Huang J - Search Results

1

Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family.

Liu HY, Xiao JF, Huang J, Wang Y, Wu D, Li T, Wang HD, Guo LJ, Guo QN, Xiao H, Lyu X, Yu ZH. Liu HY, et al. Among authors: huang j. Chin Med J (Engl). 2017 Jan 5;130(1):104-107. doi: 10.4103/0366-6999.196568. Chin Med J (Engl). 2017. PMID: 28051032 Free PMC article. No abstract available.

2

Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family.

Liu HY, Huang J, Wu D, Li T, Guo LJ, Guo QN, Wang HD, Wang RL, Wang Y. Liu HY, et al. Among authors: huang j. Chin Med J (Engl). 2016 Jan 5;129(1):88-91. doi: 10.4103/0366-6999.172600. Chin Med J (Engl). 2016. PMID: 26712438 Free PMC article. No abstract available.

3

Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations.

Liu HY, Huang J, Li T, Wu D, Wang HD, Wang Y, Wang T, Guo LJ, Guo QN, Huang FF, Wang RL, Wang YT. Liu HY, et al. Among authors: huang ff, huang j. Mol Cytogenet. 2016 Apr 19;9:31. doi: 10.1186/s13039-016-0244-x. eCollection 2016. Mol Cytogenet. 2016. PMID: 27099631 Free PMC article.

4

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.

Liu HY, Huang J, Wang RL, Wang Y, Guo LJ, Li T, Wu D, Wang HD, Guo QN, Dong DQ. Liu HY, et al. Among authors: huang j. J Chin Med Assoc. 2016 Nov;79(11):633-638. doi: 10.1016/j.jcma.2016.08.002. Epub 2016 Oct 6. J Chin Med Assoc. 2016. PMID: 27720678 Free article.

5

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.

Wang R, Yang S, Xu M, Huang J, Liu H, Gu W, Zhang X. Wang R, et al. Among authors: huang j. Sci China Life Sci. 2018 Aug;61(8):947-953. doi: 10.1007/s11427-017-9232-6. Epub 2018 Mar 19. Sci China Life Sci. 2018. PMID: 29572776

6

A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.

Huang J, Liu HY, Wang RR, Xiao H, Wu D, Li T, Jiang YH, Zhang X. Huang J, et al. Chin Med J (Engl). 2019 Jul 20;132(14):1681-1688. doi: 10.1097/CM9.0000000000000327. Chin Med J (Engl). 2019. PMID: 31283647 Free PMC article.

7

Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing.

Liu HY, Huang J, Xiao H, Zhang MJ, Shi FF, Jiang YH, Du H, He Q, Wang ZY. Liu HY, et al. Among authors: huang j. Mol Genet Genomic Med. 2019 Dec;7(12):e952. doi: 10.1002/mgg3.952. Epub 2019 Nov 2. Mol Genet Genomic Med. 2019. PMID: 31677249 Free PMC article.

8

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.

Wang R, Han S, Liu H, Khan A, Xiaerbati H, Yu X, Huang J, Zhang X. Wang R, et al. Among authors: huang j. Front Genet. 2019 Oct 29;10:1060. doi: 10.3389/fgene.2019.01060. eCollection 2019. Front Genet. 2019. PMID: 31737043 Free PMC article.

9

Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases.

Liu HY, Zhou L, Zheng MY, Huang J, Wan S, Zhu A, Zhang M, Dong A, Hou L, Li J, Xu H, Lu B, Lu W, Liu P, Lu Y. Liu HY, et al. Among authors: huang j. Sci Rep. 2019 Dec 18;9(1):19365. doi: 10.1038/s41598-019-55832-1. Sci Rep. 2019. PMID: 31852928 Free PMC article.

10

[Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene].

Liu H, Huang J, Jiang Y, Guo L, Xiao H, Wang H. Liu H, et al. Among authors: huang j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):17-20. doi: 10.3760/cma.j.issn.1003-9406.2020.01.005. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 31922588 Chinese.

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