Detalhe da pesquisa
1.
British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.
Rheumatology (Oxford)
; 59(3): 554-558, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31384939
2.
Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.
Blood
; 131(9): 974-981, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29284595
3.
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.
Hum Mutat
; 40(1): 90-96, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30328212
4.
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.
Rheumatology (Oxford)
; 56(2): 209-213, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27150194
5.
Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting as transfusion-dependent refractory haemophagocytosis.
Rheumatology (Oxford)
; 57(3): 582-583, 2018 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228362
6.
Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.
Front Immunol
; 8: 1410, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29163488
7.
Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.
Arthritis Rheumatol
; 68(8): 2044-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26992170
8.
Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.
Arthritis Res Ther
; 15(1): R30, 2013 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-23421920