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type	Concept
rdfs:label	Genetics
skos:inScheme	http://hub.abes.fr/referentiel/hwpjournalcoll
is Subject of	Collagen deposition in liver disease Association of the MIC-A gene and HLA-B51 with Behçet's disease in Arabs and non-Ashkenazi Jews in Israel Fcγ receptor IIa, IIIa, and IIIb polymorphisms in German patients with systemic lupus erythematosus: association with clinical symptoms EULAR NEWS Prevalence and determinants of one month hand pain and hand related disability in the elderly (Rotterdam study) Distinct tumour necrosis factor α, interferon γ, interleukin 10, and cytotoxic T cell antigen 4 gene polymorphisms in disease occurrence and end stage renal disease in Wegener’s granulomatosis Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q Expression of resistance markers to methotrexate predicts clinical improvement in patients with rheumatoid arthritis Interleukin 10 promoter microsatellite polymorphisms are associated with response to long term treatment with etanercept in patients with rheumatoid arthritis A family based study shows no association between rheumatoid arthritis and the PADI4 gene in a white French population Familial inflammatory inclusion body myositis Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort Gout, diuretics and the kidney Smoking interacts with genetic risk factors in the development of rheumatoid arthritis among older Caucasian women Characterisation of fibroblast-like cells in pannus lesions of patients with rheumatoid arthritis sharing properties of fibroblasts and chondrocytes Efficacy of allopurinol and benzbromarone for the control of hyperuricaemia. A pathogenic approach to the treatment of primary chronic gout Type II collagen is a target antigen of clonally expanded T cells in the synovium of patients with rheumatoid arthritis Lymphomas complicating Sjögren's syndrome and hepatitis C virus infection may share a common pathogenesis: chronic stimulation of rheumatoid factor B cells Evaluation of hand function in patients undergoing long term haemodialysis Differences between female and male patients with familial rheumatoid arthritis CpG-DNA derived from sera in systemic lupus erythematosus enhances ICAM-1 expression on endothelial cells Asthma and airways collapse in two heritable disorders of connective tissue Genetic association of interleukin-21 polymorphisms with systemic lupus erythematosus -463 G/A myeloperoxidase promoter polymorphism in giant cell arteritis Foxp3 expression in CD4+ T cells of patients with systemic lupus erythematosus: a comparative phenotypic analysis The MHC2TA -168A/G polymorphism and risk for rheumatoid arthritis: a meta-analysis of 6861 patients and 9270 controls reveals no evidence for association Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations Allele *2 of the HS1,2A enhancer of the Ig regulatory region associates with rheumatoid arthritis Involvement of a disintegrin and a metalloproteinase 8 (ADAM8) in osteoclastogenesis and pathological bone destruction Genetic variation in the nuclear factor κB pathway in relation to susceptibility to rheumatoid arthritis Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome Cenani-Lenz syndrome-like limb anomaly with more severe involvement of left side Gallbladder agenesis with choledochal cyst—a rare association: a case report and review of possible genetic or embryological links Spontaneous pneumothorax as manifestation of Marfan syndrome NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy Massive pulmonary embolism and thrombophilia Semilobar holoprosencephaly with 21q22 deletion: an autopsy report Evidently… Children infected with meningitis before 1 year of age were at increased risk for disability at 5 years of age Routine clinical variables predicted mortality in patients with heart failure and systolic dysfunction GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs Epidemiology of disabling neurological disease: how and why does disability occur? Posterior communicating artery aneurysm presenting with haemorrhage into an arachnoid cyst Fluid attenuation inversion recovery (FLAIR) images of dentatorubropallidoluysian atrophy: case report Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis Case-control study of presenilin-1 intronic polymorphism in sporadic early and late onset Alzheimer’s disease Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with “Lorenzo’s oil” Clinical range and MRI in Creutzfeldt-Jakob disease with heterozygosity at codon 129 and prion protein type 2 An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val) Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism Impaired RNA splicing of 5′-regulatory sequences of the astroglial glutamate transporter EAAT2 in human astrocytoma A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a) Myelopathy from intracranial dural arteriovenous fistula Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia Paradoxical absence of nuclear inclusion in cerebellar Purkinje cells of hereditary ataxias linked to CAG expansion Unilateral transplantation of human primary fetal tissue in four patients with Huntington’s disease: NEST-UK safety report ISRCTN no 36485475 Adult onset Niemann-Pick disease type C presenting with psychosis Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation Risk and protective effects of the APOE gene towards Alzheimer’s disease in the Kungsholmen project: variation by age and sex Smell testing: an additional tool for identification of adult Refsum’s disease SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies Cognitive profile in CADASIL patients Cardiomyopathy in motor neuron diseases MTHFR 677TT genotype increases the risk for cervical artery dissections Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1 Neuropathic pain correlates with myelinated fibre loss and cytokine profile in POEMS syndrome Frequency of GCH1 deletions in Dopa-responsive dystonia Folic acid supplementation: too much of a good thing? Folic acid use and major congenital malformations in offspring of women with epilepsy: a prospective study from the UK Epilepsy and Pregnancy Register Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases Influence of smoking on asthmatic symptoms and allergen sensitisation in early childhood Colchicine induced rhabdomyolysis The role of HLA genes in familial spondyloarthropathy: a comprehensive study of 70 multiplex families Differential association of polymorphisms in the TNFα region with psoriatic arthritis but not psoriasis Juvenile idiopathic arthritis (JIA) is primarily associated with HLA-DR8 but not DQ4 on the DR8-DQ4 haplotype Differential expression patterns of matrix metalloproteinases and their inhibitors during development of osteoarthritis in a transgenic mouse model Anti-telomere antibodies in systemic lupus erythematosus (SLE): a comparison with five antinuclear antibody assays in 430 patients with SLE and other rheumatic diseases Prognostic laboratory markers of joint damage in rheumatoid arthritis Analysis for crystals in synovial fluid: training of the analysts results in high consistency Toll-like receptor 4 gene polymorphisms and susceptibility to juvenile idiopathic arthritis Genetic characterisation of spontaneous ankylosing arthropathy with unique inheritance from Fas-deficient strains of mice Annexin A5 polymorphism (−1C→T) and the presence of anti-annexin A5 antibodies in the antiphospholipid syndrome Supportive evidence for a genetic association of the FCRL3 promoter polymorphism with rheumatoid arthritis TNFα polymorphisms and risk of psoriatic arthritis TLR4 mutations (Asp299Gly and Thr399Ile) are not associated with ankylosing spondylitis Lack of association between three vascular endothelial growth factor gene polymorphisms and systemic sclerosis: results from a multicenter EUSTAR study of European Caucasian patients Reduced telomere length in rheumatoid arthritis is independent of disease activity and duration Autoinflammatory gene mutations in Behçet’s disease Influence of the HLA-DRβ shared epitope on susceptibility to and clinical expression of rheumatoid arthritis in Chilean patients Analysis of T cell receptor V alpha polymorphisms in rheumatoid arthritis Rheumatic disease and the Australian Aborigine Rasch analysis of the Western Ontario MacMaster Questionnaire (WOMAC) in 2205 patients with osteoarthritis, rheumatoid arthritis, and fibromyalgia Unusual presentation of familial Mediterranean fever: role of genetic diagnosis Decreased T cell precursor frequencies to Epstein-Barr virus glycoprotein gp110 in peripheral blood correlate with disease activity and severity in patients with rheumatoid arthritis Beneficial effects of weight loss associated with moderate calorie/carbohydrate restriction, and increased proportional intake of protein and unsaturated fat on serum urate and lipoprotein levels in gout: a pilot study

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