Luo JS - Search Results

1

Characteristics of amino acid metabolism in preterm infants in Guangxi, China.

Lin CJ, Geng GX, Peng ZR, Huang XT, Wu LL, Xu YQ, Li W, Qian JL, Luo JS. Lin CJ, et al. Among authors: luo js. Zhongguo Dang Dai Er Ke Za Zhi. 2022 Feb 15;24(2):162-168. doi: 10.7499/j.issn.1008-8830.2109149. Zhongguo Dang Dai Er Ke Za Zhi. 2022. PMID: 35209981 Free PMC article. Chinese, English.

2

[Relationship between alanine aminotransferase and overweight or obesity in children].

Fan X, Chen SK, Tang Q, Luo JS, Feng Y. Fan X, et al. Among authors: luo js. Zhongguo Dang Dai Er Ke Za Zhi. 2011 Dec;13(12):951-4. Zhongguo Dang Dai Er Ke Za Zhi. 2011. PMID: 22172257 Free article. Chinese.

3

[Prevalence of hypertension and relationship between hypertension and obesity in children and adolescents in Nanning of Guangxi Province].

Luo JS, Chen SK, Fan X, Tang Q, Feng Y. Luo JS, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2014 Oct;16(10):1040-4. Zhongguo Dang Dai Er Ke Za Zhi. 2014. PMID: 25344188 Free article. Chinese.

4

Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism.

Fu C, Chen S, Chen R, Fan X, Luo J, Li C, Qian J. Fu C, et al. Arq Bras Endocrinol Metabol. 2014 Nov;58(8):828-32. doi: 10.1590/0004-2730000003436. Epub 2014 Nov 1. Arq Bras Endocrinol Metabol. 2014. PMID: 25465605

5

EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

Li C, Chen R, Fan X, Luo J, Qian J, Wang J, Xie B, Shen Y, Chen S. Li C, et al. BMC Med Genet. 2015 Apr 11;16:23. doi: 10.1186/s12881-015-0165-2. BMC Med Genet. 2015. PMID: 25928000 Free PMC article.

6

Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.

Hu X, Chen R, Fu C, Fan X, Wang J, Qian J, Yi S, Li C, Luo J, Su J, Zhang S, Xie B, Zheng H, Lai Y, Chen Y, Li H, Gu X, Chen S, Shen Y. Hu X, et al. Mol Cell Endocrinol. 2016 Mar 5;423:60-6. doi: 10.1016/j.mce.2016.01.007. Epub 2016 Jan 8. Mol Cell Endocrinol. 2016. PMID: 26777470

7

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.

Fu C, Luo S, Li Q, Xie B, Yang Q, Geng G, Lin C, Su J, Zhang Y, Wang J, Qin Z, Luo J, Chen S, Fan X. Fu C, et al. Sci Rep. 2018 Jan 16;8(1):833. doi: 10.1038/s41598-017-17667-6. Sci Rep. 2018. PMID: 29339739 Free PMC article.

8

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.

Su J, Fu H, Xie B, Lu W, Li W, Wei Y, Zhang Q, Wei S, Chen Q, Lu Y, Jiang T, Luo J, Qin Z. Su J, et al. Mol Cytogenet. 2019 Dec 9;12:49. doi: 10.1186/s13039-019-0462-0. eCollection 2019. Mol Cytogenet. 2019. PMID: 31827621 Free PMC article.

9

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus.

Yang Q, Hua R, Qian J, Yi S, Shen F, Zhang Q, Li M, Yi S, Luo J, Fan X. Yang Q, et al. Front Genet. 2020 Mar 11;11:198. doi: 10.3389/fgene.2020.00198. eCollection 2020. Front Genet. 2020. PMID: 32218803 Free PMC article.

10

Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.

Yang Q, Xu H, Luo J, Li M, Yi S, Zhang Q, Geng G, Feng S, Fan X. Yang Q, et al. BMC Med Genet. 2020 Apr 6;21(1):72. doi: 10.1186/s12881-020-01008-y. BMC Med Genet. 2020. PMID: 32252659 Free PMC article.

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