ALLMedicine™ Aicardi-Goutieres Syndrome Center
Research & Reviews 45 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420445
Orphanet Journal of Rare Diseases; Kameli R, Amanat M et. al.
Jul 27th, 2019 - Restricted factor analysis (RFA) is a powerful method to test for uniform differential item functioning (DIF), but it may require empirically selecting anchor items to prevent inflated Type I error rates. We conducted a simulation study to compare...
https://doi.org/10.1016/j.jaut.2019.03.001
Journal of Autoimmunity; Xiao N, Wei J et. al.
Mar 15th, 2019 - TREX1 encodes a major cellular DNA exonuclease. Mutations of this gene in human cause cellular accumulation of DNA that triggers autoimmune diseases including Aicardi-Goutieres Syndrome (AGS) and systemic lupus erythematosus (SLE). We created a lu...
https://doi.org/10.1016/j.spen.2017.03.022
Seminars in Pediatric Neurology; Dugan SL, Botto LD et. al.
Jul 2nd, 2018 - Intracranial calcifications in young infants, while suggesting intrauterine infections, can also be due to numerous other conditions, including rare genetic disorders. We describe 2 children in whom the presence and pattern of intracranial calcifi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117824
Autoimmunity Mauney CH, Hollis T
Mar 27th, 2018 - Sterile alpha motif and histidine-aspartic acid domain-containing protein 1 (SAMHD1) is a deoxynucleotide triphosphate (dNTP) hydrolase that plays an important role in the homeostatic balance of cellular dNTPs. Its emerging role as an effector of ...
https://doi.org/10.1080/15513815.2017.1388456
Fetal and Pediatric Pathology; Sun Y, Hu X et. al.
Jan 17th, 2018 - RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, includ...
Clinicaltrials.gov 45 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420445
Orphanet Journal of Rare Diseases; Kameli R, Amanat M et. al.
Jul 27th, 2019 - Restricted factor analysis (RFA) is a powerful method to test for uniform differential item functioning (DIF), but it may require empirically selecting anchor items to prevent inflated Type I error rates. We conducted a simulation study to compare...
https://doi.org/10.1016/j.jaut.2019.03.001
Journal of Autoimmunity; Xiao N, Wei J et. al.
Mar 15th, 2019 - TREX1 encodes a major cellular DNA exonuclease. Mutations of this gene in human cause cellular accumulation of DNA that triggers autoimmune diseases including Aicardi-Goutieres Syndrome (AGS) and systemic lupus erythematosus (SLE). We created a lu...
https://doi.org/10.1016/j.spen.2017.03.022
Seminars in Pediatric Neurology; Dugan SL, Botto LD et. al.
Jul 2nd, 2018 - Intracranial calcifications in young infants, while suggesting intrauterine infections, can also be due to numerous other conditions, including rare genetic disorders. We describe 2 children in whom the presence and pattern of intracranial calcifi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117824
Autoimmunity Mauney CH, Hollis T
Mar 27th, 2018 - Sterile alpha motif and histidine-aspartic acid domain-containing protein 1 (SAMHD1) is a deoxynucleotide triphosphate (dNTP) hydrolase that plays an important role in the homeostatic balance of cellular dNTPs. Its emerging role as an effector of ...
https://doi.org/10.1080/15513815.2017.1388456
Fetal and Pediatric Pathology; Sun Y, Hu X et. al.
Jan 17th, 2018 - RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, includ...