Chen C - Search Results

1

Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement.

Ma S, Chen C, Liang Q, Wu X, Wang X, Wu W, Liu Y, Ding Q. Ma S, et al. Among authors: chen c. Orphanet J Rare Dis. 2019 Jul 24;14(1):182. doi: 10.1186/s13023-019-1144-z. Orphanet J Rare Dis. 2019. PMID: 31340840 Free PMC article.

2

[Genetic diagnosis of a Chinese pedigree with X-Linked sideroblastic anemia: a case report and literature review].

Chen C, Ding Q, Lu Y, Dai J, Wang X, Xi X, Wang H. Chen C, et al. Zhonghua Xue Ye Xue Za Zhi. 2016 Feb;37(2):154-6. doi: 10.3760/cma.j.issn.0253-2727.2016.02.015. Zhonghua Xue Ye Xue Za Zhi. 2016. PMID: 27014988 Free PMC article. Review. Chinese. No abstract available.

3

AccuCopy quantification combined with pre-amplification of long-distance PCR for fast analysis of intron 22 inversion in haemophilia A.

Ding Q, Wu X, Lu Y, Chen C, Shen R, Zhang X, Jiang Z, Wang X. Ding Q, et al. Among authors: chen c. Clin Chim Acta. 2016 Jul 1;458:78-83. doi: 10.1016/j.cca.2016.04.015. Epub 2016 Apr 19. Clin Chim Acta. 2016. PMID: 27101812

4

A pericentric inversion of chromosome X disrupting F8 and resulting in haemophilia A.

Xin Y, Zhou J, Ding Q, Chen C, Wu X, Wang X, Wang H, Jiang X. Xin Y, et al. Among authors: chen c. J Clin Pathol. 2017 Aug;70(8):656-661. doi: 10.1136/jclinpath-2016-204050. Epub 2017 Jan 10. J Clin Pathol. 2017. PMID: 28073995

5

Gly74Ser mutation in protein C causes thrombosis due to a defect in protein S-dependent anticoagulant function.

Chen C, Yang L, Villoutreix BO, Wang X, Ding Q, Rezaie AR. Chen C, et al. Thromb Haemost. 2017 Jun 28;117(7):1358-1369. doi: 10.1160/TH17-01-0043. Epub 2017 Apr 13. Thromb Haemost. 2017. PMID: 28405673 Free PMC article.

6

Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis.

Chen C, Xie X, Wu X, Lu Y, Wang X, Wu W, Hu Y, Ding Q. Chen C, et al. Thromb Haemost. 2017 Jul 26;117(8):1478-1485. doi: 10.1160/TH17-01-0046. Epub 2017 May 11. Thromb Haemost. 2017. PMID: 28492696

7

Characterization of two large duplications of F9 associated with mild and severe haemophilia B, respectively.

Xie X, Chen C, Liang Q, Wu X, Wang X, Wu W, Ding Q. Xie X, et al. Among authors: chen c. Haemophilia. 2019 May;25(3):475-483. doi: 10.1111/hae.13704. Epub 2019 Mar 13. Haemophilia. 2019. PMID: 30866119

8

The Disulfide Bond between Cys22 and Cys27 in the Protease Domain Modulate Clotting Activity of Coagulation Factor X.

Li F, Chen C, Qu SY, Zhao MZ, Xie X, Wu X, Li L, Wang X, Ding Q, Xu Q, Wei DQ, Wu W. Li F, et al. Among authors: chen c. Thromb Haemost. 2019 Jun;119(6):871-881. doi: 10.1055/s-0039-1683442. Epub 2019 Mar 27. Thromb Haemost. 2019. PMID: 30919383

9

Factor IX alteration p.Arg338Gln (FIX Shanghai) potentiates FIX clotting activity and causes thrombosis.

Wu W, Xiao L, Wu X, Xie X, Li P, Chen C, Zheng Z, Ai J, Valencia CA, Dong B, Ding Q, Dong B, Wang X. Wu W, et al. Among authors: chen c. Haematologica. 2021 Jan 1;106(1):264-268. doi: 10.3324/haematol.2019.216713. Haematologica. 2021. PMID: 32079698 Free PMC article. No abstract available.

10

The novel mutation p.Asp315Tyr causes severe hemophilia B by impairing coagulation factor IX expression.

Lu Z, Zhang H, Chen C, Wu W, Wei H. Lu Z, et al. Among authors: chen c. Thromb Res. 2021 Feb;198:23-25. doi: 10.1016/j.thromres.2020.11.024. Epub 2020 Nov 22. Thromb Res. 2021. PMID: 33249248 No abstract available.

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