Du, 2022, Renal failure.

The efficacy of cinacalcet combined with conventional therapy on bone and mineral metabolism in dialysis patients with secondary hyperparathyroidism: a meta-analysis

Wei Zhang, Yan Xu, Wei Jiang, 2013, Endocrine.

Identification of five novel variants in the thiazide‐sensitive NaCl co‐transporter gene in Chinese patients with Gitelman syndrome

N. Chen, Weiming Wang, H. Ren, 2009, Nephrology.

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

I. Bottillo, S. Tuffery-Giraud, Ting Liu, 2016, Scientific Reports.

Novel gain‐of‐function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree

Zhiying Liu, Ruixiao Zhang, L. Shao, 2021, Nephrology.

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

N. Chen, H. Ren, R. Bindels, 2009, European journal of endocrinology.

Stromal proteome expression profile and muscle-invasive bladder cancer research

Haitao Niu, Xinhui Li, Q. Dong, 2012, Cancer Cell International.

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

Y. Sun, Zhiying Liu, Sai Wang, 2020, Renal failure.

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

Zhiying Liu, Ruixiao Zhang, L. Shao, 2022, Frontiers in Genetics.

Eight Novel KCNJ1 Variants and Parathyroid Hormone Overaction or Resistance in 5 Probands with Bartter Syndrome Type 2.

Sai Wang, Ruixiao Zhang, L. Shao, 2020, Clinica chimica acta; international journal of clinical chemistry.

Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3

I. Bottillo, S. Tuffery-Giraud, Xiaoling Wang, 2015, American Journal of Nephrology.

Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis.

Ruixiao Zhang, Cui Wang, Jingru Lu, 2018, Genetic testing and molecular biomarkers.

Percutaneous Transluminal Revascularization following an Angiotensin Receptor Blocker: Successful Treatment for Flash Pulmonary Edema and Hyponatremic Hypertensive Syndrome

L. Shao, Yanxia Gao, Y. Lang, 2012, Cardiorenal Medicine.

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

Sai Wang, Jingru Lu, L. Shao, 2022, Frontiers in Genetics.

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

L. Shao, Xiaomeng Shi, Yingfei Shao, 2022, Nephrology.

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

A. Sui, Zhiying Liu, Ruixiao Zhang, 2022, Clinical case reports.

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

Xiaoling Wang, Ting Liu, Cui Wang, 2016, Scientific Reports.

Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I

I. Bottillo, Sai Wang, Cui Wang, 2019, Endocrine.

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

Wei Zhang, N. Chen, Haitao Niu, 2012, American Journal of Nephrology.

Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay

I. Bottillo, Zhiying Liu, Sai Wang, 2021, Human mutation.

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

I. Bottillo, Zhiying Liu, Sai Wang, 2020, Frontiers in Genetics.

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

Hong Wang, I. Bottillo, Zhiying Liu, 2021, Molecular genetics & genomic medicine.

Cast nephropathy associated with monoclonal immunoglobulin M-secreting mucosa-associated lymphoid tissue B-cell lymphoma .

X. Xing, H. Luan, Chuanxiao Wang, 2019, Clinical nephrology.

Concurrent non‐crystalline light chain proximal tubulopathy and light chain deposition disease: a case report

Y. Sun, Weina Jiang, Ruixiao Zhang, 2020, Nephrology.

Clinical features and prognostic factors of ten patients with renal failure caused by IgG4-related retroperitoneal fibrosis

Wei Zhang, L. Shao, F. Xue, 2017, Oncotarget.

Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome

Ting Liu, Cui Wang, Jingru Lu, 2016, American Journal of Nephrology.

Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome

Hong Wang, Ruixiao Zhang, L. Shao, 2022, Nephrology.

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

Xiaoling Wang, Jingru Lu, L. Shao, 2018, BMC Nephrology.

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

L. Shao, Yanxia Gao, Qian Dong, 2014, Renal failure.

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

Zhiying Liu, Sai Wang, L. Shao, 2019, Endocrine.

Mutation spectrum of Chinese patients with Bartter syndrome

Qing Sun, L. Shao, Yue Han, 2017, Oncotarget.

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

I. Bottillo, A. Paiardini, Jingru Lu, 2018, BMC Nephrology.

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

I. Bottillo, Xuejun Liu, Ruixiao Zhang, 2018, BMC Medical Genetics.

Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis

Zhiying Liu, Ruixiao Zhang, L. Shao, 2021, Clinical genetics.

A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype

L. Shao, Qian Dong, Y. Lang, 2010, Endocrine.

A Validation Study Comparing Risk Prediction Models of IgA Nephropathy

N. Chen, Weiming Wang, Jingyuan Xie, 2021, Frontiers in Immunology.

Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype–phenotype association study

Hong Wang, L. Shao, Yingfei Shao, 2022, World Journal of Pediatrics.

A Novel SLC12A3 Splicing Mutation Skipping of Two Exons and Preliminary Screening for Alternative Splice Variants in Human Kidney

N. Chen, Weiming Wang, H. Ren, 2008, American Journal of Nephrology.

A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II

I. Bottillo, Jingru Lu, L. Shao, 2018, FEBS open bio.

A Chinese Adult Patient with Fructose 1,6-bisphosphatase Deficiency

Cui Wang, Jingru Lu, L. Shao, 2017, Chinese medical journal.

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

Zhiying Liu, L. Shao, Xiangzhong Zhao, 2023, Frontiers in Genetics.

From Bartter's syndrome to renal tubular acidosis in a patient with Hashimoto's thyroiditis: A case report .

Sai Wang, Cui Wang, Jingru Lu, 2020, Clinical nephrology.

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

Zhiying Liu, Ruixiao Zhang, L. Shao, 2023, BMC Genomics.

Particulate matter of air pollution may increase risk of kidney failure in IgA nephropathy.

N. Chen, Hong Zhang, Zhangsheng Yu, 2022, Kidney international.

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

Zhiying Liu, Ruixiao Zhang, L. Shao, 2023 .

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

Zhiying Liu, Ruixiao Zhang, L. Shao, 2023, BMC Genomics.

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.

Zhiying Liu, Ruixiao Zhang, L. Shao, 2024, Nephrology.

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

L. Shao, Yanxia Gao, Qian Dong, 2014, Renal failure.

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

L. Shao, Xuyan Liu, Y. Lang, 2024, Molecular genetics & genomic medicine.