Wang C - Search Results

1

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.

Wang C, Lin Z, Yuan Z, Tang T, Fan L, Liu Y, Wu X. Wang C, et al. Hereditas. 2023 May 12;160(1):22. doi: 10.1186/s41065-023-00282-z. Hereditas. 2023. PMID: 37173762 Free PMC article.

2

A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c Levels.

Wang CY, Chen YQ, Jin JY, Du R, Fan LL, Xiang R. Wang CY, et al. Front Genet. 2020 Jul 15;11:755. doi: 10.3389/fgene.2020.00755. eCollection 2020. Front Genet. 2020. PMID: 32760429 Free PMC article.

3

Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus.

Liu JS, Huang H, Jin JY, Du R, Wang CY, Fan LL. Liu JS, et al. Mol Syndromol. 2020 Jul;11(3):130-134. doi: 10.1159/000507035. Epub 2020 Mar 28. Mol Syndromol. 2020. PMID: 32903920 Free PMC article.

4

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease.

Fan LL, Liu L, Luo FM, Du R, Wang CY, Dong Y, Liu JS. Fan LL, et al. Mol Genet Genomic Med. 2020 Dec;8(12):e1545. doi: 10.1002/mgg3.1545. Epub 2020 Nov 7. Mol Genet Genomic Med. 2020. PMID: 33159707 Free PMC article.

5

Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease.

Zhang AQ, Liu YX, Jin JY, Wang CY, Fan LL, Xu DB. Zhang AQ, et al. Exp Ther Med. 2021 May;21(5):510. doi: 10.3892/etm.2021.9941. Epub 2021 Mar 19. Exp Ther Med. 2021. PMID: 33791019 Free PMC article.

6

Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.

Wang CY, Yu F, Jin JY, He JQ, Fan LL, Tang JY, Xiang R. Wang CY, et al. Mol Syndromol. 2021 Apr;12(2):96-100. doi: 10.1159/000512856. Epub 2021 Feb 16. Mol Syndromol. 2021. PMID: 34012378 Free PMC article.

7

Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome.

Liu YH, Zhang HF, Jin JY, Wei YQ, Wang CY, Fan LL, Liu L. Liu YH, et al. Front Aging Neurosci. 2021 Jun 29;13:671296. doi: 10.3389/fnagi.2021.671296. eCollection 2021. Front Aging Neurosci. 2021. PMID: 34267643 Free PMC article.

8

Erratum: Use of whole-exome sequencing to identify a novel ADCY10 mutation in a patient with nephrolithiasis.

Wang C, Du R, Jin J, Dong Y, Liu J, Fan L, Xiang R. Wang C, et al. Am J Transl Res. 2021 Jun 15;13(6):7425. eCollection 2021. Am J Transl Res. 2021. PMID: 34306518 Free PMC article.

9

Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis.

Liu YX, Zhang AQ, Luo FM, Sheng Y, Wang CY, Dong Y, Fan L, Liu L. Liu YX, et al. Front Pediatr. 2021 Aug 2;9:687455. doi: 10.3389/fped.2021.687455. eCollection 2021. Front Pediatr. 2021. PMID: 34408996 Free PMC article.

10

A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.

Yuan ZZ, Wang CY, Jin JY, Sheng Y, Zhao MF, Fan LL, Zhang AQ. Yuan ZZ, et al. Clin Genet. 2021 Dec;100(6):773-774. doi: 10.1111/cge.14048. Epub 2021 Aug 23. Clin Genet. 2021. PMID: 34423420

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