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

27 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
MEF2C regulates NK cell effector functions through control of lipid metabolism.
Li JH, Zhou A, Lee CD, Shah SN, Ji JH, Senthilkumar V, Padilla ET, Ball AB, Feng Q, Bustillos CG, Riggan L, Greige A, Divakaruni AS, Annese F, Cooley Coleman JA, Skinner SA, Cowan CW, O'Sullivan TE. Li JH, et al. Among authors: annese f. Nat Immunol. 2024 May;25(5):778-789. doi: 10.1038/s41590-024-01811-2. Epub 2024 Apr 8. Nat Immunol. 2024. PMID: 38589619
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, Krawitz PM. Knaus A, et al. Among authors: annese f. Hum Mutat. 2016 Aug;37(8):737-44. doi: 10.1002/humu.23006. Epub 2016 May 19. Hum Mutat. 2016. PMID: 27120253 Free PMC article.
When Rett syndrome is due to genes other than MECP2.
Percy AK, Lane J, Annese F, Warren H, Skinner SA, Neul JL. Percy AK, et al. Among authors: annese f. Transl Sci Rare Dis. 2018 Apr 13;3(1):49-53. doi: 10.3233/TRD-180021. Transl Sci Rare Dis. 2018. PMID: 29682453 Free PMC article.
Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.
Neul JL, Skinner SA, Annese F, Lane J, Heydemann P, Jones M, Kaufmann WE, Glaze DG, Percy AK. Neul JL, et al. Among authors: annese f. Front Integr Neurosci. 2020 Feb 25;14:7. doi: 10.3389/fnint.2020.00007. eCollection 2020. Front Integr Neurosci. 2020. PMID: 32161522 Free PMC article.
Parental age effects and Rett syndrome.
Fang X, Baggett LM, Caylor RC, Percy AK, Neul JL, Lane JB, Glaze DG, Benke TA, Marsh ED, Motil KJ, Barrish JO, Annese FE, Skinner SA. Fang X, et al. Among authors: annese fe. Am J Med Genet A. 2024 Feb;194(2):160-173. doi: 10.1002/ajmg.a.63396. Epub 2023 Sep 28. Am J Med Genet A. 2024. PMID: 37768187
MECP2 Variants in Males: More Common than Previously Appreciated.
Ananth A, Fu C, Neul JL, Benke T, Marsh E, Suter B, Ferdinandsen K, Skinner SA, Annese F, Percy AK. Ananth A, et al. Among authors: annese f. Pediatr Neurol. 2024 Dec;161:263-267. doi: 10.1016/j.pediatrneurol.2024.09.022. Epub 2024 Sep 30. Pediatr Neurol. 2024. PMID: 39476560
Developmental delay in Rett syndrome: data from the natural history study.
Neul JL, Lane JB, Lee HS, Geerts S, Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK. Neul JL, et al. Among authors: annese f. J Neurodev Disord. 2014;6(1):20. doi: 10.1186/1866-1955-6-20. Epub 2014 Jul 22. J Neurodev Disord. 2014. PMID: 25071871 Free PMC article.
27 results