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Results 1 - 7 of 9 for "Aicardi-Goutieres" syndrome 8
  1. Aicardi-Goutières syndrome 
    ... SYNDROME 5; AGS5 AICARDI-GOUTIERES SYNDROME 6; AGS6 AICARDI-GOUTIERES SYNDROME 8; AGS8 AICARDI-GOUTIERES SYNDROME 9; AGS9 PubMed Crow YJ, Chase DS, Lowenstein ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. TREX1 gene 
    ... AL, Kuijpers TW, Hol EM. Phenotypic variation in Aicardi-Goutieres syndrome explained by cell-specific IFN-stimulated gene response and cytokine release. J Immunol. 2015 Apr 15;194(8):3623-33. doi: 10.4049/jimmunol.1401334. Epub ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  3. RNASEH2A gene 
    ... AL, Kuijpers TW, Hol EM. Phenotypic variation in Aicardi-Goutieres syndrome explained by cell-specific IFN-stimulated gene response and cytokine release. J Immunol. 2015 Apr 15;194(8):3623-33. doi: 10.4049/jimmunol.1401334. Epub ...
    https://medlineplus.gov/genetics/gene/rnaseh2a - Genetics
  4. ADAR gene 
    ... Lovell SC, Crow YJ. Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep ...
    https://medlineplus.gov/genetics/gene/adar - Genetics
  5. SAMHD1 gene 
    ... Crow YJ. Assessment of interferon-related biomarkers in Aicardi-Goutieres ... 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  6. IFIH1 gene 
    ... 11):96. doi: 10.1007/s11892-015-0656-8. Citation on PubMed Oda H, Nakagawa K, Abe J, Awaya T, Funabiki M, Hijikata A, Nishikomori R, Funatsuka M, Ohshima Y, Sugawara Y, Yasumi T, Kato H, Shirai T, Ohara O, Fujita T, Heike T. Aicardi-Goutieres syndrome is caused by IFIH1 mutations. Am J Hum ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  7. RNAse T2-deficient leukoencephalopathy 
    ... lobe cysts. Neuropediatrics. 1998 Oct;29(5):225-8. doi: 10.1055/s-2007-973566. ... and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4): ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics