Qin ZL - Search Results

1

Malformations of cortical development: Fetal imaging and genetics.

Wang LL, Pan PS, Ma H, He C, Qin ZL, He W, Huang J, Tan SY, Meng DH, Wei HW, Yin AH. Wang LL, et al. Among authors: qin zl. Mol Genet Genomic Med. 2024 Apr;12(4):e2440. doi: 10.1002/mgg3.2440. Mol Genet Genomic Med. 2024. PMID: 38634212 Free PMC article.

2

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. 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

3

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.

Xie B, Fan X, Lei Y, Yi S, Yang Q, Wang J, Qin Z, Shen F, Luo J, Shen Y. Xie B, et al. Mol Med Rep. 2020 Jun;21(6):2296-2302. doi: 10.3892/mmr.2020.11036. Epub 2020 Mar 23. Mol Med Rep. 2020. PMID: 32236581 Free PMC article.

4

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.

Li W, Fan X, Zhang Y, Huang L, Jiang T, Qin Z, Su J, Luo J, Yi S, Zhang S, Shen Y. Li W, et al. BMC Med Genet. 2020 May 11;21(1):100. doi: 10.1186/s12881-020-01039-5. BMC Med Genet. 2020. PMID: 32393339 Free PMC article.

5

Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.

Li M, Yang Q, Yi S, Qin Z, Luo J, Fan X. Li M, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1303. doi: 10.1002/mgg3.1303. Epub 2020 Jun 10. Mol Genet Genomic Med. 2020. PMID: 32519510 Free PMC article.

6

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Su J, Lu W, Li M, Zhang Q, Chen F, Yi S, Yang Q, Yi S, Zhou X, Huang L, Shen Y, Luo J, Qin Z. Su J, et al. Mol Genet Genomic Med. 2021 Apr;9(4):e1624. doi: 10.1002/mgg3.1624. Epub 2021 Mar 16. Mol Genet Genomic Med. 2021. PMID: 33724704 Free PMC article.

7

Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort.

Su J, Qin Z, Fu H, Luo J, Huang Y, Huang P, Zhang S, Liu T, Lu W, Li W, Jiang T, Wei S, Yang S, Shen Y. Su J, et al. Ultrasound Obstet Gynecol. 2022 Feb;59(2):226-233. doi: 10.1002/uog.23702. Ultrasound Obstet Gynecol. 2022. PMID: 34090309 Free article.

8

Novel and recurrent ASPM mutations of founder effect in Chinese population.

Li M, Luo J, Yang Q, Chen F, Chen J, Qin J, He W, Chen J, Yi S, Qin Z, Yi S, Huang L, Qiu X, Pan P, Luo J, Shen Y. Li M, et al. Brain Dev. 2022 Sep;44(8):540-545. doi: 10.1016/j.braindev.2022.04.007. Epub 2022 Apr 28. Brain Dev. 2022. PMID: 35491272

9

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.

Yi S, Qin Z, Zhou X, Chen J, Yi S, Chen Q, Huang L, Zhang Q, Chen B, Luo J. Yi S, et al. Mol Genet Genomic Med. 2023 Sep;11(9):e2215. doi: 10.1002/mgg3.2215. Epub 2023 Jun 18. Mol Genet Genomic Med. 2023. PMID: 37330975 Free PMC article. Review.

10

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.

Yi S, Zhang X, Yang Q, Huang J, Zhou X, Qian J, Pan P, Yi S, Zhang S, Zhang Q, Tang X, Huang L, Zhang Q, Qin Z, Luo J. Yi S, et al. Heliyon. 2023 Sep 24;9(10):e20223. doi: 10.1016/j.heliyon.2023.e20223. eCollection 2023 Oct. Heliyon. 2023. PMID: 37810849 Free PMC article.

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