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

1,228 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P. Brunetti-Pierri N, et al. Eur J Hum Genet. 2011 Jan;19(1):102-7. doi: 10.1038/ejhg.2010.142. Epub 2010 Aug 25. Eur J Hum Genet. 2011. PMID: 20736978 Free PMC article.
Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors.
Williams RM, Taylor G, Ling ITC, Candido-Ferreira I, Fountain DM, Mayes S, Ateş-Kalkan PS, Haug JO, Price AJ, McKinney SA, Bozhilovh YK, Tyser RCV, Srinivas S, Hughes JR, Sauka-Spengler T. Williams RM, et al. Among authors: hughes jr. PLoS Biol. 2024 Oct 17;22(10):e3002786. doi: 10.1371/journal.pbio.3002786. eCollection 2024 Oct. PLoS Biol. 2024. PMID: 39418292 Free PMC article.
Focal deletions of a promoter tether activate the IRX3 oncogene in T-cell acute lymphoblastic leukemia.
Rahman S, Bloye G, Farah N, Demeulemeester J, Costa JR, O'Connor D, Pocock R, Rapoz-D'Silva T, Turna A, Wang L, Lee S, Fielding AK, Roels J, Jaksik R, Dawidowska M, Van Vlierberghe P, Hadjur S, Hughes JR, Davies JOJ, Gutierrez A, Kelliher MA, Van Loo P, Dawson MA, Mansour MR. Rahman S, et al. Among authors: hughes jr. Blood. 2024 Nov 28;144(22):2319-2326. doi: 10.1182/blood.2024024300. Blood. 2024. PMID: 39316719 Free article.
Biomarker Detection and Validation for Corneal Involvement in Patients With Acute Infectious Conjunctivitis.
Seitzman GD, Prajna L, Prajna NV, Sansanayudh W, Satitpitakul V, Laovirojjanakul W, Chen C, Zhong L, Ouimette K, Redd T, Deiner MC, Porco TC, McLeod SD, Lietman TM, Hinterwirth A, Doan T; SCORPIO Study Group. Seitzman GD, et al. JAMA Ophthalmol. 2024 Sep 1;142(9):865-871. doi: 10.1001/jamaophthalmol.2024.2891. JAMA Ophthalmol. 2024. PMID: 39145969 Free PMC article.
Single-cell technologies meet Hi-C.
Hughes JR, Davies JOJ. Hughes JR, et al. Nat Genet. 2024 Aug;56(8):1542-1543. doi: 10.1038/s41588-024-01855-y. Nat Genet. 2024. PMID: 39112687 No abstract available.
1,228 results