Huang JW - Search Results

1

[Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].

Huang JW, Tang N, Li WG, Li ZT, Luo SQ, Li JW, Huang J, Yan TZ. Huang JW, et al. Among authors: huang j. Zhongguo Dang Dai Er Ke Za Zhi. 2016 Nov;18(11):1136-1140. doi: 10.7499/j.issn.1008-8830.2016.11.016. Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID: 27817780 Free PMC article. Chinese.

2

[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].

Tan JQ, Chen DY, Li ZT, Huang JW, Yan TZ, Cai R. Tan JQ, et al. Among authors: huang jw. Zhongguo Dang Dai Er Ke Za Zhi. 2016 Oct;18(10):1019-1025. doi: 10.7499/j.issn.1008-8830.2016.10.021. Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID: 27751224 Free PMC article. Chinese.

3

[Pancytopenia and metabolic decompensation in a neonate].

Tan JQ, Chen DY, Mo ZQ, Li ZT, Huang JW, Cai R, Yan TZ. Tan JQ, et al. Among authors: huang jw. Zhongguo Dang Dai Er Ke Za Zhi. 2016 Nov;18(11):1150-1153. doi: 10.7499/j.issn.1008-8830.2016.11.019. Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID: 27817783 Free PMC article. Chinese.

4

[CPT2 gene mutation analysis and prenatal diagnosis in a family with carnitine palmitoyltransferase II deficiency].

Tan JQ, Chen DY, Li WG, Li ZT, Huang JW, Yan TZ, Cai R. Tan JQ, et al. Among authors: huang jw. Zhongguo Dang Dai Er Ke Za Zhi. 2016 Dec;18(12):1282-1285. doi: 10.7499/j.issn.1008-8830.2016.12.017. Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID: 27974123 Free PMC article. Chinese.

5

[Genetic diagnosis of 10 neonates with primary carnitine deficiency].

Tan JQ, Chen DY, Li ZT, Yan TZ, Huang JW, Cai R. Tan JQ, et al. Among authors: huang jw. Zhongguo Dang Dai Er Ke Za Zhi. 2017 Nov;19(11):1150-1154. doi: 10.7499/j.issn.1008-8830.2017.11.005. Zhongguo Dang Dai Er Ke Za Zhi. 2017. PMID: 29132460 Free PMC article. Chinese.

6

Copy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease.

Li Z, Huang J, Liang B, Zeng D, Luo S, Yan T, Liao F, Huang J, Li J, Cai R, Deng X, Tang N. Li Z, et al. J Clin Lab Anal. 2019 Feb;33(2):e22660. doi: 10.1002/jcla.22660. Epub 2018 Sep 17. J Clin Lab Anal. 2019. PMID: 30221396 Free PMC article.

7

[Clinical and genetic analysis of a child with Noonan syndrome].

Tan J, Li Z, Li W, Liu B, Huang J, Yan T, Huang J, Cai R. Tan J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):588-591. doi: 10.3760/cma.j.issn.1003-9406.2019.06.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31055812 Chinese.

8

[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II].

Tan J, Pan L, Huang J, Li W, Li Z, Chang R, Li J, Yan T, Huang J, Yuan D, Cai R. Tan J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1163-1166. doi: 10.3760/cma.j.issn.1003-9406.2019.12.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31813138 Chinese.

9

Analysis of Copy Number Variations by Low-Depth Whole-Genome Sequencing in Fetuses with Congenital Cardiovascular Malformations.

Huang J, Deng X, Wang Y, Tang N, Zeng D. Huang J, et al. Cytogenet Genome Res. 2020;160(11-12):643-649. doi: 10.1159/000512605. Epub 2021 Mar 1. Cytogenet Genome Res. 2020. PMID: 33647914

10

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia.

Liu D, Zhang X, Yu L, Cai R, Ma X, Zheng C, Zhou Y, Liu Q, Wei X, Lin L, Yan T, Huang J, Mohandas N, An X, Xu X. Liu D, et al. Blood. 2014 Jul 31;124(5):803-11. doi: 10.1182/blood-2014-03-561779. Epub 2014 May 14. Blood. 2014. PMID: 24829204 Free PMC article. Clinical Trial.

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