Qin Z - Search Results

1

Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis.

Lan Y, Yi S, Li M, Wang J, Yang Q, Yi S, Chen F, Huang L, Ruan Y, Shen Y, Luo J, Qin Z. Lan Y, et al. Among authors: qin z. Front Genet. 2021 Dec 20;12:783841. doi: 10.3389/fgene.2021.783841. eCollection 2021. Front Genet. 2021. PMID: 34987551 Free PMC article.

2

Mosaic UPD(7q)mat in a patient with silver Russell syndrome.

Su J, Wang J, Fan X, Fu C, Zhang S, Zhang Y, Qin Z, Li H, Luo J, Li C, Jiang T, Shen Y. Su J, et al. Among authors: qin z. Mol Cytogenet. 2017 Oct 17;10:36. doi: 10.1186/s13039-017-0337-1. eCollection 2017. Mol Cytogenet. 2017. PMID: 29075327 Free PMC article.

3

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. Among authors: qin z. Sci Rep. 2018 Jan 16;8(1):833. doi: 10.1038/s41598-017-17667-6. Sci Rep. 2018. PMID: 29339739 Free PMC article.

4

A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1.

Yang Q, Xu H, Luo J, Zhang Q, Xie B, Yi S, Rong X, Wang J, Qin Z, Jiang T, Lin L, Zuo Y, Fan X. Yang Q, et al. Among authors: qin z. Mol Med Rep. 2018 Mar;17(3):4433-4439. doi: 10.3892/mmr.2018.8436. Epub 2018 Jan 16. Mol Med Rep. 2018. PMID: 29344653 Free PMC article.

5

Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.

Gui B, Song Y, Hu X, Li H, Qin Z, Su J, Li C, Fan X, Li M, Luo J, Feng Y, Song L, Chen S, Gong C, Shen Y. Gui B, et al. Among authors: qin z. Gene. 2018 May 15;654:110-115. doi: 10.1016/j.gene.2018.02.047. Epub 2018 Feb 17. Gene. 2018. PMID: 29462647

6

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.

Fan X, Xie B, Zou J, Luo J, Qin Z, D'Gama AM, Shi J, Yi S, Yang Q, Wang J, Luo S, Chen S, Agrawal PB, Li Q, Shen Y. Fan X, et al. Among authors: qin z. Mol Genet Metab Rep. 2018 Jun 11;16:15-19. doi: 10.1016/j.ymgmr.2018.05.007. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 29988809 Free PMC article.

7

Two novel pathogenic variants of L1CAM gene in two fetuses with isolated X‑linked hydrocephaly: A case report.

Xie B, Luo J, Lei Y, Yang Q, Li M, Yi S, Luo S, Wang J, Qin Z, Yang Z, Wei H, Fan X. Xie B, et al. Among authors: qin z. Mol Med Rep. 2018 Dec;18(6):5760-5764. doi: 10.3892/mmr.2018.9583. Epub 2018 Oct 24. Mol Med Rep. 2018. PMID: 30365056

8

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Yang Q, Yi S, Li M, Xie B, Luo J, Wang J, Rong X, Zhang Q, Qin Z, Hang L, Feng S, Fan X. Yang Q, et al. Among authors: qin z. BMC Med Genet. 2019 Jun 13;20(1):106. doi: 10.1186/s12881-019-0842-7. BMC Med Genet. 2019. PMID: 31196117 Free PMC article.

9

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. Among authors: qin z. Mol Cytogenet. 2019 Dec 9;12:49. doi: 10.1186/s13039-019-0462-0. eCollection 2019. Mol Cytogenet. 2019. PMID: 31827621 Free PMC article.

10

A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability.

Yi S, Yang Q, Zuo Y, Li M, Luo J, Qin Z, Zhang Q, Li M, Huang L, Lu Y, Feng S, Fan X. Yi S, et al. Among authors: qin z. Blood Coagul Fibrinolysis. 2020 Mar;31(2):121-126. doi: 10.1097/MBC.0000000000000884. Blood Coagul Fibrinolysis. 2020. PMID: 31904612

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