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Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and CystsClinical and molecular phenotype of Aicardi-Goutieres syndromeMutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureTartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyChildhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations.Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.Detection of interferon alpha protein reveals differential levels and cellular sources in disease.Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.Osteopontin - a biomarker for organ damage in paediatric lupus?Cerebral screening in patients with hereditary haemorrhagic telangiectasia.The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.Expression of Cyclic GMP-AMP Synthase in Patients With Systemic Lupus Erythematosus.Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.Brief Report: Vitamin D Deficiency Is Associated With Endothelial Dysfunction and Increases Type I Interferon Gene Expression in a Murine Model of Systemic Lupus Erythematosus.Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulationIncomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exonsHypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic diseaseControlled clinical trials in cystic fibrosis--are we doing better?Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 regionThe value of microarray-based comparative genomic hybridisation (aCGH) testing in the paediatric clinicDDX58 and Classic Singleton-Merten SyndromeDisease modeling of core pre-mRNA splicing factor haploinsufficiencySevere type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2RNASEH2B Related Adult-Onset InterferonopathyType I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profiles
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