These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient. Olivieri I; Cattalini M; Tonduti D; La Piana R; Uggetti C; Galli J; Meini A; Tincani A; Moratto D; Fazzi E; Balottin U; Orcesi S Lupus; 2013 Sep; 22(10):1064-9. PubMed ID: 23918923 [TBL] [Abstract][Full Text] [Related]
5. Chronic exposure of astrocytes to interferon-α reveals molecular changes related to Aicardi-Goutieres syndrome. Cuadrado E; Jansen MH; Anink J; De Filippis L; Vescovi AL; Watts C; Aronica E; Hol EM; Kuijpers TW Brain; 2013 Jan; 136(Pt 1):245-58. PubMed ID: 23365100 [TBL] [Abstract][Full Text] [Related]
6. Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations. Ramantani G; Häusler M; Niggemann P; Wessling B; Guttmann H; Mull M; Tenbrock K; Lee-Kirsch MA J Child Neurol; 2011 Nov; 26(11):1425-8. PubMed ID: 21670392 [TBL] [Abstract][Full Text] [Related]
7. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Ramantani G; Kohlhase J; Hertzberg C; Innes AM; Engel K; Hunger S; Borozdin W; Mah JK; Ungerath K; Walkenhorst H; Richardt HH; Buckard J; Bevot A; Siegel C; von Stülpnagel C; Ikonomidou C; Thomas K; Proud V; Niemann F; Wieczorek D; Häusler M; Niggemann P; Baltaci V; Conrad K; Lebon P; Lee-Kirsch MA Arthritis Rheum; 2010 May; 62(5):1469-77. PubMed ID: 20131292 [TBL] [Abstract][Full Text] [Related]
8. Aicardi-Goutieres syndrome: from patients to genes and beyond. Chahwan C; Chahwan R Clin Genet; 2012 May; 81(5):413-20. PubMed ID: 22149989 [TBL] [Abstract][Full Text] [Related]
9. Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome. Cattalini M; Galli J; Andreoli L; Olivieri I; Ariaudo G; Fredi M; ; Orcesi S; Tincani A; Fazzi E J Clin Immunol; 2016 Oct; 36(7):693-9. PubMed ID: 27539236 [TBL] [Abstract][Full Text] [Related]
10. Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome. Izzotti A; Longobardi M; Cartiglia C; Anzuini F; Arrigo P; Fazzi E; Orcesi S; Piana RL; Pulliero A J Child Neurol; 2012 Jan; 27(1):51-60. PubMed ID: 21862834 [TBL] [Abstract][Full Text] [Related]
11. Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation. Uyur Yalçın E; Maraş Genç H; Kara B Turk J Pediatr; 2015; 57(5):504-8. PubMed ID: 27411419 [TBL] [Abstract][Full Text] [Related]
13. Aicardi-Goutières syndrome presenting with haematemesis in infancy. Hall D; Rice GI; Akbar N; Meager A; Crow YJ; Lim MJ Acta Paediatr; 2009 Dec; 98(12):2005-8. PubMed ID: 19775308 [TBL] [Abstract][Full Text] [Related]
14. Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6). La Piana R; Uggetti C; Olivieri I; Tonduti D; Balottin U; Fazzi E; Orcesi S Am J Med Genet A; 2014 Mar; 164A(3):815-9. PubMed ID: 24376015 [TBL] [Abstract][Full Text] [Related]
15. p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome. Hebbar M; Kanthi A; Shrikiran A; Patil S; Muranjan M; Francis F; Bhat B V; Girisha KM; Shukla A Am J Med Genet A; 2018 Jan; 176(1):156-160. PubMed ID: 29150899 [TBL] [Abstract][Full Text] [Related]
17. The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload. Pulliero A; Fazzi E; Cartiglia C; Orcesi S; Balottin U; Uggetti C; La Piana R; Olivieri I; Galli J; Izzotti A Mutat Res; 2011 Dec; 717(1-2):99-108. PubMed ID: 21524657 [TBL] [Abstract][Full Text] [Related]
18. Type I interferon in neurological disease-the devil from within. Hofer MJ; Campbell IL Cytokine Growth Factor Rev; 2013 Jun; 24(3):257-67. PubMed ID: 23548179 [TBL] [Abstract][Full Text] [Related]
19. RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant. Kameli R; Amanat M; Rezaei Z; Hosseionpour S; Nikbakht S; Alizadeh H; Ashrafi MR; Omrani A; Garshasbi M; Tavasoli AR Orphanet J Rare Dis; 2019 Jul; 14(1):184. PubMed ID: 31349848 [TBL] [Abstract][Full Text] [Related]
20. [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. Ji T; Wang J; Li H; Zhao L; Sang Y; Wu Y Zhonghua Er Ke Za Zhi; 2014 Nov; 52(11):822-7. PubMed ID: 25582466 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]