Guo Q - Search Results

1

Metabolic and biophysical study of the MFN2^Ile213Thr mutant causing Hereditary Motor and Sensory Neuropathy (HMSN).

Yang K, Hu HY, Zhang J, Yan YS, Chen WQ, Liu Y, Sun YQ, Guo Q, Yin CH. Yang K, et al. Among authors: guo q. Am J Transl Res. 2021 Oct 15;13(10):11501-11512. eCollection 2021. Am J Transl Res. 2021. PMID: 34786076 Free PMC article.

2

Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).

Zhang J, Chen WQ, Wang SW, Wang SX, Yu M, Guo Q, Yu YD. Zhang J, et al. Among authors: guo q. Mol Genet Genomic Med. 2020 Oct;8(10):e1440. doi: 10.1002/mgg3.1440. Epub 2020 Aug 7. Mol Genet Genomic Med. 2020. PMID: 32767732 Free PMC article.

3

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2.

Zhang J, Hu H, Mu W, Yu M, Chen W, Mi D, Yang K, Guo Q. Zhang J, et al. Among authors: guo q. Front Genet. 2021 Feb 16;12:619948. doi: 10.3389/fgene.2021.619948. eCollection 2021. Front Genet. 2021. PMID: 33664768 Free PMC article.

4

Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.

Hu HY, Zhang J, Qiu W, Liang C, Li CX, Wei TY, Feng ZK, Guo Q, Yang K, Liu ZG. Hu HY, et al. Among authors: guo q. J Cell Mol Med. 2021 May 25;25(13):6318-32. doi: 10.1111/jcmm.16608. Online ahead of print. J Cell Mol Med. 2021. PMID: 34032358 Free PMC article.

5

Genome sequencing identified a novel exonic microdeletion in the RUNX2 gene that causes cleidocranial dysplasia.

Zhang J, Li YZ, Chen WQ, Yuan JY, Li Q, Meng YX, Yu YD, Guo Q. Zhang J, et al. Among authors: guo q. Clin Chim Acta. 2022 Mar 1;528:6-12. doi: 10.1016/j.cca.2022.01.010. Epub 2022 Jan 19. Clin Chim Acta. 2022. PMID: 35065050 Free article.

6

Effects of family relationship and social support on the mental health of Chinese postpartum women.

Qi W, Liu Y, Lv H, Ge J, Meng Y, Zhao N, Zhao F, Guo Q, Hu J. Qi W, et al. Among authors: guo q. BMC Pregnancy Childbirth. 2022 Jan 25;22(1):65. doi: 10.1186/s12884-022-04392-w. BMC Pregnancy Childbirth. 2022. PMID: 35078423 Free PMC article.

7

Whole exome sequencing facilitated the diagnosis in four Chinese pediatric cases of Joubert syndrome related disorders.

Zhang J, Wang L, Chen W, Duan J, Meng Y, Yang H, Guo Q. Zhang J, et al. Among authors: guo q. Am J Transl Res. 2022 Jul 15;14(7):5088-5097. eCollection 2022. Am J Transl Res. 2022. PMID: 35958498 Free PMC article.

8

Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly).

Chen W, Li Y, Zhang J, Yuan Y, Sun D, Yuan J, Yang K, Liang Y, Guo Q. Chen W, et al. Among authors: guo q. Front Genet. 2023 Apr 6;14:1125473. doi: 10.3389/fgene.2023.1125473. eCollection 2023. Front Genet. 2023. PMID: 37091781 Free PMC article.

9

Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.

Yang K, Fu LM, Chu XY, Zhang J, Chen WQ, Yan YS, Wang YP, Zhang DL, Yin CH, Guo Q. Yang K, et al. Among authors: guo q. Mol Genet Genomic Med. 2023 Jul;11(7):e2186. doi: 10.1002/mgg3.2186. Epub 2023 Apr 30. Mol Genet Genomic Med. 2023. PMID: 37120754 Free PMC article.

10

RBM25 induces trophoblast epithelial-mesenchymal transition and preeclampsia disorder by enhancing the positive feedback loop between Grhl2 and RBM25.

Zhang J, Chen WQ, Yang K, Wang ZX, Sun DL, Peng YY, Yu M, Wang SX, Guo Q. Zhang J, et al. Among authors: guo q. Exp Biol Med (Maywood). 2023 Jul;248(14):1267-1277. doi: 10.1177/15353702231191199. Epub 2023 Sep 20. Exp Biol Med (Maywood). 2023. PMID: 37728157 Free PMC article.

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