Browsing by Author Rice, Gillian I.

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Issue DateTitleAuthor(s)Citation
2013Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control studyDale, Russell; Abdel-Hamid, Mohamed S; Ackroyd, Sam; Aeby, Alec; Allcock, Rebecca; Bailey, Kathryn M; Balottin, Umberto; Chase, Diana S; et al, Various; Forte, Gabriella M A; Rice, Gillian I.; Szynkiewicz, Marcin; Children's Hospital Westmead: Paediatrics & Child HealthAssessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study, Lancet Neurology, vol.12, 12, 2013,pp 1159-1169
2010Familial Aicardi–Goutières Syndrome Due to SAMHD1 Mutations Is Associated With Chronic Arthropathy and ContracturesDale, Russell; Liberty B. Alcausin, Maria Melanie; Singh-Grewal, Davinder; Crow, Yanick J.; Gornall, Hannah; Rice, Gillian I.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthFamilial Aicardi–Goutières Syndrome Due to SAMHD1 Mutations Is Associated With Chronic Arthropathy and Contractures, American Journal of Medical Genetics. Part A, vol.152A, 4,pp 938-942
2014Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingDale, Russell; Menezes, Manoj; Anderson, Beverley; Ariaudo, Giada; Bader-Meunier, Brigitte; Baildam, Eileen; Battini, Roberta; Beresford, Michael W; del Toro Duany, Yoandris; et al, Various; Forte, Gabriella M A; Jenkinson, Emma; Rice, Gillian I.; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation SciencesGain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling, Nature Genetics, vol.46, 5, 2014,pp 503-509
2017Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseDale, Russell; Barth, M; Briggs, Tracy A.; Burton, A; Carpanelli, Maria Luisa; Cerisola, Alfredo M.; Colson, Cindy; Danti, Federica Rachele; et al, Various; Kitabayashi, N; Rice, Gillian I.; Childrens Hospital Westmead: Paediatrics & Child HealthGenetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease, Neuropediatrics, vol.48, 3, 2017,pp 166-184
2018An open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammationBandodkar, Sushil; Barclay, Peter; Dale, Russell; Kothur, Kavitha; Brogan, Paul; Chu, Stephanie; Crow, Yanick J.; Johnson, Alexandra; Rice, Gillian I.; Wienholt, Louise; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthAn open-label trial of JAK 1/2 blockade in progressive IFIH1-associated neuroinflammation, Neurology, vol.90, 6, 2018,pp 289-291
2016Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyAdes, Lesley; Adib, Navid; Barete, Stephane; Baskar, Kannan; Baudouin, Verinique; Briggs, Tracy A.; Cebeci, Ayse Nurcan; Clapuyt, Philippe; Coman, David; et al, Various; Rice, Gillian I.; Childrens Hospital Westmead: Paediatrics & Child HealthSpondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey, Journal of Clinical Immunology, vol.36, 3, 2016,pp 220-234
2016Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyAdes, Lesley; Adib, Navid; Barete, Stephane; Baskar, Kannan; Baudouin, Verinique; Briggs, Tracy A.; Cebeci, Ayse Nurcan; Clapuyt, Philippe; Coman, David; et al, Various; Rice, Gillian I.; Childrens Hospital Westmead: Paediatrics & Child HealthSpondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey, Journal of Clinical Immunology, vol.36, 3, 2016,pp 220-234