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Clinical ApoA‐IV amyloid is associated with fibrillogenic signal sequence.
- Published in:
- Journal of Pathology, 2021, v. 255, n. 3, p. 311, doi. 10.1002/path.5770
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- Publication type:
- Article
Renal transplant outcomes in amyloidosis.
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- Nephrology Dialysis Transplantation, 2021, v. 36, n. 2, p. 355, doi. 10.1093/ndt/gfaa293
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- Publication type:
- Article
Laryngeal presentation of systemic apolipoprotein A-I-derived amyloidosis.
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- Laryngoscope, 2009, v. 119, n. 3, p. 608, doi. 10.1002/lary.20106
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- Publication type:
- Article
Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism--UK Single Center Experience.
- Published in:
- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01410
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- Publication type:
- Article
Characteristics and natural history of early-stage cardiac transthyretin amyloidosis.
- Published in:
- European Heart Journal, 2022, v. 43, n. 27, p. 2622, doi. 10.1093/eurheartj/ehac259
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- Publication type:
- Article
Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis.
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- European Heart Journal, 2020, v. 41, n. 14, p. 1439, doi. 10.1093/eurheartj/ehz905
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- Publication type:
- Article
Hyperimmunoglobulin D syndrome in an Indian family undiagnosed for 11 years.
- Published in:
- 2017
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- Publication type:
- Letter to the Editor
Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.
- Published in:
- Arthritis Research & Therapy, 2013, v. 15, n. 1, p. 1, doi. 10.1186/ar4171
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- Publication type:
- Article
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 4, p. 525, doi. 10.1093/clinchem/hvaa024
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- Publication type:
- Article
Deep phenotyping of p.(V142I)‐associated variant transthyretin amyloid cardiomyopathy: Distinct from wild‐type transthyretin amyloidosis?
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- European Journal of Heart Failure, 2024, v. 26, n. 2, p. 383, doi. 10.1002/ejhf.3088
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- Publication type:
- Article
Prevalence, characteristics and outcomes of older patients with hereditary versus wild‐type transthyretin amyloid cardiomyopathy.
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- European Journal of Heart Failure, 2023, v. 25, n. 4, p. 515, doi. 10.1002/ejhf.2776
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- Publication type:
- Article
Sex differences among patients with transthyretin amyloid cardiomyopathy – from diagnosis to prognosis.
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- European Journal of Heart Failure, 2022, v. 24, n. 12, p. 2355, doi. 10.1002/ejhf.2646
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- Publication type:
- Article
Progression of echocardiographic parameters and prognosis in transthyretin cardiac amyloidosis.
- Published in:
- 2022
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- Publication type:
- journal article
Evidence of B Cell Clonality and Investigation Into Properties of the IgM in Patients With Schnitzler Syndrome.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.569006
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- Publication type:
- Article
Comparison of different technetium-99m-labelled bone tracers for imaging cardiac amyloidosis.
- Published in:
- European Journal of Preventive Cardiology, 2023, v. 30, n. 3, p. e4, doi. 10.1093/eurjpc/zwac237
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- Publication type:
- Article
British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.
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- Rheumatology, 2020, v. 59, n. 3, p. 554, doi. 10.1093/rheumatology/kez334
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- Publication type:
- Article
Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting as transfusion-dependent refractory haemophagocytosis.
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- 2018
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- Publication type:
- Letter to the Editor
International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors.
- Published in:
- Rheumatology, 2017, v. 56, n. 12, p. 2102, doi. 10.1093/rheumatology/kex305
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- Publication type:
- Article
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue--a case series and genetic exploration.
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- Rheumatology, 2017, v. 56, n. 2, p. 209, doi. 10.1093/rheumatology/kew058
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- Publication type:
- Article
An unusual phenotype in Muckle–Wells syndrome associated with NLRP3 E311K.
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- Rheumatology, 2011, v. 50, n. 2, p. 419, doi. 10.1093/rheumatology/keq280
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- Publication type:
- Article
Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.
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- Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00645-8
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- Publication type:
- Article
Inflammatory Bowel Disease and Systemic AA Amyloidosis.
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- Digestive Diseases & Sciences, 2013, v. 58, n. 6, p. 1689, doi. 10.1007/s10620-012-2549-x
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- Publication type:
- Article
Disease progression in cardiac transthyretin amyloidosis is indicated by serial calculation of National Amyloidosis Centre transthyretin amyloidosis stage.
- Published in:
- ESC Heart Failure, 2020, v. 7, n. 6, p. 3942, doi. 10.1002/ehf2.12989
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- Publication type:
- Article
Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center.
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- 2022
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- Publication type:
- journal article
Prognostic utility of the Perugini grading of <sup>99m</sup>Tc-DPD scintigraphy in transthyretin (ATTR) amyloidosis and its relationship with skeletal muscle and soft tissue amyloid.
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- European Heart Journal - Cardiovascular Imaging, 2017, v. 18, n. 12, p. 1344, doi. 10.1093/ehjci/jew325
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- Publication type:
- Article
The complementary role of histology and proteomics for diagnosis and typing of systemic amyloidosis.
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- Journal of Pathology: Clinical Research, 2019, v. 5, n. 3, p. 145, doi. 10.1002/cjp2.126
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- Publication type:
- Article
Exploratory Study of MYD88 L265P, Rare NLRP3 Variants, and Clonal Hematopoiesis Prevalence in Patients With Schnitzler Syndrome.
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- Arthritis & Rheumatology, 2019, v. 71, n. 12, p. 2121, doi. 10.1002/art.41030
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- Publication type:
- Article
Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.
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- Arthritis & Rheumatology, 2016, v. 68, n. 8, p. 2044, doi. 10.1002/art.39683
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- Publication type:
- Article
Brief Report: Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome.
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- Arthritis & Rheumatology, 2014, v. 66, n. 1, p. 197, doi. 10.1002/art.38217
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- Publication type:
- Article
Analysis of the TTR gene in the investigation of amyloidosis: A 25‐year single UK center experience.
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- Human Mutation, 2019, v. 40, n. 1, p. 90, doi. 10.1002/humu.23669
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- Publication type:
- Article
Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations.
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- Human Mutation, 2014, v. 35, n. 9, p. E2403, doi. 10.1002/humu.22619
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- Publication type:
- Article
Diagnosis, pathogenesis and outcome in leucocyte chemotactic factor 2 (ALECT2) amyloidosis.
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- Nephrology Dialysis Transplantation, 2018, v. 33, n. 2, p. 241, doi. 10.1093/ndt/gfw375
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- Publication type:
- Article
Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation.
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- Nephrology Dialysis Transplantation, 2009, v. 24, n. 2, p. 676
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- Publication type:
- Article
Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis.
- Published in:
- European Heart Journal, 2017, v. 38, n. 24, p. 1905, doi. 10.1093/eurheartj/ehx047
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- Publication type:
- Article
Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant.
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- European Heart Journal, 2012, v. 33, n. 9, p. 1120, doi. 10.1093/eurheartj/ehr383
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- Publication type:
- Article
Genetic Approaches to Study Rheumatic Diseases and Its Implications in Clinical Practice.
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- Arthritis & Rheumatology, 2024, v. 76, n. 8, p. 1169, doi. 10.1002/art.42841
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- Publication type:
- Article
Amyloidoza pęcherza moczowego - opis przypadku i przegląd piśmiennictwa.
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- Hematology (2081-0768), 2018, v. 9, n. 4, p. 330, doi. 10.5603/Hem.2018.0039
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- Publication type:
- Article
Diagnostic amyloid proteomics: experience of the UK National Amyloidosis Centre.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2020, v. 58, n. 6, p. 948, doi. 10.1515/cclm-2019-1007
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- Publication type:
- Article
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
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- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0181874
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- Article
A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function.
- Published in:
- Innate Immunity, 2017, v. 23, n. 7, p. 578, doi. 10.1177/1753425917727063
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- Publication type:
- Article