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. 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]
5. Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2? Svingen L; Goheen M; Godfrey R; Wahl C; Baker EH; Gahl WA; Malicdan MCV; Toro C Dev Med Child Neurol; 2017 Dec; 59(12):1307-1311. PubMed ID: 28762473 [TBL] [Abstract][Full Text] [Related]
6. Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy. Orcesi S; Pessagno A; Biancheri R; La Piana R; Mascaretti M; Rossi A; Rice GI; Crow YJ; Fazzi E; Veneselli E Eur J Paediatr Neurol; 2008 Sep; 12(5):408-11. PubMed ID: 18069026 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? Fazzi E; Cattalini M; Orcesi S; Tincani A; Andreoli L; Balottin U; De Simone M; Fredi M; Facchetti F; Galli J; Giliani S; Izzotti A; Meini A; Olivieri I; Plebani A Autoimmun Rev; 2013 Feb; 12(4):506-9. PubMed ID: 22940555 [TBL] [Abstract][Full Text] [Related]
9. Prenatal diagnosis of Aicardi-Goutières syndrome. Le Garrec M; Doret M; Pasquier JC; Till M; Lebon P; Buenerd A; Escalon J; Gaucherand P Prenat Diagn; 2005 Jan; 25(1):28-30. PubMed ID: 15662687 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Aicardi-Goutières syndrome with systemic lupus erythematosus and hypothyroidism. Kamei A; Akasaka M; Soga N; Suzuki Y; Uchide M; Chida S Brain Dev; 2013 Jan; 35(1):87-90. PubMed ID: 22521435 [TBL] [Abstract][Full Text] [Related]
12. Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients. Al Mutairi F; Alfadhel M; Nashabat M; El-Hattab AW; Ben-Omran T; Hertecant J; Eyaid W; Ali R; Alasmari A; Kara M; Al-Twaijri W; Filimban R; Alshenqiti A; Al-Owain M; Faqeih E; Alkuraya FS Pediatr Neurol; 2018 Jan; 78():35-40. PubMed ID: 29239743 [TBL] [Abstract][Full Text] [Related]
13. 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]
15. 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]
16. The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). Tolmie JL; Shillito P; Hughes-Benzie R; Stephenson JB J Med Genet; 1995 Nov; 32(11):881-4. PubMed ID: 8592332 [TBL] [Abstract][Full Text] [Related]
18. A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation. Straussberg R; Marom D; Sanado-Inbar E; Lakovsky Y; Horev G; Shalev SA; Lev D; Lerman-Sagie T; Leshinsky-Silver E J Child Neurol; 2015 Mar; 30(4):490-5. PubMed ID: 25246298 [TBL] [Abstract][Full Text] [Related]
19. 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]