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Research Outputs

  1. 2017
  2. Revealing the inner workings of organoids

    Dias, C. & Guillemot, F., 15 May 2017, In : The EMBO journal. 36, p. 1299-1301

    Research output: Contribution to journalReview article

  3. Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation.

    Larder, R., Sim, M. F. M., Gulati, P., Antrobus, R., Tung, Y. C. L., Rimmington, D., Ayuso, E., Polex-Wolf, J., Lam, B. Y. H., Dias, C., Logan, D. W., Virtue, S., Bosch, F., Yeo, G. S. H., Saudek, V., O'Rahilly, S. & Coll, A. P., 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 25, p. 9421 9426 p.

    Research output: Contribution to journalArticle

  4. 2016
  5. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

    Dias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E. V., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Deriziotis, P., Santos, R. F., Lee, S-C., Faivre, L., Kleefstra, T., Liu, P. & 4 others, Hurles, M. E., DDD Study, Fisher, S. E. & Logan, D. W., 4 Aug 2016, In : American Journal of Human Genetics. 99, 2, p. 253-274 22 p.

    Research output: Contribution to journalArticle

  6. 2014
  7. Desmosterolosis: An illustration of diagnostic ambiguity of cholesterol synthesis disorders

    Dias, C., Rupps, R., Millar, B., Choi, K., Marra, M., Demos, M., Kratz, L. E. & Boerkoel, C. F., 25 Jun 2014, In : Orphanet Journal of Rare Diseases. 9, 1, 94.

    Research output: Contribution to journalArticle

  8. 2013
  9. Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

    David, D., Marques, B., Ferreira, C., Araújo, C., Vieira, L., Soares, G., Dias, C. & Pinto, M., 1 Nov 2013, In : Human Genetics. 132, 11, p. 1287-1299 13 p.

    Research output: Contribution to journalArticle

  10. Novel mutations in FA2H-associated neurodegeneration: An underrecognized condition?

    Rupps, R., Hukin, J., Balicki, M., Mercimek-Mahmutoglu, S., Rolfs, A. & Dias, C., 1 Nov 2013, In : Journal of Child Neurology. 28, 11, p. 1500-1504 5 p.

    Research output: Contribution to journalArticle

  11. Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

    Dias, C., McDonald, A., Sincan, M., Rupps, R., Markello, T., Salvarinova, R., Santos, R. F., Menghrajani, K., Ahaghotu, C., Sutherland, D. P., Fortuno, E. S., Kollmann, T. R., Demos, M., Friedman, J. M., Speert, D. P., Gahl, W. A. & Boerkoel, C. F., 1 Nov 2013, In : European Journal of Human Genetics. 21, 11, p. 1232-1239 8 p.

    Research output: Contribution to journalArticle

  12. 2012
  13. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

    Dias, C., Sincan, M., Cherukuri, P. F., Rupps, R., Huang, Y., Briemberg, H., Selby, K., Mullikin, J. C., Markello, T. C., Adams, D. R., Gahl, W. A. & Boerkoel, C. F., 1 Apr 2012, In : Human Mutation. 33, 4, p. 614-626 13 p.

    Research output: Contribution to journalArticle

  14. Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients

    Barbosa, M., Lopes, A., Mota, C., Martins, E., Oliveira, J., Alves, S., de Bonis, P., do Céu Mota, M., Dias, C., Rodrigues-Santos, P., Fortuna, A. M., Quelhas, D., Lacerda, L., Bisceglia, L. & Cardoso, M. L., 1 Jan 2012, In : Clinical Genetics. 81, 1, p. 47-55 9 p.

    Research output: Contribution to journalArticle

  15. 2011
  16. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

    Callewaert, B., Renard, M., Hucthagowder, V., Albrecht, B., Hausser, I., Blair, E., Dias, C., Albino, A., Wachi, H., Sato, F., Mecham, R. P., Loeys, B., Coucke, P. J., De Paepe, A. & Urban, Z., 1 Apr 2011, In : Human Mutation. 32, 4, p. 445-455 11 p.

    Research output: Contribution to journalArticle

  17. 2010
  18. Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome

    Oliveira, J., Dias, C., Redeker, E., Costa, E., Silva, J., Reis Lima, M., Den Dunnen, J. T. & Santos, R., 1 Nov 2010, In : Human Mutation. 31, 11, p. 1216-1222 7 p.

    Research output: Contribution to journalArticle

  19. A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth

    Dias, C., Basto, J., Pinho, O., Barbêdo, C., Mártins, M., Bornholdt, D., Fortuna, A., Grzeschik, K. H. & Lima, M., 1 Aug 2010, In : Fetal and Pediatric Pathology. 29, 5, p. 305-313 9 p.

    Research output: Contribution to journalArticle

  20. Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51

    Santos, R., Oliveira, J., Vieira, E., Coelho, T., Carneiro, A. L., Evangelista, T., Dias, C., Fortuna, A., Geraldo, A., Negro, L., Guimares, A. & Bronze-Da-Rocha, E., 1 Aug 2010, In : Journal of Human Genetics. 55, 8, p. 546-549 4 p.

    Research output: Contribution to journalArticle

  21. 2009
  22. Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type

    Dias, C., Cairns, R. & Patel, M., 1 Jan 2009, In : Clinical Dysmorphology. 18, 1, p. 25-29 5 p.

    Research output: Contribution to journalArticle

  23. 2008
  24. Infantile neuroaxonal dystrophy: What's most important for the diagnosis?

    Carrilho, I., Santos, M., Guimarães, A., Teixeira, J., Chorão, R., Martins, M., Dias, C., Gregory, A., Westaway, S., Nguyen, T., Hayflick, S. & Barbot, C., 1 Nov 2008, In : European Journal of Paediatric Neurology. 12, 6, p. 491-500 10 p.

    Research output: Contribution to journalArticle

  25. Neurodegeneration associated with genetic defects in phospholipase A2

    Gregory, A., Westaway, S. K., Holm, I. E., Kotzbauer, P. T., Hogarth, P., Sonek, S., Coryell, J. C., Nguyen, T. M., Nardocci, N., Zorzi, G., Rodriguez, D., Desguerre, I., Bertini, E., Simonati, A., Levinson, B., Dias, C., Barbot, C., Carrilho, I., Santos, M., Malik, I. & 2 others, Gitschier, J. & Hayflick, S. J., 28 Oct 2008, In : Neurology. 71, 18, p. 1402-1409 8 p.

    Research output: Contribution to journalArticle

  26. 2007
  27. Aplicação dos critérios de diagnóstico de síndrome de Angelman actualizados aos doentes da consulta de neuropediatria

    Dias, C., Santos, M., Ribeiro, A., Carrilho, I., Lima, M. R., Barbot, C. & Chorão, R., 1 May 2007, In : Sinapse. 7, 1, p. 10-17 8 p.

    Research output: Contribution to journalArticle

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