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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
2
TITLE: Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy
AUTHORS: Francisco Pereira Gonçalves; Isabel Tavares ; Roberto Silva; Ana Teresa Nunes; Luciano Pereira; Andreia Campos; Joel Pinto; Ana Lopes; Marta Simões; Manuela Grazina; Agnes Fogo; Oliveira, JP;
PUBLISHED: 2024, SOURCE: American Journal of Kidney Diseases
INDEXED IN: Scopus CrossRef
3
TITLE: The Complexity of Decisions in Genetics: Annotation of Three Novel Variants in the PKD1 and PKD2 Genes
AUTHORS: Barata, Rui; Rocha, Liliana; Tavares, Isabel ; Pereira, Odete; Carvalho, Filipa ; Oliveira, Joao Paulo;
PUBLISHED: 2024, SOURCE: NEPHRON, VOLUME: 148, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef Unpaywall
4
TITLE: Diagnosis and referral of patients with AL amyloidosis in Portugal: results from a Delphi panel
AUTHORS: Rui Bergantim; André Caetano; Francisco F Silva; Isabel Tavares ; Manuela Ferreira; Ana R Jaime; Graça V Esteves;
PUBLISHED: 2023, SOURCE: Porto Biomedical Journal, VOLUME: 8, ISSUE: 5
INDEXED IN: CrossRef
5
TITLE: Lessons from Four Decades of Systemic Amyloidosis with Renal Involvement
AUTHORS: Oliveira Silva, Catarina; Marques, Nidia; Pinho, Ana; Poinhos, Rui ; Bergantim, Rui ; Nunes, Ana Teresa; Sampaio, Susana ; Rodrigues Pereira, Pedro; Silva, Roberto; Praca, Augusta; Frazao, Joao ; Pestana, Manuel ; Tavares, Isabel ;
PUBLISHED: 2023, SOURCE: NEPHRON, VOLUME: 147, ISSUE: 3-4
INDEXED IN: Scopus WOS CrossRef: 2 Unpaywall
6
TITLE: Raising Awareness Towards Underdiagnosed Renal Hypouricemia: A Case Report
AUTHORS: Pedro Gonçalves; Filipa Ferreira; Isabel Tavares ; Oliveira, JP ;
PUBLISHED: 2023, SOURCE: Portuguese Journal of Nephrology & Hypertension, VOLUME: 37
INDEXED IN: CrossRef: 1
7
TITLE: Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant
AUTHORS: Ferreira, Filipa; Bacelar, Clara Goncalves; Lisboa Goncalves, Pedro; Paulo, Nuria; Quental, Rita; Nunes, Ana Teresa; Silva, Roberto; Tavares, Isabel ;
PUBLISHED: 2023, SOURCE: NEFROLOGIA, VOLUME: 43
INDEXED IN: WOS CrossRef
IN MY: ORCID
8
TITLE: REVISITING THE PATHOGENIC ROLE OF THE SLC8A1 GENE IN A FAMILY WITH A NOVEL TERMINAL GROSS DELETION IN THE UMOD GENE
AUTHORS: Goncalves, Francisco; Goncalves, Pedro Lisboa; Quental, Rita; Fernandes, Susana; Quental, Sofia; Tavares, Isabel ; Oliveira, Joao Paulo;
PUBLISHED: 2023, SOURCE: 60th ERA Congress in NEPHROLOGY DIALYSIS TRANSPLANTATION, VOLUME: 38
INDEXED IN: WOS
9
TITLE: Autologous stem cell transplantation in al amyloidosis: A single centre experience
AUTHORS: Marques, I. Santos; Aguiar, E.; Bergantim, R.; Cancela Pires, J.; Tavares, I. ; Trigo, F.;
PUBLISHED: 2022, SOURCE: BONE MARROW TRANSPLANTATION, VOLUME: 57, ISSUE: SUPPL 1
INDEXED IN: WOS
10
TITLE: Spleen-Restricted Posttransplant Lymphoproliferative Disorder in the First Year After Kidney Transplant - A Case Report  Full Text
AUTHORS: Rodrigues, Ana Cunha; Fernandes, Sara; Bustorff, Manuela; Nunes, Ana Teresa; Ferreira, Ines; Tavares, Isabel ; Rocha, Ana; Carneiro, Ana; Sampaio, Susana Norton;
PUBLISHED: 2022, SOURCE: TRANSPLANTATION PROCEEDINGS, VOLUME: 54, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 2
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