• 218 Citations
  • 3 h-Index
19972014
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Fingerprint Dive into the research topics where Luís Manuel de Almeida Nunes is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 9 Similar Profiles
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Smith-Lemli-Opitz Syndrome Medicine & Life Sciences
De Lange Syndrome Medicine & Life Sciences
Microphthalmia-Associated Transcription Factor Medicine & Life Sciences
Leber Congenital Amaurosis Medicine & Life Sciences
Waardenburg Syndrome Medicine & Life Sciences
Hypertelorism Medicine & Life Sciences

Research Output at NOVA 1997 2014

  • 218 Citations
  • 3 h-Index
  • 5 Article
  • 1 Conference contribution
65 Citations (Scopus)

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Kaiser, F. J., Ansari, M., Braunholz, D., Gil-Rodríguez, M. C., Decroos, C., Wilde, J. J., Fincher, C. T., Kaur, M., Bando, M., Amor, D. J., Atwal, P. S., Bahlo, M., Bowman, C. M., Bradley, J. J., Brunner, H. G., Clark, D., Campo, M. D., Di Donato, N., Diakumis, P., Dubbs, H. & 64 othersDyment, D. A., Eckhold, J., Ernst, S., Ferreira, J. C., Francey, L. J., Gehlken, U., Guillén-Navarro, E., Gyftodimou, Y., Hall, B. D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J. M., Yntema, H., Innes, A. M., Kline, A. D., Krumina, Z., Lee, H., Leppig, K., Lynch, S. A., Mallozzi, M. B., Mannini, L., Mckee, S., Mehta, S. G., Micule, I., Consortium, C. R. C., Mohammed, S., Moran, E., Mortier, G. R., Moser, J. A. S., Noon, S. E., Nozaki, N., Nunes, L., Pappas, J. G., Penney, L. S., Pérez-Aytés, A., Petersen, M. B., Puisac, B., Revencu, N., Roeder, E., Saitta, S., Scheuerle, A. E., Schindeler, K. L., Siu, V. M., Stark, Z., Strom, S. P., Thiese, H., Vater, I., Willems, P., Williamson, K., Wilson, L. C., Hakonarson, H., Quintero-Rivera, F., Wierzba, J., Musio, A., Gillessen-Kaesbach, G., Ramos, F. J., Jackson, L. G., Shirahige, K., Pié, J., Christianson, D. W., Krantz, I. D., Fitzpatrick, D. R. & Deardorff, M. A., 1 Jan 2014, In : Human molecular genetics. 23, 11, p. 2888-2900 13 p., ddu002.

Research output: Contribution to journalArticle

De Lange Syndrome
Hypertelorism
X-Linked Genes
Mutation
Missense Mutation
131 Citations (Scopus)

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Anderson, B. H., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., Urquhart, J. E., Daly, S. B., Dickerson, J. E., O'Sullivan, J., Leibundgut, E. O., Muter, J., Abdel-Salem, G. M. H., Babul-Hirji, R., Baxter, P., Berger, A., Bonafé, L., Brunstom-Hernandez, J. E., Buckard, J. A., Chitayat, D. & 44 othersChong, W. K., Cordelli, D. M., Ferreira, P., Fluss, J., Forrest, E. H., Franzoni, E., Garone, C., Hammans, S. R., Houge, G., Hughes, I., Jacquemont, S., Jeannet, P. Y., Jefferson, R. J., Kumar, R., Kutschke, G., Lundberg, S., Loureno, C. M., Mehta, R., Naidu, S., Nischal, K. K., Nunes, L., Ounap, K., Philippart, M., Prabhakar, P., Risen, S. R., Schiffmann, R., Soh, C., Stephenson, J. B. P., Stewart, H., Stone, J., Tolmie, J. L., Van Der Knaap, M. S., Vieira, J. P., Vilain, C. N., Wakeling, E. L., Wermenbol, V., Whitney, A., Lovell, S. C., Meyer, S., Livingston, J. H., Baerlocher, G. M., Black, G. C. M., Rice, G. I. & Yanick, J., 1 Mar 2012, In : Nature Genetics. 44, 3, p. 338-342 5 p.

Research output: Contribution to journalArticle

Telomere Shortening
Telomere
Dyskeratosis Congenita
Maintenance
Mutation
19 Citations (Scopus)

Novel and recurrent non-truncating mutations of the MITF basic domain: Genotypic and phenotypic variations in Waardenburg and Tietz syndromes

Léger, S., Balguerie, X., Goldenberg, A., Drouin-Garraud, V., Cabot, A., Amstutz-Montadert, I., Young, P., Joly, P., Bodereau, V., Holder-Espinasse, M., Jamieson, R. V., Krause, A., Chen, H., Baumann, C., Nunes, L., Dollfus, H., Goossens, M. & Pingault, V., 1 May 2012, In : European Journal Of Human Genetics. 20, 5, p. 584-587 4 p.

Research output: Contribution to journalArticle

Microphthalmia-Associated Transcription Factor
Waardenburg Syndrome
Hypopigmentation
Mutation
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors

Cancro da mama na ilha do Pico (1998-2008) uma perspectiva epidemiológica

Mendes, A. S., Mateus, F., Nogueira, J., Branco, L., Rodrigues, L., Dias, S. S., Nunes, L. & Torgal, J., 2011, In : Acta medica portuguesa. 24, 5, p. 687-694 8 p.

Research output: Contribution to journalArticle

Open Access
File
Islands
Breast Neoplasms
Incidence
Students
Population

Monitoring programmes: The fundamental component of estuaries management. how to design one?

Nunes, L. M., Caeiro, S., Ramos, T. A. B., Cunha, M. C., Ribeiro, L. & Costa, M. H., 2005, Coastal Engineering VII - Modelling, Measurements, Engineering and Management of Seas and Coastal Regions. WITPress, Vol. 78. p. 37-53 17 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Estuaries
Monitoring
Estuary
Fundamental
Environmental management