Wang CL - Search Results

1

[Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ].

Sha YG, Wang CL, Du ZW, Zheng BX, Zhou W, Zhao F, Ding GX, Zhang A. Sha YG, et al. Among authors: wang cl. Zhonghua Er Ke Za Zhi. 2022 Feb 2;60(2):129-133. doi: 10.3760/cma.j.cn112140-20210603-00481. Zhonghua Er Ke Za Zhi. 2022. PMID: 35090230 Chinese.

2

Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.

Zheng B, Pan J, Jin Y, Wang C, Liu Z. Zheng B, et al. Mol Med Rep. 2016 Sep;14(3):2107-10. doi: 10.3892/mmr.2016.5503. Epub 2016 Jul 11. Mol Med Rep. 2016. PMID: 27431780

3

A Clinical and Molecular Genetic Study in 11 Chinese Children With Peutz-Jeghers Syndrome.

Zheng B, Wang C, Jia Z, Liu Z, Li M, Jin Y, Pan J. Zheng B, et al. J Pediatr Gastroenterol Nutr. 2017 Apr;64(4):559-564. doi: 10.1097/MPG.0000000000001316. J Pediatr Gastroenterol Nutr. 2017. PMID: 27467201

4

Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome.

Wang C, Chen Y, Zheng B, Zhu M, Fan J, Wang J, Jia Z, Huang S, Zhang A. Wang C, et al. Am J Physiol Renal Physiol. 2018 Oct 1;315(4):F844-F851. doi: 10.1152/ajprenal.00077.2017. Epub 2018 Feb 14. Am J Physiol Renal Physiol. 2018. PMID: 29442545 Free article.

5

Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease.

Wang C, Zhou W, Huang Y, Yin H, Jin Y, Jia Z, Zhang A, Liu Z, Zheng B. Wang C, et al. Liver Int. 2018 Aug;38(8):1504-1513. doi: 10.1111/liv.13754. Epub 2018 May 2. Liver Int. 2018. PMID: 29637721

6

Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome.

Zheng B, Chen Q, Wang C, Zhou W, Chen Y, Ding G, Jia Z, Zhang A, Huang S. Zheng B, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e876. doi: 10.1002/mgg3.876. Epub 2019 Aug 3. Mol Genet Genomic Med. 2019. PMID: 31376231 Free PMC article. Clinical Trial.

7

Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome.

Wang C, Han Y, Zhou J, Zheng B, Zhou W, Bao H, Jia Z, Zhang A, Huang S, Ding G, Zhao F. Wang C, et al. Front Genet. 2020 Feb 21;11:81. doi: 10.3389/fgene.2020.00081. eCollection 2020. Front Genet. 2020. PMID: 32153641 Free PMC article.

8

A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.

Hu G, Zeng J, Wang C, Zhou W, Jia Z, Yang J, Zheng B. Hu G, et al. Front Pediatr. 2020 Mar 27;8:118. doi: 10.3389/fped.2020.00118. eCollection 2020. Front Pediatr. 2020. PMID: 32292771 Free PMC article.

9

Eosinophilic colitis in a boy with a novel XIAP mutation: a case report.

Tang J, Zhou X, Wang L, Hu G, Zheng B, Wang C, Lu Y, Jin Y, Guo H, Liu Z. Tang J, et al. BMC Pediatr. 2020 Apr 18;20(1):171. doi: 10.1186/s12887-020-02075-z. BMC Pediatr. 2020. PMID: 32305064 Free PMC article.

10

Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.

Zheng B, Wang C, Chen Q, Che R, Sha Y, Zhao F, Ding G, Zhou W, Jia Z, Huang S, Chen Y, Zhang A. Zheng B, et al. J Bone Miner Res. 2020 Sep;35(9):1718-1725. doi: 10.1002/jbmr.4035. Epub 2020 May 12. J Bone Miner Res. 2020. PMID: 32329911 Free article.

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