Liu Y - Search Results

1

Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.

Zheng H, Cheng C, He M, Zhou W, Li Y, Dai J, Zhang T, Xu KF, Zhang X, Tian X, Liu Y. Zheng H, et al. Among authors: liu y. Mol Genet Genomic Med. 2025 Jan;13(1):e70036. doi: 10.1002/mgg3.70036. Mol Genet Genomic Med. 2025. PMID: 39764684 Free PMC article.

2

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia.

Zhao X, Bian C, Liu K, Xu W, Liu Y, Tian X, Bai J, Xu KF, Zhang X. Zhao X, et al. Among authors: liu k, liu y. Orphanet J Rare Dis. 2021 Jul 1;16(1):293. doi: 10.1186/s13023-021-01840-2. Orphanet J Rare Dis. 2021. PMID: 34210339 Free PMC article.

3

Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCD.

Ge H, Zhou W, He M, Zheng H, Zhao X, Zhang T, Zhang Y, Shao C, Cheng C, Liu Y, Tian X, Xu KF, Zhang X. Ge H, et al. Among authors: liu y. Mol Genet Genomic Med. 2024 Jan;12(1):e2278. doi: 10.1002/mgg3.2278. Epub 2023 Sep 18. Mol Genet Genomic Med. 2024. PMID: 37723893 Free PMC article.

4

Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.

Zhao X, Ge H, Xu W, Cheng C, Zhou W, Xu Y, Fan J, Liu Y, Tian X, Xu KF, Zhang X. Zhao X, et al. Among authors: liu y. Front Med. 2023 Dec;17(6):1236-1249. doi: 10.1007/s11684-023-0997-7. Epub 2023 Sep 19. Front Med. 2023. PMID: 37725231

5

Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia.

Bian C, Zhao X, Liu Y, Chen M, Zheng S, Tian X, Xu KF. Bian C, et al. Among authors: liu y. Front Med. 2021 Dec;15(6):933-937. doi: 10.1007/s11684-021-0860-7. Epub 2021 Aug 25. Front Med. 2021. PMID: 34432223

6

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.

Liu Y, Xu Z, Feng R, Zhan Y, Wang J, Li G, Li X, Zhang W, Hu X, Tian X, Xu KF, Zhang X. Liu Y, et al. Orphanet J Rare Dis. 2017 May 30;12(1):104. doi: 10.1186/s13023-017-0656-7. Orphanet J Rare Dis. 2017. PMID: 28558743 Free PMC article.

7

A novel homozygous complex deletion in CFTR caused cystic fibrosis in a Chinese patient.

Liu K, Liu Y, Li X, Xu KF, Tian X, Zhang X. Liu K, et al. Among authors: liu y. Mol Genet Genomics. 2017 Oct;292(5):1083-1089. doi: 10.1007/s00438-017-1334-0. Epub 2017 Jun 15. Mol Genet Genomics. 2017. PMID: 28620757

8

Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.

Liu K, Xu W, Tian X, Xiao M, Zhao X, Zhang Q, Qu T, Song J, Liu Y, Xu KF, Zhang X. Liu K, et al. Among authors: liu y. Orphanet J Rare Dis. 2019 Oct 15;14(1):223. doi: 10.1186/s13023-019-1198-y. Orphanet J Rare Dis. 2019. PMID: 31615547 Free PMC article.

9

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.

Liu K, Xu W, Xiao M, Zhao X, Bian C, Zhang Q, Song J, Chen K, Tian X, Liu Y, Xu KF, Zhang X. Liu K, et al. Among authors: liu y. Orphanet J Rare Dis. 2020 Jun 15;15(1):150. doi: 10.1186/s13023-020-01393-w. Orphanet J Rare Dis. 2020. PMID: 32539862 Free PMC article.

10

Novel mutation c.1210-3C > G in cis with a poly-T tract of 5T affects CFTR mRNA splicing in a Chinese patient with cystic fibrosis.

Zhao X, Liu K, Xu W, Xiao M, Zhang Q, Song J, Chen K, Liu Y, Tian X, Xu KF, Zhang X. Zhao X, et al. Among authors: liu k, liu y. Front Med. 2022 Feb;16(1):150-155. doi: 10.1007/s11684-021-0846-5. Epub 2021 Jul 24. Front Med. 2022. PMID: 34302615

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