Lin XF - Search Results

1

In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

Ruan DD, Zou J, Liao LS, Ji MD, Wang RL, Zhang JH, Zhang L, Gao MZ, Chen Q, Yu HP, Wei W, Li YF, Li H, Lin F, Luo JW, Lin XF. Ruan DD, et al. Among authors: lin xf. Front Neurosci. 2024 Jul 31;18:1415576. doi: 10.3389/fnins.2024.1415576. eCollection 2024. Front Neurosci. 2024. PMID: 39145297 Free PMC article.

2

Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.

Yang X, Lin X, Zhu Y, Luo J, Lin G. Yang X, et al. Mol Med Rep. 2018 Jun;17(6):7553-7558. doi: 10.3892/mmr.2018.8838. Epub 2018 Mar 29. Mol Med Rep. 2018. PMID: 29620206 Free PMC article.

3

Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.

Lin X, Zhu Y, Luo J, Huang J. Lin X, et al. J Pediatr Endocrinol Metab. 2018 Jul 26;31(7):789-797. doi: 10.1515/jpem-2017-0451. J Pediatr Endocrinol Metab. 2018. PMID: 29858904

4

Genetic mutation of familial dilated cardiomyopathy based on next‑generation semiconductor sequencing.

Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X. Lin XF, et al. Among authors: lin x. Mol Med Rep. 2018 Nov;18(5):4271-4280. doi: 10.3892/mmr.2018.9455. Epub 2018 Sep 5. Mol Med Rep. 2018. PMID: 30221713 Free PMC article.

5

Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene.

Chen L, Wang HL, Zhu YB, Jin Z, Huang JB, Lin XF, Luo JW, Fang ZT. Chen L, et al. Among authors: lin xf. Cell Death Dis. 2020 Mar 2;11(3):159. doi: 10.1038/s41419-020-2354-y. Cell Death Dis. 2020. PMID: 32123165 Free PMC article.

6

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.

Zhang JH, Ruan DD, Hu YN, Ruan XL, Zhu YB, Yang X, Wu JB, Lin XF, Luo JW, Tang FQ. Zhang JH, et al. Among authors: lin xf. Biomed Res Int. 2021 May 10;2021:9973161. doi: 10.1155/2021/9973161. eCollection 2021. Biomed Res Int. 2021. PMID: 34046503 Free PMC article.

7

A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1.

Zhang YP, Lin B, Ji YY, Hu YN, Lin XF, Tang Y, Zhang JH, Wu SJ, Cai SL, Zhou YF, Chen T, Fang ZT, Luo JW. Zhang YP, et al. Among authors: lin b, lin xf. Thromb J. 2021 Sep 8;19(1):64. doi: 10.1186/s12959-021-00316-4. Thromb J. 2021. PMID: 34496879 Free PMC article.

8

Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.

Wei W, Zheng XF, Ruan DD, Gan YM, Zhang YP, Chen Y, Lin XF, Tang FQ, Luo JW, Li YF. Wei W, et al. Among authors: lin xf. Neurol Sci. 2022 Apr;43(4):2555-2563. doi: 10.1007/s10072-021-05673-6. Epub 2021 Nov 16. Neurol Sci. 2022. PMID: 34783933

9

A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.

Hu YN, Gan YM, Zhang YP, Ruan DD, Zhu YB, Lin XF, Fang ZT, Liao LS, Tang FQ, Luo JW. Hu YN, et al. Among authors: lin xf. J Gene Med. 2022 Feb;24(2):e3398. doi: 10.1002/jgm.3398. Epub 2021 Dec 30. J Gene Med. 2022. PMID: 34786791

10

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A.

Zhu YB, Zhang JH, Ji YY, Hu YN, Wang HL, Ruan DD, Meng XR, Lin XF, Luo JW, Chen W. Zhu YB, et al. Among authors: lin xf. Cardiol Res Pract. 2022 Apr 28;2022:9716045. doi: 10.1155/2022/9716045. eCollection 2022. Cardiol Res Pract. 2022. PMID: 35529058 Free PMC article.

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