Ara
Toplam kayıt 117, listelenen: 11-20
Early- Onset Stroke and Vasculopathy Associated With Mutations in Ada2
(Massachusetts Medical Soc, 2014)
BackgroundWe observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We ...
Fmf: An Update
(2014)
Guidelines For The Genetic Diagnosis Of Hereditary Recurrent Fevers
(2012)
Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the ...
Hla-Drb1*11 And Variants Of The Mhc Class Ii Locus Are Strong Risk Factors For Systemic Juvenile Idiopathic Arthritis
(Natl Acad Sciences, 2015)
Systemic juvenile idiopathic arthritis (sJIA) is an often severe, potentially life-threatening childhood inflammatory disease, the pathophysiology of which is poorly understood. To determine whether genetic variation within ...