Results 61 to 70 of about 131,340 (225)
ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis
Arthritis &Rheumatology, EarlyView.Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen +21 more
wiley +1 more source
Clinical data and hearing of individuals with Alport syndrome
Brazilian Journal of Otorhinolaryngology, 2008 Summary: Alport Syndrome (AS) is a hereditary disease, characterized by nephropathy, often times with sensorineural hearing loss and ocular defects. Aim: to analyze the clinical and hearing information from individuals with AS, more specifically the ...
Fatima Regina Abreu Alves +1 more
doaj +1 more source
Arthritis &Rheumatology, EarlyView.Objective Proteome‐wide risk models for lupus remain underexplored. We developed classification models to identify lupus from serum proteomic profiles. Methods Patients with lupus and individuals with other autoimmune diseases in the UK Biobank were included.
Mehmet Hocaoǧlu +2 more
wiley +1 more source
Hereditary non-polyposis colorectal carcinoma (HNPCC) : morphological and immunohistochemical studies [PDF]
, 2005 Includes bibliographical references.Families with hereditary non-polyposis colorectal carcinoma (HNPCC) are not uncommon along the West-Coast of South Africa.
Holm, Hannes
core +1 more source
Arthritis &Rheumatology, EarlyView.Objective Immune complexes (ICs), formed by autoantigen and autoantibody, play a pathogenic role in systemic autoimmune diseases through stimulation of Fcγ receptors (FcγR). However, studies investigating bioactivity of circulating ICs across various diseases remain limited.
Koji Suzuki +8 more
wiley +1 more source
Epstein syndrome with rapid progression to end stage renal disease
Saudi Journal of Kidney Diseases and Transplantation, 2009 The association of haematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport syndrome with macro ...
Alhindawi Esam, Al-Jbour Samah
doaj
Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia [PDF]
, 1997 From a cohort of 35 patients with hereditary haemorrhagic telangiectasia (HHT), 12 patients have undergone closure of the one or both nasal cavities during the last three years for refractory epistaxis.
Howard, DJ, Lund, VJ
core
The hereditary angioedema burden of illness study in Europe (HAE-BOIS-Europe) : background and methodology [PDF]
, 2012 Background: Hereditary angioedema (HAE) is a rare but serious disease marked by swelling attacks in the extremities, face, trunk, airway, or abdominal areas that can be spontaneous or the result of trauma and other triggers.
Beusterien, Kathleen +17 more
core +2 more sources
Arthritis &Rheumatology, EarlyView.Objective The hematopoietic system maintains homeostasis by balancing myeloid and lymphoid cell production in the bone marrow (BM). In response to increased hematopoietic demand, extramedullary hematopoiesis (EMH) may occur in nonlymphoid organs. We investigated the role of EMH and kidney‐resident hematopoietic stem and progenitor cells (HSPCs) in ...
Hansol Yi +9 more
wiley +1 more source