Tian Y - Search Results

1

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.

Li J, Xu H, Sun J, Tian Y, Liu D, Qin Y, Liu H, Li R, Neng L, Deng X, Xue B, Yu C, Tang W. Li J, et al. Among authors: tian y. Biomed Res Int. 2021 Mar 4;2021:6624744. doi: 10.1155/2021/6624744. eCollection 2021. Biomed Res Int. 2021. PMID: 34258273 Free PMC article.

2

Perrault syndrome: Clinical report and retrospective analysis.

Pan Z, Xu H, Tian Y, Liu D, Liu H, Li R, Dou Q, Zuo B, Zhai R, Tang W, Lu W. Pan Z, et al. Among authors: tian y. Mol Genet Genomic Med. 2020 Oct;8(10):e1445. doi: 10.1002/mgg3.1445. Epub 2020 Aug 7. Mol Genet Genomic Med. 2020. PMID: 32767731 Free PMC article.

3

Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype.

Mi Y, Liu D, Zeng B, Tian Y, Zhang H, Chen B, Zhang J, Xue H, Tang W, Zhao Y, Xu H. Mi Y, et al. Among authors: tian y. Mol Genet Genomic Med. 2021 Jan;9(1):e1569. doi: 10.1002/mgg3.1569. Epub 2020 Dec 10. Mol Genet Genomic Med. 2021. PMID: 33301229 Free PMC article.

4

Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.

Pan Z, Xu H, Chen B, Tian Y, Zhang L, Zhang S, Liu D, Liu H, Li R, Hu X, Guan J, Tang W, Lu W. Pan Z, et al. Among authors: tian y. Mol Genet Genomic Med. 2021 Feb;9(2):e1573. doi: 10.1002/mgg3.1573. Epub 2020 Dec 17. Mol Genet Genomic Med. 2021. PMID: 33332773 Free PMC article.

5

Auditory Neuropathy Spectrum Disorder (ANSD)-Clinical Characteristics and Pathogenic Variant Analysis of Three Nonsyndromic Deafness Families.

Zhai R, Feng H, Li Q, Lu W, Liu D, Tian Y, Liu H, Li R, Zuo B, Tang W, Xu H, Chen B. Zhai R, et al. Among authors: tian y. Biomed Res Int. 2020 Dec 21;2020:8843539. doi: 10.1155/2020/8843539. eCollection 2020. Biomed Res Int. 2020. PMID: 33426078 Free PMC article.

6

High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing.

Zhang S, Xu H, Tian Y, Liu D, Hou X, Zeng B, Chen B, Liu H, Li R, Li X, Zuo B, Tang R, Tang W. Zhang S, et al. Among authors: tian y. Front Genet. 2021 Jun 4;12:643546. doi: 10.3389/fgene.2021.643546. eCollection 2021. Front Genet. 2021. PMID: 34149797 Free PMC article.

7

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.

Tian Y, Xu H, Liu D, Zhang J, Yang Z, Zhang S, Liu H, Li R, Tian Y, Zeng B, Li T, Lin Q, Wang H, Li X, Lu W, Shi Y, Zhang Y, Zhang H, Jiang C, Xu Y, Chen B, Liu J, Tang W. Tian Y, et al. Mol Genet Genomic Med. 2021 Aug;9(8):e1734. doi: 10.1002/mgg3.1734. Epub 2021 Jun 25. Mol Genet Genomic Med. 2021. PMID: 34170635 Free PMC article.

8

A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family.

Zeng B, Xu H, Tian Y, Lin Q, Feng H, Zhang Z, Li S, Tang W. Zeng B, et al. Among authors: tian y. Chin Med J (Engl). 2022 Nov 5;135(21):2631-2633. doi: 10.1097/CM9.0000000000001966. Chin Med J (Engl). 2022. PMID: 35089886 Free PMC article. No abstract available.

9

Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing.

Zeng B, Xu H, Yu Y, Li S, Tian Y, Li T, Yang Z, Wang H, Wang G, Chang M, Tang W. Zeng B, et al. Among authors: tian y. Front Genet. 2022 Dec 7;13:1057293. doi: 10.3389/fgene.2022.1057293. eCollection 2022. Front Genet. 2022. PMID: 36568381 Free PMC article.

10

A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.

Xu CB, Zhou XD, Xu HE, Zhao YL, Zhao XH, Liu DH, Tian YA, Hu XX, Guan JY, Guo JC, Tang WX, Xue X. Xu CB, et al. BMC Nephrol. 2021 Mar 10;22(1):83. doi: 10.1186/s12882-021-02276-3. BMC Nephrol. 2021. PMID: 33691640 Free PMC article.

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