Yi S - Search Results

1

DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations.

Wang J, Xiao QZ, Chen YM, Yi S, Liu D, Liu YH, Zhang CM, Wei XF, Zhou YQ, Zhong XM, Zhao CY, Xiong F, Wei XC, Xu XM. Wang J, et al. Among authors: yi s. Blood Cells Mol Dis. 2014 Dec;53(4):241-5. doi: 10.1016/j.bcmd.2014.06.001. Epub 2014 Jun 21. Blood Cells Mol Dis. 2014. PMID: 24958328

2

Human STEAP3 mutations with no phenotypic red cell changes.

Liu D, Yi S, Zhang X, Fang P, Zheng C, Lin L, Cai R, Ye Y, Zhou Y, Liang Y, Cheng F, Zhang X, Zhou W, Mohandas N, An X, Xu X. Liu D, et al. Among authors: yi s. Blood. 2016 Feb 25;127(8):1067-71. doi: 10.1182/blood-2015-09-670174. Epub 2015 Dec 16. Blood. 2016. PMID: 26675350 Free PMC article. No abstract available.

3

Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families.

Hu L, Shang X, Yi S, Cai R, Li Z, Liu C, Liang Y, Cai D, Zhang F, Xu X. Hu L, et al. Among authors: yi s. Mol Genet Genomics. 2016 Jun;291(3):1443-50. doi: 10.1007/s00438-016-1193-0. Epub 2016 Mar 21. Mol Genet Genomics. 2016. PMID: 27000657

4

Thalassaemia intermedia caused by coinheritance of a β-thalassaemia mutation and a de novo duplication of α-globin genes in the paternal allele.

Pang D, Shang X, Cai D, Zhu F, Cheng Y, Zhong J, Yi S, Zhang Q, Xu X. Pang D, et al. Among authors: yi s. Br J Haematol. 2019 Aug;186(4):620-624. doi: 10.1111/bjh.15958. Epub 2019 May 24. Br J Haematol. 2019. PMID: 31124576 Free article.

5

Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia.

Pan Y, Yi S, Chen D, Du X, Yao X, He F, Xiong F. Pan Y, et al. Among authors: yi s. Clin Oral Investig. 2022 Aug;26(8):5171-5179. doi: 10.1007/s00784-022-04485-y. Epub 2022 May 31. Clin Oral Investig. 2022. PMID: 35641834 Review.

6

Common genetic polymorphisms at three loci affect HbF levels in β-thalassemia patients from Southern China.

Yi S, Lai Y, Zuo Y, Chen Y, Qin H, Wei Y, Yang Q, Lin L, Luo J, Fan X, Zheng C. Yi S, et al. Blood Cells Mol Dis. 2016 Nov;62:22-23. doi: 10.1016/j.bcmd.2016.10.019. Epub 2016 Oct 26. Blood Cells Mol Dis. 2016. PMID: 27835778 No abstract available.

7

The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients.

Lai Y, Zhou L, Yi S, Chen Y, Tang Y, Yi S, Yang Z, Wei H, Zheng C, He S. Lai Y, et al. Among authors: yi s. Blood Cells Mol Dis. 2017 Mar;63:52-57. doi: 10.1016/j.bcmd.2017.01.011. Epub 2017 Jan 25. Blood Cells Mol Dis. 2017. PMID: 28160732

8

A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1.

Yang Q, Xu H, Luo J, Zhang Q, Xie B, Yi S, Rong X, Wang J, Qin Z, Jiang T, Lin L, Zuo Y, Fan X. Yang Q, et al. Among authors: yi s. Mol Med Rep. 2018 Mar;17(3):4433-4439. doi: 10.3892/mmr.2018.8436. Epub 2018 Jan 16. Mol Med Rep. 2018. PMID: 29344653 Free PMC article.

9

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Yang Q, Yi S, Li M, Xie B, Luo J, Wang J, Rong X, Zhang Q, Qin Z, Hang L, Feng S, Fan X. Yang Q, et al. Among authors: yi s. BMC Med Genet. 2019 Jun 13;20(1):106. doi: 10.1186/s12881-019-0842-7. BMC Med Genet. 2019. PMID: 31196117 Free PMC article.

10

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship.

Lu W, Liang M, Su J, Wang J, Li L, Zhang S, Qin Z, Huang L, Lu Y, Yi S, Yi S, Xie B, Zheng H, Luo J, Gao X, Shen Y. Lu W, et al. Among authors: yi s. Mol Genet Genomic Med. 2020 May;8(5):e1212. doi: 10.1002/mgg3.1212. Epub 2020 Mar 11. Mol Genet Genomic Med. 2020. PMID: 32160656 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

4,326 results

Search Page