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Items: 21

1.

Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3.

Omoyinmi E, Mohamoud I, Gilmour K, Brogan PA, Eleftheriou D.

Front Immunol. 2018 Nov 1;9:2524. doi: 10.3389/fimmu.2018.02524. eCollection 2018.

2.

Autoinflammation due to homozygous S208 MEFV mutation.

Hong Y, Standing ASI, Nanthapisal S, Sebire N, Jolles S, Omoyinmi E, Verstegen RH, Brogan PA, Eleftheriou D.

Ann Rheum Dis. 2018 Oct 24. pii: annrheumdis-2018-214102. doi: 10.1136/annrheumdis-2018-214102. [Epub ahead of print] No abstract available.

3.

Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I.

Nanthapisal S, Eleftheriou D, Gilmour K, Leone V, Ramnath R, Omoyinmi E, Hong Y, Klein N, Brogan PA.

Front Immunol. 2018 Apr 11;9:735. doi: 10.3389/fimmu.2018.00735. eCollection 2018.

4.

Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.

Rowczenio DM, Pathak S, Arostegui JI, Mensa-Vilaro A, Omoyinmi E, Brogan P, Lipsker D, Scambler T, Owen R, Trojer H, Baginska A, Gillmore JD, Wechalekar AD, Lane T, Williams R, Youngstein T, Hawkins PN, Savic S, Lachmann HJ.

Blood. 2018 Mar 1;131(9):974-981. doi: 10.1182/blood-2017-10-810366. Epub 2017 Dec 28.

5.

Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11.

Keylock A, Hong Y, Saunders D, Omoyinmi E, Mulhern C, Roebuck D, Brogan P, Ganesan V, Eleftheriou D.

Neurology. 2018 Jan 16;90(3):136-138. doi: 10.1212/WNL.0000000000004828. Epub 2017 Dec 20. No abstract available.

6.

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.

Rowczenio DM, Gomes SM, Aróstegui JI, Mensa-Vilaro A, Omoyinmi E, Trojer H, Baginska A, Baroja-Mazo A, Pelegrin P, Savic S, Lane T, Williams R, Brogan P, Lachmann HJ, Hawkins PN.

Front Immunol. 2017 Oct 31;8:1410. doi: 10.3389/fimmu.2017.01410. eCollection 2017.

7.

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Omoyinmi E, Standing A, Keylock A, Price-Kuehne F, Melo Gomes S, Rowczenio D, Nanthapisal S, Cullup T, Nyanhete R, Ashton E, Murphy C, Clarke M, Ahlfors H, Jenkins L, Gilmour K, Eleftheriou D, Lachmann HJ, Hawkins PN, Klein N, Brogan PA.

PLoS One. 2017 Jul 27;12(7):e0181874. doi: 10.1371/journal.pone.0181874. eCollection 2017.

8.

De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis.

Mauro A, Omoyinmi E, Sebire NJ, Barnicoat A, Brogan P.

Case Rep Pediatr. 2017;2017:9682803. doi: 10.1155/2017/9682803. Epub 2017 Apr 24.

9.

Early-Onset Juvenile SLE Associated With a Novel Mutation in Protein Kinase C δ.

Nanthapisal S, Omoyinmi E, Murphy C, Standing A, Eisenhut M, Eleftheriou D, Brogan PA.

Pediatrics. 2017 Jan;139(1). pii: e20160781. doi: 10.1542/peds.2016-0781. Epub 2016 Dec 21.

10.

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.

Standing AS, Malinova D, Hong Y, Record J, Moulding D, Blundell MP, Nowak K, Jones H, Omoyinmi E, Gilmour KC, Medlar A, Stanescu H, Kleta R, Anderson G, Nanthapisal S, Gomes SM, Klein N, Eleftheriou D, Thrasher AJ, Brogan PA.

J Exp Med. 2017 Jan;214(1):59-71. doi: 10.1084/jem.20161228. Epub 2016 Dec 19.

11.

Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases.

Nanthapisal S, Murphy C, Omoyinmi E, Hong Y, Standing A, Berg S, Ekelund M, Jolles S, Harper L, Youngstein T, Gilmour K, Klein NJ, Eleftheriou D, Brogan PA.

Arthritis Rheumatol. 2016 Sep;68(9):2314-22. doi: 10.1002/art.39699.

12.

Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.

Rowczenio DM, Trojer H, Omoyinmi E, Aróstegui JI, Arakelov G, Mensa-Vilaro A, Baginska A, Silva Pilorz C, Wang G, Lane T, Brogan P, Hawkins PN, Lachmann HJ.

Arthritis Rheumatol. 2016 Aug;68(8):2044-9. doi: 10.1002/art.39683.

13.

Mitochondrial and oxidative stress genes are differentially expressed in neutrophils of sJIA patients treated with tocilizumab: a pilot microarray study.

Omoyinmi E, Hamaoui R, Bryant A, Jiang MC, Athigapanich T, Eleftheriou D, Hubank M, Brogan P, Woo P.

Pediatr Rheumatol Online J. 2016 Feb 9;14(1):7. doi: 10.1186/s12969-016-0067-7.

14.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, de Jesus AA, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.

J Clin Invest. 2016 Feb;126(2):795. doi: 10.1172/JCI86020. Epub 2016 Feb 1. No abstract available.

15.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.

J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20. Erratum in: J Clin Invest. 2016 Feb;126(2):795. Rother, Kristina [corrected to Rother, Kristina I].

16.

Stimulator of interferon genes-associated vasculitis of infancy.

Omoyinmi E, Melo Gomes S, Nanthapisal S, Woo P, Standing A, Eleftheriou D, Klein N, Brogan PA.

Arthritis Rheumatol. 2015 Mar;67(3):808. doi: 10.1002/art.38998. No abstract available.

17.

Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.

Omoyinmi E, Melo Gomes S, Standing A, Rowczenio DM, Eleftheriou D, Klein N, Aróstegui JI, Lachmann HJ, Hawkins PN, Brogan PA.

Arthritis Rheumatol. 2014 Jan;66(1):197-202. doi: 10.1002/art.38217.

18.

Gene hunting in autoinflammation.

Standing A, Omoyinmi E, Brogan P.

Clin Transl Allergy. 2013 Sep 26;3(1):32. doi: 10.1186/2045-7022-3-32.

19.

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature.

Kluk J, Rustin M, Brogan PA, Omoyinmi E, Rowczenio DM, Willcocks LC, Melly L, Lachmann HJ.

Br J Dermatol. 2014 Jan;170(1):215-7. doi: 10.1111/bjd.12600. Review. No abstract available.

20.

Association of the IL-10 gene family locus on chromosome 1 with juvenile idiopathic arthritis (JIA).

Omoyinmi E, Forabosco P, Hamaoui R, Bryant A, Hinks A, Ursu S; Childhood Arthritis Prospective Study (CAPS); BSPAR study group; Childhood Arthritis Response to Medication Study (CHARMS), Wedderburn LR, Thomson W, Lewis CM, Woo P.

PLoS One. 2012;7(10):e47673. doi: 10.1371/journal.pone.0047673. Epub 2012 Oct 18.

21.

Th1 and Th17 cell subpopulations are enriched in the peripheral blood of patients with systemic juvenile idiopathic arthritis.

Omoyinmi E, Hamaoui R, Pesenacker A, Nistala K, Moncrieffe H, Ursu S, Wedderburn LR, Woo P.

Rheumatology (Oxford). 2012 Oct;51(10):1881-6. Epub 2012 Jul 5.

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