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Page 1
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J, Chang L, Nadat F, Poulter JA, Ibbotson A, Lara-Reyna S, Watson CM, Carter C, Pournara LP, Zernicke J, Ross RL, Cargo C, Lyons PA, Smith KGC, Del Galdo F, Rech J, Fautrel B, Feist E, McDermott MF, Savic S; ImmunAID Consortium. Topping J, et al. Among authors: poulter ja. Arthritis Rheumatol. 2024 Nov 4. doi: 10.1002/art.43054. Online ahead of print. Arthritis Rheumatol. 2024. PMID: 39492681
Inflammasome inhibition under physiological and pharmacological conditions.
Caseley EA, Poulter JA, Rodrigues F; Immunome Project Consortium for Autoinflammatory Disorders (ImmunAID); McDermott MF. Caseley EA, et al. Among authors: poulter ja. Genes Immun. 2020 Aug;21(4):211-223. doi: 10.1038/s41435-020-0104-x. Epub 2020 Jul 17. Genes Immun. 2020. PMID: 32681062 Free article. Review.
Recovery of Bone Marrow Function in VEXAS Syndrome-potential Role for Romiplostim.
Al-Hakim A, Cull A, Topping J, Nadat F, Milek J, Alhefzi R, McDermott MF, Owen R, Cargo C, Poulter J, Kent DG, Savic S. Al-Hakim A, et al. Hemasphere. 2023 Jul 26;7(8):e934. doi: 10.1097/HS9.0000000000000934. eCollection 2023 Aug. Hemasphere. 2023. PMID: 37520777 Free PMC article. No abstract available.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. Among authors: poulter ja. J Med Genet. 2024 Jun 20;61(7):689-698. doi: 10.1136/jmg-2023-109728. J Med Genet. 2024. PMID: 38458752 Free PMC article.
IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy.
Tanner G, Barrow R, Ajaib S, Al-Jabri M, Ahmed N, Pollock S, Finetti M, Rippaus N, Bruns AF, Syed K, Poulter JA, Matthews L, Hughes T, Wilson E, Johnson C, Varn FS, Brüning-Richardson A, Hogg C, Droop A, Gusnanto A, Care MA, Cutillo L, Westhead DR, Short SC, Jenkinson MD, Brodbelt A, Chakrabarty A, Ismail A, Verhaak RGW, Stead LF. Tanner G, et al. Among authors: poulter ja. Genome Biol. 2024 Feb 7;25(1):45. doi: 10.1186/s13059-024-03172-3. Genome Biol. 2024. PMID: 38326875 Free PMC article.
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Harris EL, Roy V, Montagne M, Rose AMS, Livesey H, Reijnders MRF, Hobson E, Sansbury FH, Willemsen MH, Pfundt R, Warren D, Long V, Carr IM, Brunner HG, Sheridan EG, Firth HV, Lavigne P, Poulter JA. Harris EL, et al. Among authors: poulter ja. Am J Hum Genet. 2024 Jan 4;111(1):119-132. doi: 10.1016/j.ajhg.2023.11.010. Epub 2023 Dec 22. Am J Hum Genet. 2024. PMID: 38141607 Free PMC article.
Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.
Hany U, Watson CM, Liu L, Nikolopoulos G, Smith CEL, Poulter JA, Brown CJ, Patel A, Rodd HD, Balmer R, Harfoush A, Al-Jawad M, Inglehearn CF, Mighell AJ. Hany U, et al. Among authors: poulter ja. J Dent Res. 2024 Jan;103(1):22-30. doi: 10.1177/00220345231203694. Epub 2023 Dec 6. J Dent Res. 2024. PMID: 38058155 Free PMC article.
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, Nikolopoulos G, Balmer R, Brown CJ, Patel A, Simmonds J, Charlton R, Acosta de Camargo MG, Rodd HD, Jafri H, Antanaviciute A, Moffat M, Al-Jawad M, Inglehearn CF, Mighell AJ. Hany U, et al. Among authors: poulter ja. J Med Genet. 2024 Mar 21;61(4):347-355. doi: 10.1136/jmg-2023-109510. J Med Genet. 2024. PMID: 37979963 Free PMC article.
71 results