Results 81 to 90 of about 6,862 (214)
Prenatal Diagnosis, Volume 45, Issue 9, Page 1151-1159, August 2025.ABSTRACT Objective Expanded carrier screening (ECS) is used to assess the reproductive probability of having an offspring affected by an autosomal recessive or X‐linked recessive genetic disorder. Rarely, a presumably healthy individual may be identified to carry variants that could influence their health.
Yan Lü +9 more
wiley +1 more source
PFAPA syndrome: a review on treatment and outcome. [PDF]
, 2016 The syndrome of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA syndrome) is the most common cause of periodic fever in childhood. The current pharmacological treatment includes corticosteroids, which usually are efficacious
Hofer, M. +2 more
core +2 more sources
Arthritis &Rheumatology, Volume 77, Issue 7, Page 817-826, July 2025.Objective The sparse effector “omnigenic” hypothesis postulates that the polygenic effects of common single nucleotide polymorphisms (SNPs) on a typical complex trait are mediated by trans effects that coalesce on expression of a relatively sparse set of core genes.
Athina Spiliopoulou +9 more
wiley +1 more source
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients
Annals of Saudi Medicine, 2012 BACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi Jews, and Arabs.
Munis Dundar +7 more
doaj +1 more source
Patients With IgA Vasculitis and Kawasaki Disease Show Dysregulated Interferon Signature
International Journal of Rheumatic Diseases, Volume 28, Issue 7, July 2025.ABSTRACT Objective IgA vasculitis (IgAV) and Kawasaki disease (KD) are the most common forms of childhood vasculitis. Although various factors such as viral infections, genetic factors, and environmental factors are involved in the development of both diseases, their pathogenesis remains unclear.
Sevki Erdem Varol +9 more
wiley +1 more source
MEFV gene mutation analysis in patient with PFAPA [PDF]
Introduction : syndrome PFAPA (periodic fever, aphthous mouth, pharyngitis and adenitis) is a clinical syndrome that usually occur in children younger than 5 years.
حسینی اصل, سید سعید +2 more
core +1 more source
Novel NLRP3/cryopyrin mutations and pro-inflammatory cytokine profiles in Behçet's syndrome patients [PDF]
, 2017 The role of mutations in NLRP3 in inflammatory features of Behçet's ...
Akdiş, Cezmi +8 more
core
Autoinflammatory diseases: a possible cause of thrombosis? [PDF]
, 2015 Autoinflammatory diseases are a group of disorders due to acquired or hereditary disfunction of innate immune system and characterized by systemic or localized manifestations. The prototype is Familial Mediterranean Fever, a monogenic hereditary disorder,
Francesco Orlandini +2 more
core +2 more sources
Arthritis &Rheumatology, Volume 77, Issue 5, Page 582-595, May 2025.Objective Adult‐onset Still disease (AOSD) is a systemic autoinflammatory disorder (AID) of unknown etiology. Genetic studies have been limited. Here, we conducted detailed genetic and inflammatory biomarker analysis of a large cohort with AOSD to investigate the underlying pathology and identify novel targets for potential treatment.
Joanne Topping +20 more
wiley +1 more source
Familial Mediterranean fever in northwest of Iran (Ardabil): The first global report from Iran [PDF]
Familial Mediterranean fever (FMF), which is the prototype of the hereditary periodic fever syndromes, is common in the countries around the Mediterranean Sea. Considering its geographical position in the northwest of Iran, with its population of Turkish
امامی, دینا +10 more
core