Li YL - Search Results

1

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.

Liu MW, Hu CF, Jin JY, Xiang R, Fan LL, Li YL, Zhu L. Liu MW, et al. Among authors: li yl. Mol Biol Rep. 2024 Feb 27;51(1):371. doi: 10.1007/s11033-024-09235-9. Mol Biol Rep. 2024. PMID: 38411728

2

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL. Ma C, et al. Among authors: li yl. BMC Med Genet. 2019 Nov 6;20(1):169. doi: 10.1186/s12881-019-0917-5. BMC Med Genet. 2019. PMID: 31694554 Free PMC article.

3

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

Yu R, Liu L, Li YL, Fan LL. Yu R, et al. Among authors: li yl. Biomed Res Int. 2021 Jan 11;2021:4381272. doi: 10.1155/2021/4381272. eCollection 2021. Biomed Res Int. 2021. PMID: 33506017 Free PMC article.

4

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome.

Wang ZX, Liu YH, Dong Y, Li YL, Tang TY, Fan LL. Wang ZX, et al. Among authors: li yl. Biomed Res Int. 2021 Sep 24;2021:4535349. doi: 10.1155/2021/4535349. eCollection 2021. Biomed Res Int. 2021. PMID: 34608437 Free PMC article.

5

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly.

Wang T, Liu YX, Luo FM, Dong Y, Li YL, Fan LL. Wang T, et al. Among authors: li yl. Front Pediatr. 2021 Nov 29;9:774575. doi: 10.3389/fped.2021.774575. eCollection 2021. Front Pediatr. 2021. PMID: 34912761 Free PMC article.

6

Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion.

Fan LL, Sheng Y, Wang CY, Li YL, Liu JS. Fan LL, et al. Among authors: li yl. Front Genet. 2021 Dec 1;12:761003. doi: 10.3389/fgene.2021.761003. eCollection 2021. Front Genet. 2021. PMID: 34925452 Free PMC article.

7

A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis.

Du R, Tian H, Zhao B, Shi X, Sun Y, Qiu B, Li Y. Du R, et al. Mol Genet Metab Rep. 2023 Dec 6;38:101033. doi: 10.1016/j.ymgmr.2023.101033. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38149215 Free PMC article.

8

Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts.

Lin ZJ, Long JY, Li J, Wang FN, Chu W, Zhu L, Li YL, Fan LL. Lin ZJ, et al. Among authors: li yl, li j. Front Med (Lausanne). 2024 Feb 29;11:1332992. doi: 10.3389/fmed.2024.1332992. eCollection 2024. Front Med (Lausanne). 2024. PMID: 38487030 Free PMC article.

9

A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

Zhao MF, Zhang SL, Xiang Y, Wang Q, Cao GH, Zhang PP, Fan LL, Yu R, Li YL. Zhao MF, et al. Among authors: li yl. DNA Cell Biol. 2024 Jul;43(7):325-330. doi: 10.1089/dna.2023.0391. Epub 2024 May 3. DNA Cell Biol. 2024. PMID: 38700464

10

[Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene].

Zhi YN, Liu J, Zhen C, Li J, Wang F, Luo Y, Zhang P, Zhang M, Li Y. Zhi YN, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jan 10;40(1):76-80. doi: 10.3760/cma.j.cn511374-20220110-00022. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 36585006 Chinese.

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