Xiangzhong Zhao

发表

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.

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.

Serum free fatty acid elevation is related to acute kidney injury in primary nephrotic syndrome

Lili Zhang, T. Lv, Li Cui, 2022, Renal failure.

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.

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.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

D. Taruscio, F. Brancati, A. Ferlini, 2018, European Journal of Human Genetics.

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.

Neonatal sudden death caused by a novel heterozygous mutation in SLC25A20 gene: A case report and brief literature review.

Mingxia Ding, Xiangzhong Zhao, Dian-bin Zhang, 2021, Legal medicine.

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

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

Association analysis of risk genes identified by SCHEMA with schizophrenia in the Chinese Han population

Qian Zhang, Zhiqiang Li, Zhuo Wang, 2022, Psychiatric genetics.

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.

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

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

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.

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.

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 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.

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.

Comparative analysis of the chloroplast genomes of Rosa species and RNA editing analysis

Xia Zhao, Mingxuan Wu, Xiangzhong Zhao, 2023, BMC Plant Biology.