Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

Issue Date	Title	Author(s)
2007	Francisella tularensis, Portugal	Lopes de Carvalho, Isabel; Escudero, R.; Garcia-Amil, C.; Falcão, H.; Anda, P.; Núncio, M.S.
Oct-2012	From multidrug-resistant to extensively drug-resistant tuberculosis in Lisbon, Portugal: the stepwise mode of resistance acquisition	Perdigao, João; Macedo, Rita; Silva, Carla; Machado, Diana; Couto, Isabel; Viveiros, Miguel; Jordao, Luisa; Portugal, Isabel
15-Jul-2010	Functional impact of global rare copy number variation in autism spectrum disorders	Pinto, D.; Pagnamenta, A.T.; Klei, L.; Anney, R.; Merico, D.; Regan, R.; Conroy, J.; Magalhaes, T.R.; Correia, C.; Abrahams, B.S.; Almeida, J.; Bacchelli, E.; Bader, G.D.; Bailey, A.J.; Baird, G.; Battaglia, A.; Berney, T.; Bolshakova, N.; Bölte, S.; Bolton, P.F.; Bourgeron, T.; Brennan, S.; Brian, J.; Bryson, S.E.; Carson, A.R.; Casallo, G.; Casey, J.; Chung, B.H.; Cochrane, L.; Corsello, C.; Crawford, E.L.; Crossett, A.; Cytrynbaum, C.; Dawson, G.; de Jonge, M.; Delorme, R.; Drmic, I.; Duketis, E.; Duque, F.; Estes, A.; Farrar, P.; Fernandez, B.A.; Folstein, S.E.; Fombonne, E.; Freitag, C.M.; Gilbert, J.; Gillberg, C.; Glessner, J.T.; Goldberg, J.; Green, A.; Green, J.; Guter, S.J.; Hakonarson, H.; Heron, E.A.; Hill, M.; Holt, R.; Howe, J.L.; Hughes, G.; Hus, V.; Igliozzi, R.; Kim, C.; Klauck, S.M.; Kolevzon, A.; Korvatska, O.; Kustanovich, V.; Lajonchere, C.M.; Lamb, J.A.; Laskawiec, M.; Leboyer, M.; Le Couteur, A.; Leventhal, B.L.; Lionel, A.C.; Liu, X.Q.; Lord, C.; Lotspeich, L.; Lund, S.C.; Maestrini, E.; Mahoney, W.; Mantoulan, C.; Marshall, C.R.; McConachie, H.; McDougle, C.J.; McGrath, J.; McMahon, W.M.; Merikangas, A.; Migita, O.; Minshew, N.J.; Mirza, G.K.; Munson, J.; Nelson, S.F.; Noakes, C.; Noor, A.; Nygren, G.; Oliveira, G.; Papanikolaou, K.; Parr, J.R.; Parrini, B.; Paton, T.; Pickles, A.; Pilorge, M.; Piven, J.; Ponting, C.P.; Posey, D.J.; Poustka, A.; Poustka, F.; Prasad, A.; Ragoussis, J.; Renshaw, K.; Rickaby, J.; Roberts, W.; Roeder, K.; Roge, B.; Rutter, M.L.; Bierut, L.J.; Rice, J.P.; Salt, J.; Sansom, K.; Sato, D.; Segurado, R.; Sequeira, A.F.; Senman, L.; Shah, N.; Sheffield, V.C.; Soorya, L.; Sousa, I.; Stein, O.; Sykes, N.; Stoppioni, V.; Strawbridge, C.; Tancredi, R.; Tansey, K.; Thiruvahindrapduram, B.; Thompson, A.P.; Thomson, S.; Tryfon, A.; Tsiantis, J.; Van Engeland, H.; Vincent, J.B.; Volkmar, F.; Wallace, S.; Wang, K.; Wang, Z.; Wassink, T.H.; Webber, C.; Weksberg, R.; Wing, K.; Wittemeyer, K.; Wood, S.; Wu, J.; Yaspan, B.L.; Zurawiecki, D.; Zwaigenbaum, L.; Buxbaum, J.D.; Cantor, R.M.; Cook, E.H.; Coon, H.; Cuccaro, M.L.; Devlin, B.; Ennis, S.; Gallagher, L.; Geschwind, D.H.; Gill, M.; Haines, J.L.; Hallmayer, J.; Miller, J.; Monaco, A.P.; Nurnberger Jr, J.I.; Paterson, A.D.; Pericak-Vance, M.A.; Schellenberg, G.D.; Szatmari, P.; Vicente, A.M.; Vieland, V.J.; Wijsman, E.M.; Scherer, S.W.; Sutcliffe, J.S.; Betancur, C.
Oct-2012	Fungal and microbial volatile organic compounds exposure assessment in a waste sorting plant	Malta-Vacas, Joana; Viegas, Susana; Sabino, Raquel; Viegas, Carla
20-Mar-2013	Fungal Contamination in Swine: A Potential Occupational Health Threat	Viegas, C.; Carolino, E.; Sabino, R.; Viegas, S.; Veríssimo, C.
2012	Fungal contamination of poultries litter: A public health problem	Viegas, C.; Carolino, E.; Malta-Vacas, J.; Sabino, R.; Viegas, S.; Veríssimo, C.
Oct-2012	Fungal contamination of poultry litter: a public health problem	Viegas, Carla; Carolino, Elisabete; Malta-Vacas, Joana; Sabino, Raquel; Viegas, Susana; Verissimo, Cristina
Feb-2013	Fungal Meningitis in an Immunocompetent Patient	Louro, R.; Ferreira, R.; Pinheiro, C.; Parada, H.; Faria, D.; Monteiro, E.
Jun-2011	FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes	Seixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; Pinto-Basto, Jorge; Coutinho, Paula; Margolis, Russell; Sequeiros, Jorge; Silveira, Isabel
Feb-2000	Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients	Amaral, O.; Marcão, A.; Sá Miranda, M.; Desnick, R.J.; Grace, M.E.
Sep-2009	Gaucher disease in Tunisia: High frequency of the most common mutations	Cherif, W.; Ben Turkia, H.; Ben Rhouma, F.; Riahi, I.; Chemli, J.; Kefi, R.; Messai, H.; Amaral, O.; Miranda, M.C.; Caillaud, C.; Tebib, N.; Ben Dridi, M.F.; Abdelhak, S.
Jun-2000	Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations	Diaz, G.A.; Gelb, B.D.; Risch, N.; Nygaard, T.G.; Frisch, A.; Cohen, I.J.; Miranda, C.S.; Amaral, O.; Maire, I.; Poenaru, L.; Caillaud, C.; Weizberg, M.; Mistry, P.; Desnick, R.J.
27-Apr-2011	Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders	Anney, R.J.; Kenny, E.M.; O'Dushlaine, C.; Parkhomenka, E.; Buxbaum, J.D.; Sutcliffe, J.; Gill, M.; Gallagher, L.; Bailey, A.J.; Fernandez, B.A.; Szatmari, P.; Scherer, S.W.; Patterson, A.; Marshall, C.R.; Pinto, D.; Vincent, J.B.; Fombonne, E.; Betancur, C.; Delorme, R.; Leboyer, M.; Bourgeron, T.; Mantoulan, C.; Roge, B.; Tauber, M.; Freitag, C.M.; Poustka, F.; Duketis, E.; Klauck, S.M.; Poustka, A.; Papanikolaou, K.; Tsiantis, J.; Gallagher, L.; Gill, M.; Anney, R.; Bolshakova, N.; Brennan, S.; Hughes, G.; McGrath, J.; Merikangas, A.; Ennis, S.; Green, A.; Casey, J.P.; Conroy, J.M.; Regan, R.; Shah, N.; Maestrini, E.; Bacchelli, E.; Minopoli, F.; Stoppioni, V.; Battaglia, A.; Igliozzi, R.; Parrini, B.; Tancredi, R.; Oliveira, G.; Almeida, J.; Duque, F.; Vicente, A.; Correia, C.; Magalhaes, T.R.; Gillberg, C.; Nygren, G.; Jonge, M.D.; Van Engeland, H.; Vorstman, J.A.; Wittemeyer, K.; Baird, G.; Bolton, P.F; Rutter, M.L.; Green, J.; Lamb, J.A.; Pickles, A.; Parr, J.R.; Couteur, A.L.; Berney, T.; McConachie, H.; Wallace, S.; Coutanche, M.; Foley, S.; White, K.; Monaco, A.P.; Holt, R.; Farrar, P.; Pagnamenta, A.T.; Mirza, G.K.; Ragoussis, J.; Sousa, I.; Sykes, N.; Wing, K.; Hallmayer, J.; Cantor, R.M.; Nelson, S.F.; Geschwind, D.H.; Abrahams, B.S.; Volkmar, F.; Pericak-Vance, M.A.; Cuccaro, M.L.; Gilbert, J.; Cook, E.H.; Guter, S.J.; Jacob, S.; Nurnberger Jr, J.I.; McDougle, C.J.; Posey, D.J.; Lord, C.; Corsello, C.; Hus, V.; Buxbaum, J.D.; Kolevzon, A.; Soorya, L.; Parkhomenko, E.; Leventhal, B.L.; Dawson, G.; Vieland, V.J.; Hakonarson, H.; Glessner, J.T.; Kim, C.; Wang, K.; Schellenberg, G.D.; Devlin, B.; Klei, L.; Minshew, N.; Sutcliffe, J.S.; Haines, J.L.; Lund, S.C.; Thomson, S.; Yaspan, B.L.; Coon, H.; Miller, J.; McMahon, W.M.; Munson, J.; Estes, A.; Wijsman, EM.; The Autism Genome Project
9-Feb-2012	Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders	Leblond, C.S.; Heinrich, J.; Delorme, R.; Proepper, C.; Betancur, C.; Huguet, G.; Konyukh, M.; Chaste, P.; Ey, E.; Rastam, M.; Anckarsäter, H.; Nygren, G.; Gillberg, I.C.; Melke, J.; Toro, R.; Regnault, B.; Fauchereau, F.; Mercati, O.; Lemière, N.; Skuse, D.; Poot, M.; Holt, R.; Monaco, A.P.; Järvelä, I.; Kantojärvi, K.; Vanhala, R.; Curran, S.; Collier, D.A.; Bolton, P.; Chiocchetti, A; Klauck, S.M.; Poustka, F.; Freitag, C.M.; Waltes, R.; Kopp, M.; Duketis, E.; Bacchelli, E.; Minopoli, F.; Ruta, L.; Battaglia, A.; Mazzone, L.; Maestrini, E.; Sequeira, A.F.; Oliveira, B.; Vicente, A.; Oliveira, G.; Pinto, D.; Scherer, S.W.; Zelenika, D.; Delepine, M.; Lathrop, M.; Bonneau, D.; Guinchat, V.; Devillard, F.; Assouline, B.; Mouren, M.C.; Leboyer, M.; Gillberg, C.; Boeckers, T.M.
18-Jul-2012	Genetic characterization of Bhanja virus and Palma virus, two tick-borne phleboviruses	Dilcher, M.; Alves, M.J.; Finkeisen, D.; Hufert, F.; Weidmann, M.
Sep-2011	Genetic defects in Portuguese families with inherited protein C deficiency	David, Dezso; Ferreira, Cristina; Ventura, Célia; Freire, Isabel; Moreira, Isabel; Gago, Teresa
May-2009	Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations	Bourbon, M.; Duarte, M.A.; Alves, A.C.; Medeiros, A.M.; Marques, L.; Soutar, A.K.
2010	Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility?	Navarro-Costa, Paulo; Plancha, Carlos E.; Gonçalves, João
Nov-2012	Genetic diversity and clonal evolution of carbapenem-resistant Acinetobacter baumannii isolates from Portugal and the dissemination of ST118	Manageiro, Vera; Jones-Dias, Daniela; Ferreira, Eugénia; Louro, Deolinda; Antimicrobial Resistance Surveillance Program in Portugal (ARSIP); Caniça, Manuela
1-Mar-2013	Genetic diversity, antibiotic resistance and biofilm-forming ability of Arcobacter butzleri isolated from poultry and environment from a Portuguese slaughterhouse	Ferreira, Susana; Fraqueza, Maria João; Queiroz, João; Domingues, Fernanda; Oleastro, Mónica

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