João Paulo Ferreira da Silva Oliveira


AuthID: R-000-7B1

Publicações Confirmadas: 121



41
TÍTULO: Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families. COL4A5 -related nephropathies in Portugal   Full Text
AUTORES: Sa, MJN; Sampaio, S ; Oliveira, A; Alves, S; Carla Pinto Moura ; Silva, SE; Castro, R; Araujo, JA; Rodrigues, M; Neves, F; Seabra, J; Soares, C; Gaspar, MA; Tavares, I ; Freitas, L; Sousa, TC; Henriques, AC; Costa, FT; Morgado, E; Sousa, FT; Sousa, JP; da Costa, AG; Filipe, R; Garrido, J; Montalban, J; Ponce, P; Alves, R; Faria, B; Carvalho, MF; Pestana, M ; Carvalho, F ; Oliveira, JP ; ...Mais
PUBLICAÇÃO: 2015, FONTE: CLINICAL GENETICS, VOLUME: 88, NÚMERO: 5
INDEXADO EM: Scopus WOS CrossRef: 6
NO MEU: ORCID | CIÊNCIAVITAE
42
TÍTULO: Individuals With Normal GLA Gene Sequence May Present Abnormally Spliced Alpha-Galactosidase mRNA Transcripts
AUTORES: Susana Ferreira ; Miguel Viana-Baptista; Daniel Rodrigues; Oliveira, JP ;
PUBLICAÇÃO: 2015, FONTE: Gene, Cell and Tissue, VOLUME: 3, NÚMERO: 1
INDEXADO EM: CrossRef
NO MEU: ORCID | CIÊNCIAVITAE
43
TÍTULO: More on noncompaction in Fabry's disease
AUTORES: Elisabete Martins ; Oliveira, JP ;
PUBLICAÇÃO: 2015, FONTE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 34, NÚMERO: 4
INDEXADO EM: Scopus WOS CrossRef: 2
NO MEU: ORCID | CIÊNCIAVITAE
44
TÍTULO: Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document  Full Text
AUTORES: Marieke Biegstraaten; Reynir Arngrimsson; Frederic Barbey; Lut Boks; Franco Cecchi; Patrick B Deegan; Ulla Feldt Rasmussen; Tarekegn Geberhiwot; Dominique P Germain; Chris Hendriksz; Derralynn A Hughes; Ilkka Kantola; Nesrin Karabul; Christine Lavery; Gabor E Linthorst; Atul Mehta; Erica van de Mheen; Oliveira, JP ; Rossella Parini; Uma Ramaswami; Michael Rudnicki; Andreas Serra; Claudia Sommer; Gere Sunder Plassmann; Einar Svarstad; Annelies Sweeb; Wim Terryn; Anna Tylki Szymanska; Camilla Tondel; Bojan Vujkovac; Frank Weidemann; Frits A Wijburg; Peter Woolfson; Carla E M Hollak; ...Mais
PUBLICAÇÃO: 2015, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 10, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef: 234
NO MEU: ORCID | CIÊNCIAVITAE
45
TÍTULO: The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies  Full Text
AUTORES: Susana Ferreira ; Alberto Ortiz; Dominique P Germain; Miguel Viana Baptista; Antonio Caldeira Gomes; Marta Camprecios; Maria Fenollar Cortes; Angel Gallegos Villalobos; Diego Garcia; Jose A Antonio Garcia Robles; Jesus Egido; Eduardo Gutierrez Rivas; Jose A Antonio Herrero; Sebastian Mas; Raluca Oancea; Paloma Peres; Luis M Manuel Salazar Martin; Jesus Solera Garcia; Helena Alves; Scott C Garman; Oliveira, JP ; ...Mais
PUBLICAÇÃO: 2015, FONTE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 114, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef: 67
NO MEU: ORCID | CIÊNCIAVITAE
46
TÍTULO: The modulatory effects of the polymorphisms in GLA 5′-untranslated region upon gene expression are cell-type specific
AUTORES: Ferreira, S; Reguenga, C ; Oliveira, JP ;
PUBLICAÇÃO: 2015, FONTE: JIMD Reports, VOLUME: 23
INDEXADO EM: Scopus CrossRef: 10
NO MEU: ORCID | CIÊNCIAVITAE
47
TÍTULO: Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma  Full Text
AUTORES: Susana Ferreira ; Christiane Auray Blais; Michel Boutin; Pamela Lavoie; Jose Pedro Nunes ; Elisabete Martins ; Scott Garman; Oliveira, JP ;
PUBLICAÇÃO: 2015, FONTE: CLINICA CHIMICA ACTA, VOLUME: 447
INDEXADO EM: Scopus WOS CrossRef: 19
NO MEU: ORCID | CIÊNCIAVITAE
48
TÍTULO: A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia
AUTORES: Seabra, CM; Quental, S; Neto, AP ; Carvalho, F ; Goncalves, J; Oliveira, JP ; Fernandes, S; Sousa, M ; Barros, A ; Amorim, Antonio ; Lopes, AM;
PUBLICAÇÃO: 2014, FONTE: REPRODUCTIVE BIOMEDICINE ONLINE, VOLUME: 29, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef: 17 Handle
NO MEU: ORCID | CIÊNCIAVITAE
49
TÍTULO: Consensus recommendation on Fabry disease diagnosis in adult patients with kidney disease  Full Text
AUTORES: van der Tol, L; Biegstraaten, M; Florquin, S; Vogt, L; Weerman, MAV; Hollak, CEM; Hughes, DA; Lachmann, RH; Oliveira, JP ; Ortiz, AA; Svarstad, E; Terryn, W; Tondel, C; Waldek, S; Wanner, C; West, ML; Linthorst, GE;
PUBLICAÇÃO: 2014, FONTE: 10th Annual World Symposium of the Lysosomal-Disease-Network (LDN) in MOLECULAR GENETICS AND METABOLISM, VOLUME: 111, NÚMERO: 2
INDEXADO EM: WOS CrossRef
NO MEU: ORCID | CIÊNCIAVITAE
50
TÍTULO: GENETIC DISEASES AND MOLECULAR GENETICS
AUTORES: Athanasiou, Y; Zavros, M; Arsali, M; Papazachariou, L; Demosthenous, P; Savva, I; Voskarides, K; Deltas, C; Pierides, A; Feriozzi, S; Perrin, A; West, M; Nicholls, K; Sunder-Plassmann, G; Torras, J; Neumann, P; Cybulla, M; Cofiell, R; Kukreja, A; Bedard, K; Yan, Y; Mickle, A; Ogawa, M; Bedrosian, C; Faas, S; Meszaros, K; Pruess, L; Gondan, M; Ritz, E; Schaefer, F; Testa, A; Spoto, B; Leonardis, D; Sanguedolce, MC; Pisano, A; Parlongo, MR; Tripepi, G; Mallamaci, F; Zoccali, C; Trujillano, D; Bullich, G; Ballarin, J; Torra, R; Estivill, X; Ars, E; Kleber, ME; Delgado, G; Grammer, TB; Silbernagel, G; Kraemer, BK; Maerz, W; Riccio, E; Pisani, A; Abdalla, AA; Malone, AF; Winn, MP; Goodship, T; Cronin, C; Conlon, PJ; Casserly, LF; Nishio, S; Sakuhara, Y; Matsuoka, N; Yamamoto, J; Nakazawa, D; Nakagakaki, T; Abo, D; Shibazaki, S; Atsumi, T; Mazzinghi, B; Giglio, S; Provenzano, A; Becherucci, F; Sansavini, G; Ravaglia, F; Roperto, RM; Murer, L; Lasagni, L; Materassi, M; Romagnani, P; Schmidts, M; Christou, S; Cortes, C; McInerney-Leo, A; Kayserili, H; Zankl, A; Peter, S; Duncan, E; Wicking, C; Beales, PL; Mitchison, H; Magestro, M; Vekeman, F; Nichols, T; Karner, P; Duh, MS; Srivastava, B; Van Doorn-Khosrovani, SBVW; Zonnenberg, BA; Musetti, C; Quaglia, M; Ghiggeri, GM; Fogazzi, GB; Settanni, F; Boldorini, RL; Lazzarich, E; Airoldi, A; Izzo, C; Giordano, M; Stratta, P; Garrido, P; Fernandes, JC; Ribeiro, S; Belo, L; Costa, EC ; Reis, F; Santos-Silva, A; Youssef, DM; Alshal, AS; Salah, K; Rashed, AE; Kingswood, JC; Jozwiak, S; Belousova, E; Frost, M; Kuperman, R; Bebin, EM; Korf, B; Flamini, JR; Kohrman, MH; Sparagana, S; Wu, JY; Berkowitz, N; Miao, S; Segal, S; Ridolfi, A; Bissler, JJ; Franz, DN; Oud, MM; Van Bon, BW; Bongers, EM; Hoischen, A; Marcelis, CL; De Leeuw, N; Mol, SJ; Mortier, G; Knoers, NV; Brunner, HG; Roepman, R; Arts, HH; Van Eerde, AM; Van Der Zwaag, B; Lilien, MR; Renkema, KY; De Borst, MH; Van Haaften, G; Giles, RH; Navis, GJ; Knoers, NVAM; K.-C Lu; S.-L Su; Gigante, M; Santangelo, L; Diella, S; Argentiero, L; Cianciotta, F; Martino, M; Ranieri, E; Grandaliano, G; Giordano, M; Gesualdo, L; Fernandes, J; Ribeiro, S; Garrido, P; Sereno, J; Costa, E; Reis, F; Santos-Silva, A; Chub, O; Aires, I; Polidori, D; Santos, AR; Brito Costa, A; Simoes, C; Rueff, J; Nolasco, F; Calado, J; Van Der Tol, L; Biegstraaten, M; Florquin, S; Vogt, L; Van Den Bergh Weerman, MA; Hollak, CE; Hughes, DA; Lachmann, RH; Oliveira, JP ; Ortiz, A; Svarstad, E; Terryn, W; Tondel, C; Waldek, S; Wanner, C; West, ML; Linthorst, GE; Kaesler, N; Brandenburg, V; Theuwissen, E; Vermeer, C; Floege, J; Schlieper, G; Kruger, T; Xydakis, D; Goulielmos, G; Antonaki, E; Stylianoy, K; Sfakianaki, M; Papadogiannakis, A; Dafnis, E; Mdimegh, S; Ben Hadj Mbarek - Fredj, I; Moussa, A; Omezzine, A; Zellama, D; Mabrouk, S; Zouari, N; Hassayoun, S; Chemli, J; Achour, A; Bouslama, A; Abroug, S; Spoto, B; Leonardis, D; Politi, C; Pisano, A; Cutrupi, S; Testa, A; Parlongo, RM; D'Arrigo, G; Tripepi, G; Mallamaci, F; Zoccali, C; Mdimegh, S; Ben Hadj Mbarek - Fredj, I; Moussa, A; Omezzine, A; Mabrouk, S; Zouari, N; Hassayoun, S; Chemli, J; Zellama, D; Achour, A; Bouslama, A; Abroug, S; Hohenstein-Scheibenecker, K; Schmidt, A; Stylianou, KG; Kyriazis, J; Androvitsanea, A; Tzanakakis, M; Maragkaki, E; Petrakis, J; Stratakis, S; Poulidaki, R; Vardaki, E; Petra, C; Statigis, S; Perakis, K; Daphnis, E; Cybulla, M; West, M; Nicholls, K; Torras, J; Neumann, P; Sunder-Plassmann, G; Feriozzi, S; Metzinger-Le Meuth, V; Taibi, F; M'Baya-Moutoula, E; Louvet, L; Massy, Z; Metzinger, L; L.-Y Mani; Sidler, D; Vogt, B; Nikolskaya, N; Cox, JA; Kingswood, JC; Smirnov, A; Zarayski, M; Kayukov, I; Karunnaya, H; Sipovski, V; Kukoleva, L; Dobronravov, V; On Behalf Of The Fabry Outcome Survey Renal Working Group, ; - On Behalf Of The MAURO Working Group, ; Uk1ok Consortium, ; - On Behalf Of The MAURO Working Group, ; On Behalf Of The Fabry Outcome Survey Renal Working Group, ; ...Mais
PUBLICAÇÃO: 2014, FONTE: Nephrology Dialysis Transplantation, VOLUME: 29, NÚMERO: suppl 3
INDEXADO EM: CrossRef
NO MEU: CIÊNCIAVITAE
Página 5 de 13. Total de resultados: 121.

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