Xue JJ - Search Results

1

[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II].

Jia B, Xue JJ, Liang DS, Wu LQ. Jia B, et al. Among authors: xue jj. Zhonghua Er Ke Za Zhi. 2009 Feb;47(2):109-13. Zhonghua Er Ke Za Zhi. 2009. PMID: 19573456 Chinese.

2

[Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome].

Zhou ZM, Liang DS, Quan Y, Xue JJ, Li HY, Xia XB, Wu LQ. Zhou ZM, et al. Among authors: xue jj. Zhonghua Yan Ke Za Zhi. 2010 Jun;46(6):532-6. Zhonghua Yan Ke Za Zhi. 2010. PMID: 21055199 Chinese.

3

[Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions].

Xue J, Zhu H, Wu L, Liang D, Pan Q, Long Z, Dai H, Xia K, Xia J. Xue J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Dec;25(6):633-6. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008. PMID: 19065519 Chinese.

4

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.

Hu J, Liang D, Xue J, Liu J, Wu L. Hu J, et al. Mol Vis. 2011 Mar 12;17:715-22. Mol Vis. 2011. PMID: 21423867 Free PMC article.

5

Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.

Xue J, Peng J, Zhou M, Zhong L, Yin F, Liang D, Wu L. Xue J, et al. Mol Genet Metab. 2012 Jan;105(1):79-83. doi: 10.1016/j.ymgme.2011.09.007. Epub 2011 Sep 16. Mol Genet Metab. 2012. PMID: 22104738

6

Mutation analysis in Chinese patients with Cornelia de Lange syndrome.

Zhong Q, Liang D, Liu J, Xue J, Wu L. Zhong Q, et al. Genet Test Mol Biomarkers. 2012 Sep;16(9):1130-4. doi: 10.1089/gtmb.2011.0383. Epub 2012 Aug 2. Genet Test Mol Biomarkers. 2012. PMID: 22857006 Free PMC article.

7

[Identification of the small supernumerary marker chromosomes in two patients with Turner syndrome].

Wen J, Liang D, Liao X, Xue J, Tang G, Xia Y, Long Z, Dai H, Wu L. Wen J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):659-63. doi: 10.3760/cma.j.issn.1003-9406.2009.06.011. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009. PMID: 19953489 Chinese.

8

A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree.

Xue J, Gao Q, Huang Y, Zhang X, Yang P, Cram DS, Liang D, Wu L. Xue J, et al. Clin Chim Acta. 2016 Oct 1;461:135-40. doi: 10.1016/j.cca.2016.07.025. Epub 2016 Jul 30. Clin Chim Acta. 2016. PMID: 27485761

9

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

Liu Y, Xue J, Li Z, Linpeng S, Tan H, Teng Y, Liang D, Wu L. Liu Y, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1127. doi: 10.1002/mgg3.1127. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943912 Free PMC article.

10

Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation.

Huang W, Luo S, Ou J, Zhu F, Xia Y, Xue J, Pan Q, Wu L, Duan R. Huang W, et al. J Med Genet. 2014 Mar;51(3):159-64. doi: 10.1136/jmedgenet-2013-101978. Epub 2013 Nov 27. J Med Genet. 2014. PMID: 24285860

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