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MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
Buers I, Rice GI, Crow YJ, Rutsch F. Buers I, et al. J Interferon Cytokine Res. 2017 May;37(5):214-219. doi: 10.1089/jir.2017.0004. J Interferon Cytokine Res. 2017. PMID: 28475458 Free PMC article. Review.
More recently, mutations in IFIH1 were reported in a variety of neuroimmunological phenotypes, including Aicardi-Goutieres syndrome, while a specific Arg822Gln mutation in IFIH1 was described in 3 discrete families with Singleton-Merten syndrome (SMS). IFIH1 …
More recently, mutations in IFIH1 were reported in a variety of neuroimmunological phenotypes, including Aicardi-Goutieres syndrome, while a …
Hereditary Disorders of Cardiovascular Calcification.
Rutsch F, Buers I, Nitschke Y. Rutsch F, et al. Arterioscler Thromb Vasc Biol. 2021 Jan;41(1):35-47. doi: 10.1161/ATVBAHA.120.315577. Epub 2020 Nov 12. Arterioscler Thromb Vasc Biol. 2021. PMID: 33176451 Free article. Review.
These disorders can be classified according to the function of the respective disease gene into (1) disorders caused by an altered purine and phosphate/pyrophosphate metabolism, (2) interferonopathies, and (3) Gaucher disease. ...
These disorders can be classified according to the function of the respective disease gene into (1) disorders caused by an altered pu …
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F. Nitschke Y, et al. Curr Osteoporos Rep. 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. Curr Osteoporos Rep. 2017. PMID: 28585220 Review.
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arter …
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased ext …
Type I interferonopathies in pediatric rheumatology.
Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M. Volpi S, et al. Pediatr Rheumatol Online J. 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. Pediatr Rheumatol Online J. 2016. PMID: 27260006 Free PMC article. Review.
Novel interferonopathies associated with mutations in RIG-I like receptors.
Buers I, Nitschke Y, Rutsch F. Buers I, et al. Cytokine Growth Factor Rev. 2016 Jun;29:101-7. doi: 10.1016/j.cytogfr.2016.03.005. Epub 2016 Mar 11. Cytokine Growth Factor Rev. 2016. PMID: 26993858 Review.
Within recent years, with the help of next generation sequencing techniques in syndromic families, mutations in the genes encoding for RIG-I and MDA5 have been identified to cause rare diseases including Aicardi-Goutieres syndrome, Systemic Lupus Erythematosus in certain individu …
Within recent years, with the help of next generation sequencing techniques in syndromic families, mutations in the genes encoding for RIG-I …
Toward a better understanding of type I interferonopathies: a brief summary, update and beyond.
Yu ZX, Song HM. Yu ZX, et al. World J Pediatr. 2020 Feb;16(1):44-51. doi: 10.1007/s12519-019-00273-z. Epub 2019 Aug 3. World J Pediatr. 2020. PMID: 31377974 Review.
RESULTS: Type I interferonopathies include Aicardi-Goutieres syndrome, spondyloenchondro-dysplasia with immune dysregulation, stimulator of interferon genes-associated vasculopathy with onset in infancy, X-linked reticulate pigmentary disorder, ubiquitin-specific peptidase 18 def …
RESULTS: Type I interferonopathies include Aicardi-Goutieres syndrome, spondyloenchondro-dysplasia with immune dysregulation, stimulator of …