Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

36,709 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.
Yang X, Zhang D, Shen S, Li P, Li M, Niu J, Ma D, Xu D, Li S, Guo X, Wang Z, Zhao Y, Ren H, Ling C, Wang Y, Fan Y, Shen J, Zhu Y, Wang D, Cui L, Chen L, Shi C, Dai Y. Yang X, et al. Among authors: li s, li m, li p. BMC Med Genomics. 2023 Oct 20;16(1):253. doi: 10.1186/s12920-023-01586-9. BMC Med Genomics. 2023. PMID: 37864208 Free PMC article.
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline.
Geng C, Zhang C, Li P, Tong Y, Zhu B, He J, Zhao Y, Yao F, Cui LY, Liang F, Wang Y, Wang Y, Jin H, Lang D, Liu S, Wang D, Park MS, Chen L, Peng J, Dai Y. Geng C, et al. Among authors: li p. Eur J Hum Genet. 2023 May;31(5):504-511. doi: 10.1038/s41431-022-01190-y. Epub 2022 Oct 5. Eur J Hum Genet. 2023. PMID: 36198806 Free PMC article.
The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Yu J, Deng J, Guo X, Shan J, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Zhou B, Li P, Liu Y, Wang Y, Yan C, Hong D, Yuan Y, Wang Z. Yu J, et al. Among authors: li p. Brain. 2021 Jul 28;144(6):1819-1832. doi: 10.1093/brain/awab077. Brain. 2021. PMID: 33693509 Free PMC article.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z. Deng J, et al. Among authors: li p. Am J Hum Genet. 2020 Jun 4;106(6):793-804. doi: 10.1016/j.ajhg.2020.04.011. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413282 Free PMC article.
Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease.
Deng J, Gu M, Miao Y, Yao S, Zhu M, Fang P, Yu X, Li P, Su Y, Huang J, Zhang J, Yu J, Li F, Bai J, Sun W, Huang Y, Yuan Y, Hong D, Wang Z. Deng J, et al. Among authors: li f, li p. J Med Genet. 2019 Nov;56(11):758-764. doi: 10.1136/jmedgenet-2019-106268. Epub 2019 Aug 14. J Med Genet. 2019. PMID: 31413119
36,709 results
You have reached the last available page of results. Please see the User Guide for more information.