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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. Apresentação

    Treece, D. H., 2017, Transnacionalidades: arte e cultura no Brasil contemporâneo. Valim de Melo, C. (ed.). Porto Alegre: Metamorfose, p. 7-12 6 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  4. 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

  5. 2016
  6. 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

  7. 2014
  8. 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

  9. 2013
  10. 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

  11. 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

  12. 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

  13. Brazilian Jive: From Samba to Bossa and Rap

    Treece, D., 2013, London: Reaktion. 224 p. (Reverb)

    Research output: Book/ReportBook

  14. 2012
  15. 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

  16. 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

  17. Studies in the Literary Achievement of João Guimarães Rosa, the Foremost Brazilian Writer of the Twentieth Century

    Chiappini, L. (ed.), Treece, D. (ed.) & Vejmelka, M. (ed.), 2012, Lewiston: Edwin Mellen Press. 454 p.

    Research output: Book/ReportBook

  18. Orpheus in Babylon: music, myth and realism in the cinema of Rio de Janeiro

    Treece, D., 2012, Screening Songs in Hispanic and Lusophone Cinema . Shaw, L., R. S. & Biddle, I. (eds.). Manchester: Manchester University Press, Manchester, p. 298-314 17 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  19. Translating Guimarães Rosa into English

    Treece, D. H., 2012, Studies in the Literary Achievement of João Guimarães Rosa, the Foremost Brazilian Writer of the Twentieth Century. Chiappini, L., Vejmelka, M. & Treece, D. (eds.). New York: Edwin Mellen Press, p. 31-48 18 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  20. 2011
  21. 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

  22. 2010
  23. 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

  24. 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

  25. 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

  26. 2009
  27. 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

  28. 2008
  29. 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

  30. 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

  31. Conversa de malandro or Brazilian Jive Talk: Music, Language, Community

    Treece, D. H., 2008, 24 p. London : Institute for the Study of the Americas.

    Research output: Other contribution

  32. 2007
  33. 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

  34. Cultures of the Lusophone Black Atlantic

    Naro, N. P. (ed.), Sansi-Roca, D. (ed.) & Treece, D. (ed.), 2007, Basingstoke: Palgrave Macmillan.

    Research output: Book/ReportBook

  35. Suspended animation: movement and time in bossa nova

    Treece, D., 2007, In : Journal of Romance Studies. 7, 2, p. 75 - 97 23 p.

    Research output: Contribution to journalArticle

  36. 2003
  37. Rhythms of resistance: African musical heritage in Brazil

    Treece, D., Feb 2003, In : Journal of Latin American Studies. 35, 1, p. 207 - 213 7 p.

    Research output: Contribution to journalBook/Film/Article review

  38. Brazilian musics, Brazilian identities

    Treece, D., 2003, In : Journal of Latin American Studies. 35, p. 207 - 213 7 p.

    Research output: Contribution to journalBook/Film/Article review

  39. Brazilian popular music and globalization

    Treece, D., 2003, In : Journal of Latin American Studies. 35, p. 207 - 213 7 p.

    Research output: Contribution to journalBook/Film/Article review

  40. Linguagem, música e estética negra

    Treece, D., 2003, In : Ethnos Brasil. 2, p. 51 - 66 16 p.

    Research output: Contribution to journalArticle

  41. O indianismo romântico, a questão indígena e a escravidão negra

    Treece, D., 2003, In : Novos Estudos CEBRAP. 65, p. 141 - 151 11 p.

    Research output: Contribution to journalArticle

  42. 2002
  43. La música popular de Brasil: la experiencia negra y la samba

    Treece, D., 2002, In : Guaraguao, Revista de Cultura Latinoamericana. 6, 15, p. 52 - 67 16 p.

    Research output: Contribution to journalArticle

  44. Mapping MPB in the 1990s: music and politics in Brazil at the end of teh twentieth century

    Treece, D., 2002, I Sing the Difference: identity and Commitment in Latin American Song: a symposium in honour of Robert Pring-Mill. Fairley, J. & Horn, D. (eds.). Liverpool: Institute of Popular Music, University of Liverpool Press, p. 99 - 105 7 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  45. 2001
  46. Babel Guide to Brazilian Fiction in English Translation

    Treece, D. (ed.) & Keenoy, R. (ed.), 2001, London: Boulevard. 172 p.

    Research output: Book/ReportBook

  47. Freedoms given, freedoms won: Afro-Brazilians in post-abolition Sao Paulo and Salvador

    Treece, D., 2001, In : Journal of Latin American Studies. 33, p. 634 - 636 3 p.

    Research output: Contribution to journalBook/Film/Article review

  48. Obituary: Jorge Amado

    Treece, D., 2001

    Research output: Other contribution

  49. The Jaguar and Other Stories

    Treece, D. (Translator), 2001, Oxford: Boulevard, Oxford. 183 p.

    Research output: Book/ReportBook

  50. 2000
  51. A flor e o canhão: A Bossa Nova e a Música de protesto no Brasil (1958/1968)

    Treece, D., 2000, In : História: Questões e Dabates. 17, 32, p. 121 - 165 45 p.

    Research output: Contribution to journalArticle

  52. Rhythm And Poetry: Politics, Aesthetics and Popular Music in Brazil since 1960

    Treece, D. H., 2000, Cultural Politics in Latin America . Brooksbank Jones, A. & Munck, R. (eds.). London: Macmillan, p. 29-42 14 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  53. 1999
  54. Orpheus and power: The Movimento-Negro of Rio de Janeiro and Sao Paulo, Brazil, 1945-1988

    Treece, D., 1999, In : PORTUGUESE STUDIES. 15, p. 216 - 223 8 p.

    Research output: Contribution to journalBook/Film/Article review

  55. The mystery of samba: Popular music and national identity in Brazil

    Treece, D., 1999, In : PORTUGUESE STUDIES. 15, p. 216 - 223 8 p.

    Research output: Contribution to journalBook/Film/Article review

  56. The social history of the Brazilian samba

    Treece, D., 1999, In : PORTUGUESE STUDIES. 15, p. 216 - 223 8 p.

    Research output: Contribution to journalBook/Film/Article review

  57. 1998
  58. It could all be different”: an Introduction to the Fiction of João Gilberto Noll

    Treece, D. H., 1998, In : PORTUGUESE STUDIES. 14, p. 267-76 10 p.

    Research output: Contribution to journalArticle

  59. 1997
  60. Ana Cristina César, Intimate Diary

    Treece, D. H. (Translator), Treece, D. H. (ed.), Paige, P. E. (Translator) & McCullough, C. (Translator), 1997, London: Boulevard. 114 p.

    Research output: Book/ReportBook

  61. Guns and Roses: Bossa Nova and Brazil’s music of popular protest, 1958-68

    Treece, D. H., 1997, In : Popular Music. 16, 1, p. 1-29 30 p.

    Research output: Contribution to journalArticle

  62. João Gilberto Noll, Hotel Atlantico

    Treece, D. H. (Translator), 1997, London: Boulevard. 151 p.

    Research output: Book/ReportBook

  63. 1996
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