Chen Y - Search Results

1

A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome.

Ji X, Xing Y, Xu Y, Liu Y, Chen Y, Tao J, Xiao B. Ji X, et al. Among authors: chen y. Gene. 2014 Mar 1;537(1):140-2. doi: 10.1016/j.gene.2013.12.018. Epub 2013 Dec 26. Gene. 2014. PMID: 24374473

2

Molecular prenatal diagnosis of autosomal recessive spinal muscular atrophies using quantification polymerase chain reaction.

Jiang W, Ji X, Xu Y, Qu X, Sun W, Yang Z, Tao J, Chen Y. Jiang W, et al. Among authors: chen y. Genet Test Mol Biomarkers. 2013 May;17(5):438-42. doi: 10.1089/gtmb.2012.0481. Epub 2013 Feb 28. Genet Test Mol Biomarkers. 2013. PMID: 23448387

3

A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.

Xiao B, Ji X, Xing Y, Chen YW, Tao J. Xiao B, et al. Among authors: chen yw. Eur J Med Genet. 2013 Dec;56(12):695-8. doi: 10.1016/j.ejmg.2013.10.001. Epub 2013 Oct 18. Eur J Med Genet. 2013. PMID: 24140641

4

Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.

Xu H, Xiao B, Ji X, Hu Q, Chen Y, Qiu W. Xu H, et al. Among authors: chen y. Eur J Med Genet. 2014 Jul;57(7):329-33. doi: 10.1016/j.ejmg.2014.04.011. Epub 2014 Apr 30. Eur J Med Genet. 2014. PMID: 24793337 Review.

5

MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai.

Ji X, Zhang J, Xu Y, Long F, Sun W, Liu X, Chen Y, Jiang W. Ji X, et al. Among authors: chen y. J Clin Lab Anal. 2015 Sep;29(5):405-11. doi: 10.1002/jcla.21787. Epub 2014 Aug 17. J Clin Lab Anal. 2015. PMID: 25131993 Free PMC article.

6

A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.

Xu Y, Xiao B, Jiang WT, Wang L, Gen HQ, Chen YW, Sun Y, Ji X. Xu Y, et al. Among authors: chen yw. Gene. 2014 Nov 1;551(1):33-8. doi: 10.1016/j.gene.2014.08.032. Epub 2014 Aug 19. Gene. 2014. PMID: 25153916

7

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma.

Xu Y, Li X, Ge HJ, Xiao B, Zhang YY, Ying XM, Pan XY, Wang L, Xie WW, Ni L, Chen SP, Jiang WT, Liu P, Ye H, Cao Y, Zhang JM, Liu Y, Yang ZJ, Chen YW, Chen F, Jiang H, Ji X. Xu Y, et al. Among authors: chen yw, chen f, chen sp. Genet Med. 2015 Nov;17(11):889-96. doi: 10.1038/gim.2014.207. Epub 2015 Feb 5. Genet Med. 2015. PMID: 25654318 Free article.

8

De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter.

Xiao B, Xu H, Ye H, Hu Q, Chen Y, Qiu W. Xiao B, et al. Among authors: chen y. Am J Med Genet A. 2015 Oct;167A(10):2327-33. doi: 10.1002/ajmg.a.37179. Epub 2015 Jun 10. Am J Med Genet A. 2015. PMID: 26061664

9

[Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome].

Wang H, Tang L, Zhang J, Hu Q, Chen Y, Xiao B. Wang H, et al. Among authors: chen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Aug;32(4):520-3. doi: 10.3760/cma.j.issn.1003-9406.2015.04.016. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26252099 Chinese.

10

[Clinical features and genetic analysis of two cases with 16p13.3 microdeletion and 19q13.4 microduplication derived from familial cryptic balanced translocation].

Xu H, Ji X, Ni L, Zhu Y, Chen Y, Xiao B. Xu H, et al. Among authors: chen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):490-3. doi: 10.3760/cma.j.issn.1003-9406.2016.04.013. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27455004 Chinese.

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