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Research Outputs

  1. 2017
  2. Dias, Cristina ; Guillemot, François. / Revealing the inner workings of organoids. In: The EMBO journal. 2017 ; Vol. 36. pp. 1299-1301.
  3. Imperatore, Nicola ; Tortora, Raffaella ; De Palma, Giovanni Domenico ; Capone, Pietro ; Gerbino, Nicolò ; Donetto, Sara ; Testa, Anna ; Caporaso, Nicola ; Rispo, Antonio. / Benefiacial Effects Of Gluten Free Diet In Potential Celiac Disease Of The Adult. In: DIGESTIVE AND LIVER DISEASE. 2017.
  4. Larder, Rachel ; Sim, M. F. Michelle ; Gulati, Pawan ; Antrobus, Robin ; Tung, Y. C. Loraine ; Rimmington, Debra ; Ayuso, Eduard ; Polex-Wolf, Joseph ; Lam, Brian Y. H. ; Dias, Cristina ; Logan, Darren W. ; Virtue, Sam ; Bosch, Fatima ; Yeo, Giles S. H. ; Saudek, Vladimir ; O'Rahilly, Stephen ; Coll, Anthony P. / Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation. In: Proceedings of the National Academy of Sciences of the United States of America. 2017 ; Vol. 114, No. 25. pp. 9421.
  5. 2016
  6. Dias, Cristina ; Estruch, Sara B ; Graham, Sarah A ; McRae, Jeremy ; Sawiak, Stephen J ; Hurst, Jane A ; Joss, Shelagh K ; Holder, Susan E ; Morton, Jenny E V ; Turner, Claire ; Thevenon, Julien ; Mellul, Kelly ; Sánchez-Andrade, Gabriela ; Ibarra-Soria, Ximena ; Deriziotis, Pelagia ; Santos, Rui F ; Lee, Song-Choon ; Faivre, Laurence ; Kleefstra, Tjitske ; Liu, Pentao ; Hurles, Mathew E ; DDD Study ; Fisher, Simon E ; Logan, Darren W. / BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. In: American Journal of Human Genetics. 2016 ; Vol. 99, No. 2. pp. 253-274.
  7. Imperatore, N. ; Rispo, A. ; Capone, P. ; Donetto, S. ; De Palma, G.D. ; Gerbino, N. ; Rea, M. ; Caporaso, N. ; Tortora, R. / GLUTEN-FREE DIET DOES NOT INFLUENCE THE OCCURRENCE AND THE TH1/TH17-TH2 NATURE OF IMMUNE-MEDIATED DISEASES IN PATIENTS WITH COELIAC DISEASE. In: DIGESTIVE AND LIVER DISEASE. 2016.
  8. 2015
  9. 2014
  10. Dias, Cristina ; Rupps, Rosemarie ; Millar, Benjamin ; Choi, Kunho ; Marra, Marco ; Demos, Michelle ; Kratz, Lisa E. ; Boerkoel, Cornelius F. / Desmosterolosis : An illustration of diagnostic ambiguity of cholesterol synthesis disorders. In: Orphanet Journal of Rare Diseases. 2014 ; Vol. 9, No. 1.
  11. 2013
  12. David, Dezso ; Marques, Bárbara ; Ferreira, Cristina ; Araújo, Carlos ; Vieira, Luís ; Soares, Gabriela ; Dias, Cristina ; Pinto, Maximina. / Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression. In: Human Genetics. 2013 ; Vol. 132, No. 11. pp. 1287-1299.
  13. Rupps, Rosemarie ; Hukin, Juliette ; Balicki, Martha ; Mercimek-Mahmutoglu, Saadet ; Rolfs, Arndt ; Dias, Cristina. / Novel mutations in FA2H-associated neurodegeneration : An underrecognized condition?. In: Journal of Child Neurology. 2013 ; Vol. 28, No. 11. pp. 1500-1504.
  14. Dias, Cristina ; McDonald, Allison ; Sincan, Murat ; Rupps, Rosemarie ; Markello, Thomas ; Salvarinova, Ramona ; Santos, Rui F. ; Menghrajani, Kamal ; Ahaghotu, Chidi ; Sutherland, Darren P. ; Fortuno, Edgardo S. ; Kollmann, Tobias R. ; Demos, Michelle ; Friedman, Jan M. ; Speert, David P. ; Gahl, William A. ; Boerkoel, Cornelius F. / Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. In: European Journal of Human Genetics. 2013 ; Vol. 21, No. 11. pp. 1232-1239.
  15. 2012
  16. Donetto, Sara. / Talking about power in medical education. In: Medical Education. 2012 ; Vol. 46, No. 12. pp. 1141-1143.
  17. Dias, Cristina ; Sincan, Murat ; Cherukuri, Praveen F. ; Rupps, Rosemarie ; Huang, Yan ; Briemberg, Hannah ; Selby, Kathryn ; Mullikin, James C. ; Markello, Thomas C. ; Adams, David R. ; Gahl, William A. ; Boerkoel, Cornelius F. / An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. In: Human Mutation. 2012 ; Vol. 33, No. 4. pp. 614-626.
  18. Barbosa, Mafalda ; Lopes, A. ; Mota, C ; Martins, Esmeralda ; Oliveira, J. ; Alves, S. ; de Bonis, P. ; do Céu Mota, M. ; Dias, Cristina ; Rodrigues-Santos, P. ; Fortuna, A. M. ; Quelhas, D. ; Lacerda, L. ; Bisceglia, L. ; Cardoso, M. L. / Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients. In: Clinical Genetics. 2012 ; Vol. 81, No. 1. pp. 47-55.
  19. 2011
  20. Callewaert, Bert ; Renard, Marjolijn ; Hucthagowder, Vishwanathan ; Albrecht, Beate ; Hausser, Ingrid ; Blair, Edward ; Dias, Cristina ; Albino, Alice ; Wachi, Hiroshi ; Sato, Fumiaki ; Mecham, Robert P. ; Loeys, Bart ; Coucke, Paul J. ; De Paepe, Anne ; Urban, Zsolt. / New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. In: Human Mutation. 2011 ; Vol. 32, No. 4. pp. 445-455.
  21. 2010
  22. Oliveira, Jorge ; Dias, Cristina ; Redeker, Egbert ; Costa, Eurico ; Silva, João ; Reis Lima, Margarida ; Den Dunnen, Johan T. ; Santos, Rosário. / Development of NIPBL Locus-Specific Database Using LOVD : From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome. In: Human Mutation. 2010 ; Vol. 31, No. 11. pp. 1216-1222.
  23. Dias, Cristina ; Basto, Jorge ; Pinho, Odilia ; Barbêdo, Carla ; Mártins, Marcia ; Bornholdt, Dorothea ; Fortuna, Ana ; Grzeschik, Karl Heinz ; Lima, Margarida. / A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth. In: Fetal and Pediatric Pathology. 2010 ; Vol. 29, No. 5. pp. 305-313.
  24. Santos, Rosário ; Oliveira, Jorge ; Vieira, Emília ; Coelho, Teresa ; Carneiro, António Leite ; Evangelista, Teresinha ; Dias, Cristina ; Fortuna, Ana ; Geraldo, Argemiro ; Negro, Luís ; Guimares, António ; Bronze-Da-Rocha, Elsa. / Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51. In: Journal of Human Genetics. 2010 ; Vol. 55, No. 8. pp. 546-549.
  25. 2009
  26. 2008
  27. Carrilho, Inês ; Santos, Manuela ; Guimarães, António ; Teixeira, João ; Chorão, Rui ; Martins, Márcia ; Dias, Cristina ; Gregory, Allison ; Westaway, Shawn ; Nguyen, Thuy ; Hayflick, Susan ; Barbot, Clara. / Infantile neuroaxonal dystrophy : What's most important for the diagnosis?. In: European Journal of Paediatric Neurology. 2008 ; Vol. 12, No. 6. pp. 491-500.
  28. 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, Isabelle ; Bertini, Enrico ; Simonati, A. ; Levinson, B. ; Dias, Cristina ; Barbot, Clara ; Carrilho, Inês ; Santos, Manuela ; Malik, I. ; Gitschier, J. ; Hayflick, Susan J. / Neurodegeneration associated with genetic defects in phospholipase A2. In: Neurology. 2008 ; Vol. 71, No. 18. pp. 1402-1409.
  29. 2007
  30. Dias, Cristina ; Santos, Manuela ; Ribeiro, Adriana ; Carrilho, Inês ; Lima, Margarida Reis ; Barbot, Clara ; Chorão, Rui. / Aplicação dos critérios de diagnóstico de síndrome de Angelman actualizados aos doentes da consulta de neuropediatria. In: Sinapse. 2007 ; Vol. 7, No. 1. pp. 10-17.

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