Dr Gillian Rice

Research Fellow

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Publications

  1. Published

    A child with severe juvenile dermatomyositis treated with ruxolitinib

    Aeschlimann, F. A., Frémond, M., Duffy, D., Rice, G. I., Charuel, J., Bondet, V., Saire, E., Neven, B., Bodemer, C., Balu, L., Gitiaux, C., Crow, Y. J. & Bader-meunier, B., 1 Nov 2018, In : Brain. 141, 11, p. e80

    Research output: Contribution to journalArticle

  2. Published

    A child with severe juvenile dermatomyositis treated with ruxolitinib (vol 141, pg e80, 2018)

    Aeschlimann, F. A., Fremond, M-L., Duffy, D., Rice, G. I., Charuel, J-L., Bondet, V., Saire, E., Neven, B., Bodemer, C., Balu, L., Gitiaux, C., Crow, Y. J. & Bader-Meunier, B., Jan 2019, In : Brain. 142, p. e3-e3

    Research output: Contribution to journalArticle

  3. Published

    A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

    Haaxma, C. A., Crow, Y. J., Van Steensel, M. A. M., Lammens, M. M. Y., Rice, G. I., Verbeek, M. M. & Willemsen, M. A. A. P., Oct 2010, In : American Journal of Medical Genetics, Part A. 152, 10, p. 2612-2617 5 p.

    Research output: Contribution to journalArticle

  4. Published

    A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.

    Cilia La Corte, A. L., Carter, A. M., Rice, G. I., Duan, Q. L., Rouleau, G. A., Adam, A., Grant, P. J. & Hooper, N. M., Nov 2011, In : Human Mutation. 32, 11, p. 1326-1331 5 p.

    Research output: Contribution to journalArticle

  5. Published

    A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

    Chappell, L., Gorman, S., Campbell, F., Ellard, S., Rice, G., Dobbie, A. & Crow, Y., 1 Jul 2008, In : American Journal of Medical Genetics. Part A. 146A, 13, p. 1713-1717 4 p.

    Research output: Contribution to journalArticle

  6. Published

    A New Cause of Mendelian Lupus Due to IKZF1 Mutation Underlines the B Cell Landscape Heterogeneity in Monogenic Lupus

    Belot, A., Frachette, C., Ommar, O. S., Mathieu, A-L., Andrieu, T., Mondier, P., Rice, G., Reumaux, H., Launay, D., Lambert, M., Lefevre, G., Fabien, N., Malcus, C., Rouvet, I., Chopin, E., Michallet, A-S., Defrance, T., Walzer, T. & Crow, Y. J., Oct 2017, In : Arthritis & Rheumatology (Hoboken). 69

    Research output: Contribution to journalMeeting Abstract

  7. Published

    A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

    Rutsch, F., MacDougall, M., Lu, C., Buers, I., Mamaeva, O., Nitschke, Y., Rice, G. I., Erlandsen, H., Kehl, H. G., Thiele, H., Nürnberg, P., Höhne, W., Crow, Y. J., Feigenbaum, A. & Hennekam, R. C., 5 Feb 2015, In : American Journal of Human Genetics. 96, 2

    Research output: Contribution to journalArticle

  8. Published

    A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

    Livingston, J. H., Lin, J-P., Dale, R. C., Gill, D., Brogan, P., Munnich, A., Kurian, M. A., Gonzalez-Martinez, V., De Goede, C. G. E. L., Falconer, A., Forte, G., Jenkinson, E. M., Kasher, P. R., Szynkiewicz, M., Rice, G. I. & Crow, Y. J., Feb 2014, In : Journal of Medical Genetics. 51, 2, p. 76-82 6 p.

    Research output: Contribution to journalArticle

  9. Published

    Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.

    Cuadrado, E., Vanderver, A., Brown, K. J., Sandza, A., Takanohashi, A., Jansen, M. H., Anink, J., Herron, B., Orcesi, S., Olivieri, I., Rice, G. I., Aronica, E., Lebon, P., Crow, Y. J., Hol, E. M. & Kuijpers, T. W., Oct 2015, In : Annals of the rheumatic diseases. 74, 10

    Research output: Contribution to journalArticle

  10. Published

    Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy

    Orcesi, S., Pessagno, A., Biancheri, R., La Piana, R., Mascaretti, M., Rossi, A., Rice, G. I., Crow, Y. J., Fazzi, E. & Veneselli, E., Sep 2008, In : European Journal of Paediatric Neurology. 12, 5, p. 408-411 3 p.

    Research output: Contribution to journalArticle

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