Li Z - Search Results

1

Two tSNPs in BRIP1 are associated with breast cancer during TDT analysis.

Li X, Li Z, Yang M, Luo Y, Hu L, Xiao Z, Huang A, Huang J. Li X, et al. Among authors: li z. Mol Genet Genomic Med. 2021 Feb;9(2):e1578. doi: 10.1002/mgg3.1578. Epub 2021 Jan 5. Mol Genet Genomic Med. 2021. PMID: 33403820 Free PMC article.

2

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

Liu Y, Xue J, Li Z, Linpeng S, Tan H, Teng Y, Liang D, Wu L. Liu Y, et al. Among authors: li z. Mol Genet Genomic Med. 2020 Mar;8(3):e1127. doi: 10.1002/mgg3.1127. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943912 Free PMC article.

3

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.

Liu J, Lin P, Pang J, Jia Z, Peng Y, Xi H, Wu L, Li Z, Wang H. Liu J, et al. Among authors: li z. Mol Genet Genomic Med. 2020 Aug;8(8):e1313. doi: 10.1002/mgg3.1313. Epub 2020 Jun 15. Mol Genet Genomic Med. 2020. PMID: 32543076 Free PMC article.

4

Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome.

Zeng L, Li Z, Pan L, Li H, Wu J, Yuan X, Li Z, Liang D, Wu L. Zeng L, et al. Among authors: li z, li h. Clin Genet. 2021 Feb;99(2):281-285. doi: 10.1111/cge.13856. Epub 2020 Oct 10. Clin Genet. 2021. PMID: 33009817

5

Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study.

Zhang L, Pan L, Teng Y, Liang D, Li Z, Wu L. Zhang L, et al. Among authors: li z. Clin Genet. 2021 Aug;100(2):219-226. doi: 10.1111/cge.13976. Epub 2021 Jun 9. Clin Genet. 2021. PMID: 33942288

6

Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.

Liu J, Liu Q, Yang S, Ma N, Pang J, Peng Y, Xi H, Jia Z, Luo Y, Jiang M, Teng Y, Yu W, Li Z, Wang H. Liu J, et al. Among authors: li z. Mol Genet Genomic Med. 2021 Aug;9(8):e1750. doi: 10.1002/mgg3.1750. Epub 2021 Jul 22. Mol Genet Genomic Med. 2021. PMID: 34293831 Free PMC article. Review.

7

Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa.

Wang Y, Teng Y, Liang D, Li Z, Wu L. Wang Y, et al. Among authors: li z. Front Genet. 2021 Sep 9;12:715100. doi: 10.3389/fgene.2021.715100. eCollection 2021. Front Genet. 2021. PMID: 34567070 Free PMC article.

8

Berberine exerts an anti-inflammatory role in ocular Behcet's disease.

Yang Y, Wang Q, Xie M, Liu P, Qi X, Liu X, Li Z. Yang Y, et al. Among authors: li z. Mol Med Rep. 2017 Jan;15(1):97-102. doi: 10.3892/mmr.2016.5980. Epub 2016 Dec 5. Mol Med Rep. 2017. PMID: 27922688 Free PMC article.

9

Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.

Li Z, Peng Y, Hufnagel RB, Hu YC, Zhao C, Queme LF, Khuchua Z, Driver AM, Dong F, Lu QR, Lindquist DM, Jankowski MP, Stottmann RW, Kao WWY, Huang T. Li Z, et al. Hum Mol Genet. 2017 Oct 1;26(19):3776-3791. doi: 10.1093/hmg/ddx262. Hum Mol Genet. 2017. PMID: 28934388 Free PMC article.

10

Systemic administration of AAV-Slc25a46 mitigates mitochondrial neuropathy in Slc25a46-/- mice.

Yang L, Slone J, Li Z, Lou X, Hu YC, Queme LF, Jankowski MP, Huang T. Yang L, et al. Among authors: li z. Hum Mol Genet. 2020 Mar 13;29(4):649-661. doi: 10.1093/hmg/ddz277. Hum Mol Genet. 2020. PMID: 31943007 Free PMC article.

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