Chen J - Search Results

1

Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.

Cao B, Yang X, Chen Y, Huang Q, Wu Y, Gu Q, Xiao J, Yang H, Pan H, Chen J, Sun Y, Ren L, Zhao C, Deng Y, Yang Y, Chang X, Yang Z, Zhang Y, Niu Z, Wang J, Wu X, Wang J, Jiang Y. Cao B, et al. Among authors: chen j, chen y. Metab Brain Dis. 2017 Aug;32(4):1123-1131. doi: 10.1007/s11011-017-9985-4. Epub 2017 Apr 10. Metab Brain Dis. 2017. PMID: 28397151

2

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.

Chen L, Yan H, Cao B, Wu Y, Gu Q, Xiao J, Yang Y, Yang H, Shi Z, Yang Z, Pan H, Chang X, Chen J, Sun Y, Zhang Y, Wu X, Jiang Y, Wang J. Chen L, et al. Among authors: chen j. Int J Genomics. 2018 Jul 3;2018:2361068. doi: 10.1155/2018/2361068. eCollection 2018. Int J Genomics. 2018. PMID: 30057904 Free PMC article.

3

Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.

Guo Y, Zhang H, Fan L, Chen J, Zhang X, Yang H, Sun Y. Guo Y, et al. Among authors: chen j. BMC Pregnancy Childbirth. 2022 Jan 17;22(1):42. doi: 10.1186/s12884-021-04309-z. BMC Pregnancy Childbirth. 2022. PMID: 35038998 Free PMC article. Review.

4

[Clinical follow-up and genetic analysis of six cases with hypophosphatasia].

Liu M, Zhao Y, Liang XJ, Cao BY, Su C, Chen JJ, Gong CX. Liu M, et al. Among authors: chen jj. Zhonghua Er Ke Za Zhi. 2021 Mar 2;59(3):218-222. doi: 10.3760/cma.j.cn112140-20200918-00886. Zhonghua Er Ke Za Zhi. 2021. PMID: 33657697 Chinese.

5

[Clinical and genetic analysis of Noonan syndrome in 20 children].

Ding Y, Cao BY, Su C, Liu M, Chen JJ, Fan LJ, Gong CX. Ding Y, et al. Among authors: chen jj. Zhonghua Er Ke Za Zhi. 2021 Jul 2;59(7):588-593. doi: 10.3760/cma.j.cn112140-20210318-00228. Zhonghua Er Ke Za Zhi. 2021. PMID: 34405642 Chinese.

6

[Diagnosis and follow-up of 2 cases of pediatric nephrogenic syndrome of inappropriate antidiuresis resulting from activating mutation in AVPR2 and literature review].

Chen JJ, Gong CX, Wei LY, Cao BY, Wu D, Liu Y, Li WJ. Chen JJ, et al. Zhonghua Er Ke Za Zhi. 2021 Feb 2;59(2):125-130. doi: 10.3760/cma.j.cn112140-20200623-00660. Zhonghua Er Ke Za Zhi. 2021. PMID: 33548959 Review. Chinese.

7

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.

Liu Y, Chen Z, Kang L, He R, Song J, Liu Y, Shi C, Chen J, Dong H, Zhang Y, Ma Y, Wu T, Wang Q, Ding Y, Li X, Li D, Li M, Jin Y, Qin J, Yang Y. Liu Y, et al. Among authors: chen z, chen j. PLoS One. 2022 Mar 31;17(3):e0265766. doi: 10.1371/journal.pone.0265766. eCollection 2022. PLoS One. 2022. PMID: 35358224 Free PMC article.

8

[Ectopic adrenocorticotropic hormone syndrome in a girl secondary to atypical pulmonary carcinoid tumor].

Chen JJ, Cao BY, Su C. Chen JJ, et al. Zhonghua Er Ke Za Zhi. 2018 Jun 2;56(6):457-459. doi: 10.3760/cma.j.issn.0578-1310.2018.06.010. Zhonghua Er Ke Za Zhi. 2018. PMID: 29886610 Chinese. No abstract available.

9

[Genetic and clinical analysis of X-linked hypophosphatemic rickets].

Wei LY, Gong CX, Cao BY, Li XQ, Liang XJ, Li WJ, Wu D, Liu M, Su C, Chen JJ. Wei LY, et al. Among authors: chen jj. Zhonghua Er Ke Za Zhi. 2021 Aug 2;59(8):678-683. doi: 10.3760/cma.j.cn112140-20210311-00201. Zhonghua Er Ke Za Zhi. 2021. PMID: 34333921 Chinese.

10

[Consistency evaluation of 2 methods in detecting serum insulin-like growth factorⅠ in children].

Chen JJ, Gao XY, Cao BY, Peng YG, Su C, Gong CX. Chen JJ, et al. Zhonghua Er Ke Za Zhi. 2022 Aug 2;60(8):781-785. doi: 10.3760/cma.j.cn112140-20220112-00041. Zhonghua Er Ke Za Zhi. 2022. PMID: 35922188 Chinese.

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