João Paulo Ferreira da Silva Oliveira


AuthID: R-000-7B1

Confirmed Publications: 121



1
TITLE: Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy
AUTHORS: Goncalves, Francisco Pereira ; Tavares, Isabel ; Silva, Roberto; Nunes, Ana Teresa; Pereira, Luciano ; Campos, Andreia; Pinto, Joel ; Lopes, Ana; Simoes, Marta; Grazina, Manuela; Fogo, Agnes B.; Oliveira, JP ;
PUBLISHED: 2025, SOURCE: AMERICAN JOURNAL OF KIDNEY DISEASES, VOLUME: 85, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: CIÊNCIAVITAE
2
TITLE: Identification of genetic variants associated with Fabry nephropathy progression using whole-exome sequencing  Full Text
AUTHORS: Levstek, Tina; Vujkovac, Bojan; Nowak, Albina; Oliveira, JP ; Dostalova, Gabriela; Linhart, Ales; Safarikova, Marketa; Altarescu, Gheona; Podkrajsek, Katarina Trebusak;
PUBLISHED: 2025, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 145, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: CIÊNCIAVITAE
3
TITLE: Peroxidasin expression is increased in intratumoural capillaries and in proximal tubular cells adjacent to clear cell renal cell carcinoma  Full Text
AUTHORS: Silva, Roberto; Almeida, Jorge Reis; Coelho, Ana Rita; Brandao, Isabel; Gomes, Barbara; Alencastre, Ines Soares; Oliveira, JP ;
PUBLISHED: 2025, SOURCE: EXPERIMENTAL AND MOLECULAR PATHOLOGY, VOLUME: 143
INDEXED IN: Scopus WOS CrossRef
IN MY: CIÊNCIAVITAE
4
TITLE: Peroxidasin expression is increased in intratumoural capillaries and in proximal tubular cells adjacent to clear cell renal cell carcinoma.  Full Text
AUTHORS: Roberto Silva; Jorge Reis Almeida; Ana Rita Coelho; Isabel Brandão; Bárbara Gomes; Inês Soares Alencastre; Oliveira, JP ;
PUBLISHED: 2025, SOURCE: Experimental and Molecular Pathology, VOLUME: 143
INDEXED IN: CrossRef
IN MY: CIÊNCIAVITAE
5
TITLE: Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (GLA) gene
AUTHORS: José Pedro L Nunes ; Ricardo Soares dos Reis; Maria do Sameiro Faria; Elisabete Martins; Teresa Pinho; João Rebelo; Rute N Fonseca; Martin Balboa López; Susana Ferreira; Oliveira, JP ;
PUBLISHED: 2025, SOURCE: Porto Biomedical Journal, VOLUME: 10, ISSUE: 2
INDEXED IN: CrossRef Unpaywall
IN MY: CIÊNCIAVITAE
6
TITLE: Altered peroxidasin expression pattern in IgA nephropathy
AUTHORS: Silva, Roberto; Brandao, Isabel; Conde, Eduardo; Gomes, Barbara; Marti, Hans Peter; Chen, Tony; Faria, Bernardo ; Almeida, Jorge Reis; Alencastre, Ines; Oliveira, JP ;
PUBLISHED: 2024, SOURCE: 61st Congress of European-Renal-Association (ERA) in NEPHROLOGY DIALYSIS TRANSPLANTATION, VOLUME: 39, ISSUE: Supplement_1
INDEXED IN: WOS CrossRef
IN MY: CIÊNCIAVITAE
7
TITLE: Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?
AUTHORS: Marta Simões; Maria João Santos; Sara Martins; Maria do Carmo Macário; João Durães; Luísa Diogo; Oliveira, JP ; José Carlos Ferreira; Manuela Grazina;
PUBLISHED: 2024, SOURCE: Endocrine, Metabolic & Immune Disorders - Drug Targets, VOLUME: 24, ISSUE: 16
INDEXED IN: CrossRef: 1
IN MY: CIÊNCIAVITAE
8
TITLE: Development of an automated estimation of foot process width using deep learning in kidney biopsies from patients with Fabry, minimal change, and diabetic kidney diseases
AUTHORS: Smerkous, David; Mauer, Michael; Tondel, Camilla; Svarstad, Einar; Gubler, Marie Claire; Nelson, Robert G.; Oliveira, JP ; Sargolzaeiaval, Forough; Najafian, Behzad;
PUBLISHED: 2024, SOURCE: KIDNEY INTERNATIONAL, VOLUME: 105, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
9
TITLE: Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene
AUTHORS: Goncalves, Francisco; Lisboa Goncalves, Pedro; Quental, Rita; Fernandes, Susana; Quental, Sofia; Michel Calemard, Laurence; Goursaud, Claire; Marques, Sofia; Santos, Joana; Tavares, Isabel ; Oliveira, JP ;
PUBLISHED: 2024, SOURCE: 60th Congress of the European-Renal-Association (ERA) in NEFROLOGIA, VOLUME: 44, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
10
TITLE: GLA insufficiency should not be called Fabry disease
AUTHORS: Houge, Gunnar; Langeveld, Mirjam; Oliveira, JP ;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
Page 1 of 13. Total results: 121.

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