João Paulo Ferreira da Silva Oliveira


AuthID: R-000-7B1

Confirmed Publications: 112



41
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
42
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
43
TITLE: Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction
AUTHORS: Martins, E ; Pinho, T; Carpenter, S; Leite, S; Garcia, R; Madureira, A; Oliveira, JP ;
PUBLISHED: 2014, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 33, ISSUE: 9
INDEXED IN: Scopus CrossRef: 16
IN MY: ORCID | CIÊNCIAVITAE
44
TITLE: Deletion of the 5 ' exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
AUTHORS: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E Teixeira e Costa; Maria Jose Brito; Fernanda Carvalho; Marcia Rodrigues; Francisco Teixeira de Sousa; Joana Felgueiras; Fernando Neves; Adelino Carvalho; Umbelina Ramos; Jose Ramon Vizcaino; Susana Alves; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 17
IN MY: ORCID | CIÊNCIAVITAE
45
TITLE: Fibrosis: a key feature of Fabry disease with potential therapeutic implications  Full Text
AUTHORS: Frank Weidemann; Maria D Sanchez Nino; Juan Politei; Oliveira, JP ; Christoph Wanner; David G Warnock; Alberto Ortiz;
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 118
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
46
TITLE: Temporal intradiploic dilative vasculopathy: An additional pathogenic factor for the hearing loss in fabry disease?
AUTHORS: Carla Pinto Moura ; Soares, C; Seixas, D; Ayres Bastos, M; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JIMD Reports, VOLUME: 7
INDEXED IN: Scopus CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
47
TITLE: Comprehensive Genetic Analysis and Structural Characterization of CYP21A2 Mutations in CAH Patients
AUTHORS: Carvalho, B; Pereira, M; Marques, CJ ; Carvalho, D ; Leao, M; Oliveira, JP ; Barros, A ; Carvalho, F ;
PUBLISHED: 2012, SOURCE: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, VOLUME: 120, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
48
49
TITLE: Functional Transcranial Doppler: Presymptomatic Changes in Fabry Disease
AUTHORS: Global COVID-19 Stroke Registry ; Amelia Mendes; Daniela Seixas ; Rosa Santos; Pedro Castro ; Margarida Ayres Basto; Bernhard Rosengarten; Oliveira, JP ;
PUBLISHED: 2012, SOURCE: EUROPEAN NEUROLOGY, VOLUME: 67, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 21
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
50
Page 5 of 12. Total results: 112.

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