Ji X - Search Results

1

Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.

Dai M, Xu Y, Sun Y, Xiao B, Ying X, Liu Y, Jiang W, Zhang J, Liu X, Ji X. Dai M, et al. Among authors: ji x. Mol Genet Genomics. 2022 Jul;297(4):1039-1048. doi: 10.1007/s00438-022-01874-6. Epub 2022 May 25. Mol Genet Genomics. 2022. PMID: 35612622

2

[Genetic tests and clinical re-evaluation of 85 children with suspected spinal muscular atrophy].

Ji X, Liu XQ, Shen JW, Li XH, Tao J. Ji X, et al. Zhonghua Er Ke Za Zhi. 2010 Jun;48(6):425-30. Zhonghua Er Ke Za Zhi. 2010. PMID: 21055263 Chinese.

3

[Two cases of partial trisomy 8p derived from paternal reciprocal translocation or maternal insertion translocation: clinical features and genetic abnormalities].

Xiao B, Zhang JM, Ji X, Jiang WT, Hu J, Tao J. Xiao B, et al. Among authors: ji x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Jun;28(3):247-50. doi: 10.3760/cma.j.issn.1003-9406.2011.03.002. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 21644216 Chinese.

4

[Optimization of polymerase chain reaction assay combined with capillary electrophoresis to detect the pre- and full mutation of FMR1 gene].

Zhou Y, Sun W, Xiao B, Han X, Long F, Jiang WT, Ji X, Tao J. Zhou Y, et al. Among authors: ji x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):401-5. doi: 10.3760/cma.j.issn.1003-9406.2011.04.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 21811979 Chinese.

5

[A case with partial trisomy 7 (q34→qter) derived from a paternal reciprocal translocation t(7;14)(q34;q32)].

Xiao B, Ji X, Jiang WT, Zhang JM, Hu Q, Tao J. Xiao B, et al. Among authors: ji x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):654-7. doi: 10.3760/cma.j.issn.1003-9406.2011.06.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 22161098 Chinese.

6

[Clinical application of multiplex ligation-dependent probe amplification for the detection exonic copy number alterations in the Dystrophin gene].

Long F, Sun W, Ji X, Li XH, Liu XQ, Jiang WT, Tao J. Long F, et al. Among authors: ji x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):699-704. doi: 10.3760/cma.j.issn.1003-9406.2011.06.023. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 22161109 Chinese.

7

[Clinical and genetic study of a case with Smith-Magenis syndrome].

Shen LX, Zhang JS, Ji X, Xing Y, Hu J, Tao J, Xiao B. Shen LX, et al. Among authors: ji x. Zhonghua Er Ke Za Zhi. 2012 Mar;50(3):227-30. Zhonghua Er Ke Za Zhi. 2012. PMID: 22801211 Chinese.

8

[Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes].

Xing Y, Ji X, Xiao B, Jiang WT, Hu Q, Hu J, Cao Y, Tao J. Xing Y, et al. Among authors: ji x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):408-12. doi: 10.3760/cma.j.issn.1003-9406.2012.04.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012. PMID: 22875496 Chinese.

9

Inverted Duplication and Deletion of 10q25q26 in a Patient without Any Obvious Skeletal Anomalies.

Xiao B, Ji X, Xing Y, Jiang WT, Zhang JM, Tao J. Xiao B, et al. Among authors: ji x. Mol Syndromol. 2012 Oct;3(4):185-9. doi: 10.1159/000343047. Epub 2012 Sep 27. Mol Syndromol. 2012. PMID: 23239961 Free PMC article.

10

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: ji x. 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

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