João Paulo Ferreira da Silva Oliveira


AuthID: R-000-7B1

Confirmed Publications: 110



31
TITLE: Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families. Collagen type IV-related nephropathies in Portugal  Full Text
AUTHORS: Sa, MJN; Storey, H; Flinter, F; Nagel, M; Sampaio, S; Castro, R; Araujo, JA; Gaspar, MA; Soares, C; Oliveira, A; Henriques, AC; da Costa, AG; Abreu, CP; Ponce, P; Alves, R; Pinho, L; Silva, SE; Carla Pinto Moura ; Mendonca, L; Carvalho, F ; Pestana, M ; Alves, S; Carvalho, F ; Oliveira, JP ; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 16
IN MY: ORCID | CIÊNCIAVITAE
32
TITLE: Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families. COL4A5 -related nephropathies in Portugal   Full Text
AUTHORS: 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 ; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID | CIÊNCIAVITAE
33
TITLE: Individuals With Normal GLA Gene Sequence May Present Abnormally Spliced Alpha-Galactosidase mRNA Transcripts
AUTHORS: Susana Ferreira ; Miguel Viana-Baptista; Daniel Rodrigues; Oliveira, JP ;
PUBLISHED: 2015, SOURCE: Gene, Cell and Tissue, VOLUME: 3, ISSUE: 1
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
34
TITLE: More on noncompaction in Fabry's disease
AUTHORS: Elisabete Martins ; Oliveira, JP ;
PUBLISHED: 2015, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 34, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
35
TITLE: Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document  Full Text
AUTHORS: 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; ...More
PUBLISHED: 2015, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 10, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 234
IN MY: ORCID | CIÊNCIAVITAE
36
TITLE: The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies  Full Text
AUTHORS: 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 ; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 114, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 67
IN MY: ORCID | CIÊNCIAVITAE
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39
TITLE: A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia
AUTHORS: Seabra, CM; Quental, S; Neto, AP ; Carvalho, F ; Goncalves, J; Oliveira, JP ; Fernandes, S; Sousa, M ; Barros, A ; Amorim, Antonio ; Lopes, AM;
PUBLISHED: 2014, SOURCE: REPRODUCTIVE BIOMEDICINE ONLINE, VOLUME: 29, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 17 Handle
IN MY: ORCID | CIÊNCIAVITAE
40
TITLE: Consensus recommendation on Fabry disease diagnosis in adult patients with kidney disease  Full Text
AUTHORS: 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;
PUBLISHED: 2014, SOURCE: 10th Annual World Symposium of the Lysosomal-Disease-Network (LDN) in MOLECULAR GENETICS AND METABOLISM, VOLUME: 111, ISSUE: 2
INDEXED IN: WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
Page 4 of 11. Total results: 110.

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