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Journal Article
ARTHRITIS & RHEUMATOLOGY, ISSN 2326-5191, 08/2016, Volume 68, Issue 8, pp. 2044 - 2049
Objective. To investigate the molecular cause of persistent fevers in a patient returning from working overseas, in whom investigations for tropical diseases... 
ARTICULAR SYNDROME | TNF RECEPTOR | HETEROGENEITY | QUALITY | PHENOTYPE | MUTATIONS | RHEUMATOLOGY | FEVER
Journal Article
Blood, ISSN 0006-4971, 03/2018, Volume 131, Issue 9, pp. 974 - 981
To date, the pathogenic mechanisms underlying Schnitzler syndrome remain obscure, in particular, the interplay between the monoclonal protein and increased... 
RECEPTOR ANTAGONIST ANAKINRA | EFFICACY | SAFETY | CANAKINUMAB | PERIODIC SYNDROMES | INFLAMMASOME | DISEASE | FOLLOW-UP | HEMATOLOGY | RILONACEPT | MOSAICISM | Index Medicus | Abridged Index Medicus | Immunobiology and Immunotherapy
Journal Article
RHEUMATOLOGY, ISSN 1462-0324, 02/2017, Volume 56, Issue 2, pp. 209 - 213
Objective. This study was undertaken to characterize the phenotype and response to treatment in patients with autosomal dominant FMF caused by MEFV p. M694del... 
MEFV gene | haplotype | RISK-FACTORS | AMYLOIDOSIS | GENOTYPE | colchicine | AA amyloidosis | MUTATIONS | RHEUMATOLOGY | FMF | dominant inheritance
Journal Article
BRITISH JOURNAL OF DERMATOLOGY, ISSN 0007-0963, 01/2014, Volume 170, Issue 1, pp. 215 - 215
Journal Article
Rheumatology (United Kingdom), ISSN 1462-0324, 12/2017, Volume 56, Issue 12, pp. 2102 - 2108
Journal Article
CIRCULATION-CARDIOVASCULAR IMAGING, ISSN 1941-9651, 08/2016, Volume 9, Issue 8
Background-Calcific aortic stenosis (cAS) affects 3% of individuals aged >75 years, leading to heart failure and death unless the valve is replaced. Wild-type... 
POPULATION | CARDIAC & CARDIOVASCULAR SYSTEMS | aortic stenosis, calcific | ACID SCINTIGRAPHY | HEART-FAILURE | aortic valve stenosis | PRESERVED EJECTION FRACTION | PATHOLOGY | SUBAORTIC SEPTAL MYECTOMY | Congo red | HYPERTROPHIC CARDIOMYOPATHY | IMPLANTATION | ENHANCEMENT | biopsy | mass spectrometry | SENILE SYSTEMIC AMYLOIDOSIS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Immunohistochemistry | Prealbumin - genetics | Predictive Value of Tests | Cardiomyopathies - diagnostic imaging | Myocardium - chemistry | Humans | Tomography, Emission-Computed, Single-Photon | Male | Aortic Valve - surgery | Amyloid - analysis | Aortic Valve Stenosis - diagnostic imaging | Aortic Valve Stenosis - mortality | Cardiomyopathies - genetics | Cardiomyopathies - mortality | Mass Spectrometry | Aged, 80 and over | Female | Aortic Valve Stenosis - surgery | Severity of Illness Index | Genetic Predisposition to Disease | Echocardiography | Aortic Valve - diagnostic imaging | Amyloid Neuropathies, Familial - genetics | Risk Factors | Amyloid Neuropathies, Familial - diagnostic imaging | Kaplan-Meier Estimate | Proportional Hazards Models | Heart Valve Prosthesis Implantation - mortality | Myocardium - pathology | Treatment Outcome | Amyloid Neuropathies, Familial - epidemiology | Magnetic Resonance Imaging | Cardiomyopathies - epidemiology | Phenotype | Biopsy | Heart Valve Prosthesis Implantation - adverse effects | London | Aged | Amyloid Neuropathies, Familial - mortality | Mutation | Index Medicus
Journal Article
Arthritis and Rheumatology, ISSN 2326-5191, 2014, Volume 66, Issue 1, pp. 197 - 202
Objective. To identify the genetic cause of chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) using whole-exome sequencing in a... 
MUCKLE-WELLS-SYNDROME | GENETIC-VARIANTS | MUTATIONS | RHEUMATOLOGY | GALAXY | Brief Report
Journal Article
Frontiers in immunology, ISSN 1664-3224, 2017, Volume 8, p. 1410
Cryopyrin-associated periodic syndrome (CAPS) is caused by mutations. Recently, somatic mosaicism has been reported in some CAPS patients who were previously... 
Journal Article
Amyloid, ISSN 1350-6129, 6/2014, Volume 21, Issue 2, pp. 110 - 112
Abstract Familial Amyloidosis of Finnish type (FAF) is a rare type of autosomal dominant hereditary amyloidosis associated with genetic variants of gelsolin.... 
gelsolin | proteinuria | Amyloidosis | Gelsolin | Proteinuria | MEDICINE, RESEARCH & EXPERIMENTAL | MEDICINE, GENERAL & INTERNAL | FINNISH-TYPE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATION | Amyloidosis, Familial - genetics | Pedigree | Humans | Middle Aged | Male | Gelsolin - genetics | Nephrotic Syndrome - genetics | Kidney Diseases - genetics | Index Medicus
Journal Article
Pediatric Rheumatology, ISSN 1546-0096, 09/2015, Volume 13, Issue S1
Journal Article
Pediatric Rheumatology, ISSN 1546-0096, 11/2013, Volume 11, Issue S1
Journal Article
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