Cao Y - Search Results

1

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.

Linpeng S, Liu J, Pan J, Cao Y, Teng Y, Liang D, Li Z, Wu L. Linpeng S, et al. Among authors: cao y. Biomed Res Int. 2018 Nov 15;2018:4032543. doi: 10.1155/2018/4032543. eCollection 2018. Biomed Res Int. 2018. PMID: 30581852 Free PMC article.

2

Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.

Cao Y, Tan H, Li Z, Linpeng S, Long X, Liang D, Wu L. Cao Y, et al. Int Heart J. 2018 Sep 26;59(5):1059-1068. doi: 10.1536/ihj.18-046. Epub 2018 Aug 11. Int Heart J. 2018. PMID: 30101859 Free article.

3

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.

Long X, Huang Y, Tan H, Li Z, Zhang R, Linpeng S, Lv W, Cao Y, Li H, Liang D, Wu L. Long X, et al. Among authors: cao y. Eye (Lond). 2018 Aug;32(8):1359-1364. doi: 10.1038/s41433-018-0084-5. Epub 2018 Apr 26. Eye (Lond). 2018. PMID: 29695758 Free PMC article.

4

Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings.

Zhang R, Linpeng S, Li Z, Cao Y, Tan H, Liang D, Wu L. Zhang R, et al. Among authors: cao y. Gene. 2018 Aug 30;669:42-46. doi: 10.1016/j.gene.2018.05.050. Epub 2018 May 17. Gene. 2018. PMID: 29777911

5

Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening.

Yang C, Linpeng S, Cao Y, Wu L. Yang C, et al. Among authors: cao y. Gene. 2019 Aug 20;710:9-16. doi: 10.1016/j.gene.2019.04.086. Epub 2019 May 18. Gene. 2019. PMID: 31112740

6

A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.

Ma R, Deng L, Xia Y, Wei X, Cao Y, Guo R, Zhang R, Guo J, Liang D, Wu L. Ma R, et al. Among authors: cao y. Sci Rep. 2017 Mar 21;7:44446. doi: 10.1038/srep44446. Sci Rep. 2017. PMID: 28322228 Free PMC article.

7

Innovative Integration of Robotic-Assisted Laparoscopic Telesurgery and Quantum Cryptography Communication in Urology: Clinical Application and Initial Experience.

Chu G, Yang X, Zhang X, Guan B, Zhao J, Gao Y, Yuan Y, Cao Y, Wang S, Li J, Niu H. Chu G, et al. Among authors: cao y. Int J Med Robot. 2025 Feb;21(1):e70028. doi: 10.1002/rcs.70028. Int J Med Robot. 2025. PMID: 39764650

8

Elucidating the mechanism of stigmasterol in acute pancreatitis treatment: insights from network pharmacology and in vitro/in vivo experiments.

Zhao X, Li F, Wen A, Yu X, Xu X, Wan C, Cao Y, Xin G, Huang W. Zhao X, et al. Among authors: cao y. Front Pharmacol. 2024 Dec 23;15:1485915. doi: 10.3389/fphar.2024.1485915. eCollection 2024. Front Pharmacol. 2024. PMID: 39764471 Free PMC article.

9

Clinical review and drug sensitivity test of Corynebacterium kroppenstedtii complex isolates in non-lactating patients with severe mastitis.

Liang Z, Zeng Z, Liao Y, Cao Y, Li D, Deng N, Lei Y, Long X, Shen C, Xu R. Liang Z, et al. Among authors: cao y. Front Microbiol. 2024 Dec 23;15:1501204. doi: 10.3389/fmicb.2024.1501204. eCollection 2024. Front Microbiol. 2024. PMID: 39764444 Free PMC article.

10

Investigating the added value of incorporating mammographic density to an integrated breast cancer risk model with questionnaire-based risk factors and polygenic risk score.

Mulder CV, Yang X, Jee YH, Scott CG, Gao C, Cao Y, Hurson AN, Eriksson M, Vachon CM, Hall P, Antoniou AC, Kraft P, Gierach GL, Garcia-Closas M, Choudhury PP. Mulder CV, et al. Among authors: cao y. Res Sq [Preprint]. 2024 Dec 19:rs.3.rs-5445786. doi: 10.21203/rs.3.rs-5445786/v1. Res Sq. 2024. PMID: 39764121 Free PMC article. Preprint.

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