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A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2.
- Published in:
- Journal of Reproduction & Infertility, 2022, n. 2, p. 135, doi. 10.18502/jri.v23i2.8999
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- Publication type:
- Article
Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 5, p. 473, doi. 10.1111/cge.12471
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- Publication type:
- Article
Early-Onset Aicardi-Goutières Syndrome.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 10, p. 1343, doi. 10.1177/0883073814562252
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- Publication type:
- Article
A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation.
- Published in:
- 2015
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- Publication type:
- Case Study
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 1, p. 413, doi. 10.1172/JCI78001
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- Publication type:
- Article
AGS, SLE, and RNASEH2 mutations: translating insights into therapeutic advances.
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- Journal of Clinical Investigation, 2015, v. 125, n. 1, p. 102, doi. 10.1172/jci78533
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- Publication type:
- Article
The eukaryotic elongation factor eEF1A1 interacts with SAMHD1.
- Published in:
- Biochemical Journal, 2015, v. 466, n. 1, p. 69, doi. 10.1042/BJ20140203
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- Publication type:
- Article
Ribonuclease L mediates the cell-lethal phenotype of double-stranded RNA editing enzyme ADAR1 deficiency in a human cell line.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.25687
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- Publication type:
- Article
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.08007
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- Publication type:
- Article
Cochlear impairment and autoimmune ear disorder in a patient with breast cancer.
- Published in:
- Audiology Research, 2017, v. 7, n. 1, p. 23, doi. 10.4081/audiores.2017.165
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- Publication type:
- Article
Type I interferonopathies in pediatric rheumatology.
- Published in:
- Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0094-4
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- Publication type:
- Article
The ribonuclease activity of SAMHD1 is required for HIV-1 restriction.
- Published in:
- Nature Medicine, 2014, v. 20, n. 8, p. 936, doi. 10.1038/nm.3626
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- Publication type:
- Article
Aicardi–Goutières syndrome: Brief case report.
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- Journal of Pediatric Neurosciences, 2018, v. 13, n. 1, p. 88, doi. 10.4103/JPN.JPN_67_17
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- Publication type:
- Article
STING-mediated autoinflammatory disease.
- Published in:
- Nature Genetics, 2014, v. 46, n. 9, p. 933, doi. 10.1038/ng.3082
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- Publication type:
- Article
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation.
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- Asian Journal of Neurosurgery, 2017, v. 12, n. 3, p. 541, doi. 10.4103/1793-5482.145162
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- Publication type:
- Article
RNase H2 Loss in Murine Astrocytes Results in Cellular Defects Reminiscent of Nucleic Acid- Mediated Autoinflammation.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00587
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- Publication type:
- Article
Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.
- Published in:
- American Journal of Case Reports, 2018, v. 19, p. 500, doi. 10.12659/AJCR.908036
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- Publication type:
- Article
Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.
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- Metabolic Brain Disease, 2017, v. 32, n. 3, p. 679, doi. 10.1007/s11011-017-9993-4
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- Publication type:
- Article
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
- Published in:
- 2018
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- Publication type:
- journal article
Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 7, p. 612, doi. 10.1111/dmcn.12359
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- Publication type:
- Article
ADAR RNA editing in human disease; more to it than meets the I.
- Published in:
- Human Genetics, 2017, v. 136, n. 9, p. 1265, doi. 10.1007/s00439-017-1837-0
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- Publication type:
- Article
Sources of Pathogenic Nucleic Acids in Systemic Lupus Erythematosus.
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- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01028
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- Publication type:
- Article
Aicardi-Goutières syndrome and the type I interferonopathies.
- Published in:
- Nature Reviews Immunology, 2015, v. 15, n. 7, p. 429, doi. 10.1038/nri3850
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- Publication type:
- Article
Aicardi‐Goutières syndrome with muscle involvement in early infancy.
- Published in:
- Neuropathology & Applied Neurobiology, 2018, v. 44, n. 7, p. 737, doi. 10.1111/nan.12454
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- Publication type:
- Article
The SAMHD1-mediated block of LINE-1 retroelements is regulated by phosphorylation.
- Published in:
- Mobile DNA, 2018, v. 9, p. 1, doi. 10.1186/s13100-018-0116-5
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- Publication type:
- Article
From The Archives.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 5, doi. 10.1093/brain/aws347
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- Publication type:
- Article
Chronic exposure of astrocytes to interferon-α reveals molecular changes related to Aicardi–Goutières syndrome.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 245, doi. 10.1093/brain/aws321
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- Publication type:
- Article
Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation.
- Published in:
- Turkish Journal of Pediatrics, 2015, v. 57, n. 5, p. 504
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- Publication type:
- Article
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
- Published in:
- JAMA Network Open, 2020, v. 3, n. 1, p. e1920356, doi. 10.1001/jamanetworkopen.2019.20356
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- Publication type:
- Article
Aicardi- Goutières syndrome: a model disease for systemic autoimmunity.
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- Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 17, doi. 10.1111/cei.12160
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- Publication type:
- Article
Therapies in Aicardi- Goutières syndrome.
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- Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 1, doi. 10.1111/cei.12115
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- Publication type:
- Article
Mouse models for Aicardi- Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity.
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- Clinical & Experimental Immunology, 2014, v. 175, n. 1, p. 9, doi. 10.1111/cei.12147
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- Publication type:
- Article
Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy.
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- Lupus, 2013, v. 22, n. 6, p. 639, doi. 10.1177/0961203313486950
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- Publication type:
- Article
Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi–Goutières syndrome.
- Published in:
- 2022
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- Publication type:
- Case Study
Atypical phenotype? The answer's in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency.
- Published in:
- Rheumatology, 2021, v. 60, n. 7, p. e240, doi. 10.1093/rheumatology/keab051
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- Publication type:
- Article
A nationwide survey of Aicardi–Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
- Published in:
- Rheumatology, 2014, v. 53, n. 3, p. 448, doi. 10.1093/rheumatology/ket372
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- Publication type:
- Article
Type I Interferonopathies in Childhood.
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- Balkan Medical Journal, 2023, v. 40, n. 3, p. 165, doi. 10.4274/balkanmedj.galenos.2023.2023-4-78
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- Publication type:
- Article
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome.
- Published in:
- Balkan Medical Journal, 2013, v. 30, n. 3, p. 321, doi. 10.5152/balkanmedj.2013.6960
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- Publication type:
- Article
ID3 may protect mice from anti-GBM glomerulonephritis by regulating the differentiation of Th17 and Treg cells.
- Published in:
- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 9086, doi. 10.3892/mmr.2017.7724
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- Publication type:
- Article
The genetics of juvenile idiopathic arthritis: Searching for new susceptibility loci.
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- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 8793, doi. 10.3892/mmr.2017.7733
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- Publication type:
- Article
Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.
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- Iranian Journal of Child Neurology, 2024, v. 18, n. 3, p. 117, doi. 10.22037/ijcn.v18i3.43274
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- Publication type:
- Article
Leukodystrophies with Intracranial Calcifications.
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 16
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- Publication type:
- Article
Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 7, p. 693, doi. 10.1007/s10875-016-0325-y
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- Publication type:
- Article
Human Disease Phenotypes Associated With Mutations in TREX1.
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- Journal of Clinical Immunology, 2015, v. 35, n. 3, p. 235, doi. 10.1007/s10875-015-0147-3
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- Publication type:
- Article
Microglial Interferon Signaling and White Matter.
- Published in:
- Neurochemical Research, 2017, v. 42, n. 9, p. 2625, doi. 10.1007/s11064-017-2307-8
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- Publication type:
- Article
SAMHD1: mechanisms of regulation and viral evasion.
- Published in:
- Virologie, 2018, v. 22, n. 4, p. E29, doi. 10.1684/vir.2018.0741
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- Publication type:
- Article
RNASEH2B pathogenic mutation presenting with pure, Apparently Non-Progressive hereditary spastic paraparesis.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Different clinical manifestations of three prime repair exonuclease 1 mutation: A case series.
- Published in:
- Annals of Indian Academy of Neurology, 2020, v. 23, n. 5, p. 699, doi. 10.4103/aian.AIAN_469_18
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- Publication type:
- Article
Recurrent Encephalopathy with Spinal Cord Involvement: An Atypical Manifestation of Aicardi-Goutières Syndrome.
- Published in:
- Annals of Indian Academy of Neurology, 2019, v. 22, n. 1, p. 111, doi. 10.4103/aian.AIAN_12_18
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- Publication type:
- Article
Astrocytes, an active player in Aicardi–Goutières syndrome.
- Published in:
- Brain Pathology, 2018, v. 28, n. 3, p. 399, doi. 10.1111/bpa.12600
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- Publication type:
- Article