Dr Gillian Rice

Research Fellow

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Publications

  1. 2011
  2. Published

    COL4A1 mutations associated with a characteristic pattern of intracranial calcification

    Livingston, J., Doherty, D., Orcesi, S., Tonduti, D., Piechiecchio, A., La Piana, R., Tournier-Lasserve, E., Majumdar, A., Tomkins, S., Rice, G., Kneen, R., Van Der Knaap, M. & Crow, Y., 2011, In : Neuropediatrics. 42, 6, p. 227-233 6 p.

    Research output: Contribution to journalArticle

  3. 2010
  4. 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

  5. Published

    Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.

    Ramesh, V., Bernardi, B., Stafa, A., Garone, C., Franzoni, E., Abinun, M., Mitchell, P., Mitra, D., Friswell, M., Nelson, J., Shalev, S. A., Rice, G. I., Gornall, H., Szynkiewicz, M., Aymard, F., Ganesan, V., Prendiville, J., Livingston, J. H. & Crow, Y. J., Aug 2010, In : Developmental medicine and child neurology. 52, 8, p. 725-732 7 p.

    Research output: Contribution to journalArticle

  6. Published

    Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures

    Dale, R. C., Gornall, H., Singh-Grewal, D., Alcausin, M., Rice, G. I. & Crow, Y. J., Apr 2010, In : American Journal of Medical Genetics, Part A. 152, 4, p. 938-942 4 p.

    Research output: Contribution to journalArticle

  7. Published

    Chilblains as a diagnostic sign of aicardi-goutiéres syndrome

    Abdel-Salam, G. M. H., El-Kamah, G. Y., Rice, G. I., El-Darouti, M., Gornall, H., Szynkiewicz, M., Aymard, F., Zaki, M. S., Abdel-Aleem, A. K., Lebon, P. & Crow, Y. J., 2010, In : Neuropediatrics. 41, 1, p. 18-23 5 p.

    Research output: Contribution to journalArticle

  8. 2009
  9. Published

    Aicardi-Goutières syndrome presenting with haematemesis in infancy.

    Hall, D., Rice, G. I., Akbar, N., Meager, A., Crow, Y. J. & Lim, M. J., Dec 2009, In : Acta paediatrica (Oslo, Norway : 1992). 98, 12, p. 2005-2008 3 p.

    Research output: Contribution to journalArticle

  10. 2008
  11. Published

    Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype

    Crow, Y., Briggs, T. A., Wolf, N. I., D'Arrigo, S., Ebinger, F., Harting, I., Dobyns, W. B., Livingston, J. H., Rice, G. I., Crooks, D., Rowland-Hill, C. A., Squier, W., Stoodley, N., Pilz, D. T. & Crow, Y. J., 15 Dec 2008, In : American Journal of Medical Genetics, Part A. 146, 24, p. 3173-3180 7 p.

    Research output: Contribution to journalArticle

  12. Published

    Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.

    Navarro, V., Scott, C., Briggs, T. A., Barete, S., Frances, C., Lebon, P., Maisonobe, T., Rice, G. I., Wouters, C. H. & Crow, Y. J., 1 Nov 2008, In : American Journal of Medical Genetics. Part A. 146A, 21, p. 2810-2815 5 p.

    Research output: Contribution to journalArticle

  13. 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

  14. Published

    Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus.

    Kolivras, A., Aeby, A., Crow, Y. J., Rice, G. I., Sass, U. & André, J., Aug 2008, In : Journal of Cutaneous Pathology. 35, 8, p. 774-778 4 p.

    Research output: Contribution to journalArticle