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Research portal

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. 2015
  8. Não tem tradução? Tom e Vinicius em inglês

    Treece, D. H., 2015, Palavra Cantada: : estudos transdisciplinares. Neiva de Matos, C., Teixeira de Medeiros, F. & Davino de Oliveira, L. (eds.). Rio de Janeiro: EDUERJ, p. 113-25 13 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  9. 2014
  10. 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

  11. 2013
  12. 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

  13. 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

  14. 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

  15. Brazilian Jive: From Samba to Bossa and Rap

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

    Research output: Book/ReportBook

  16. 2012
  17. 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

  18. 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

  19. 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

  20. No avarandado do amanhecer: o tempo suspenso em João Gilberto (1973)

    Treece, D., 2012, João Gilberto. Garcia, W. (ed.). São Paulo: Cosac Naify

    Research output: Chapter in Book/Report/Conference proceedingChapter

  21. 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

  22. 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

  23. 2011
  24. 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

  25. 2010
  26. 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

  27. 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

  28. 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

  29. 2009
  30. 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

  31. Traduzir Rosa ao inglês

    Treece, D. H., 2009, Espaços e caminhos de João Guimarães Rosa : dimensões regionais e universalidade : textos escritos para o Simpósio Internacional em Comemoração ao Centenário de João Guimarães Rosa, 1908-2008 . Chiappini Moraes Leite, L. & Vejmelka, M. (eds.). Rio de Janeiro: Nova Fronteira

    Research output: Chapter in Book/Report/Conference proceedingChapter

  32. 2008
  33. 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

  34. 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

  35. Animação suspensa: movimento e tempo na bossa nova

    Treece, D., Jul 2008, In : ArtCultura. 10, 17, p. 121-141 21 p., N/A.

    Research output: Contribution to journalArticle

  36. 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

  37. Os exilados do Império: Gonçalves Dias, Teixeira e Sousa e o indianismo brasileiro

    Treece, D., 2008, La Représentation de l’Indien dans les arts et les littératures d’Amérique Latine . Metz: Centre de Recherches “Écritures”, Université Paul Verlaine-Metz, p. 193-205 13 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  38. 2007
  39. 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

  40. 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

  41. 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

  42. 2005
  43. Linguagem, música e estética negra

    Treece, D., 2005, Cultura Brasileira: o jeito de ser e de viver de um povo. Marcondes e Ferreira de Toledo, M. P. (ed.). Sao Paulo: Nankin, p. 144 - 159 16 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  44. 2004
  45. 2003
  46. 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

  47. 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

  48. 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

  49. Linguagem, música e estética negra

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

    Research output: Contribution to journalArticle

  50. 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

  51. 2002
  52. 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

  53. 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

  54. 2001
  55. Babel Guide to Brazilian Fiction in English Translation

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

    Research output: Book/ReportBook

  56. 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

  57. Obituary: Jorge Amado

    Treece, D., 2001

    Research output: Other contribution

  58. The Jaguar and Other Stories

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

    Research output: Book/ReportBook

  59. 2000
  60. 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

  61. 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

  62. Tropicalia: Popular song and mass culture (Brazil)

    Treece, D., 2000, In : STUDIES IN LATIN AMERICAN POPULAR CULTURE. 19, p. 51 - 55 5 p.

    Research output: Contribution to journalArticle

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