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TITLE: Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
AUTHORS: Iglesias Romero, Ana Belen; Kaminska, Karolina; Quinodoz, Mathieu; Folcher, Marc; Lin, Siying; Arno, Gavin; Calado, Joaquim; Webster, Andrew R.; Moulin, Alexandre; Sousa, Ana Berta; Coutinho Santos, Luisa; Santos, Cristina; Rivolta, Carlo;
PUBLISHED: 2024, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 111, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
2
TITLE: Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants
AUTHORS: Barata, Rui; Fila, Marc; Dalla Vale, Fabienne; Bogarin, Roberto; Nunes, Paula; Ramalho, Jose; Rueff, Jose; Calado, Joaquim;
PUBLISHED: 2023, SOURCE: CLINICAL GENETICS, VOLUME: 104, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
3
TITLE: Cysteine as a Multifaceted Player in Kidney, the Cysteine-Related Thiolome and Its Implications for Precision Medicine  Full Text
AUTHORS: Correia, MJ; Pimpao, AB; Fernandes, DGF; Morello, J; Sequeira, CO; Calado, J; Antunes, AMM; Almeida, MS; Branco, P; Monteiro, EC; Vicente, JB; Serpa, J; Pereira, SA;
PUBLISHED: 2022, SOURCE: MOLECULES, VOLUME: 27, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 13
IN MY: ORCID
4
TITLE: Dissection of the role of microRNAs in cardiac fibrosis through functional genomics screenings  Full Text
AUTHORS: Rodrigues, F.; Bexiga, M.; Varanda, A.; Mano, M.;
PUBLISHED: 2022, SOURCE: CARDIOVASCULAR RESEARCH, VOLUME: 118, ISSUE: SUPPL 1
INDEXED IN: WOS
5
TITLE: Zebrafish Model as a Screen to Prevent Cyst Inflation in Autosomal Dominant Polycystic Kidney Disease
AUTHORS: Oliveira, I; Jacinto, R; Pestana, S; Nolasco, F; Calado, J; Lopes, SS; Roxo Rosa, M;
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 22, ISSUE: 16
INDEXED IN: Scopus WOS CrossRef: 1 Handle
IN MY: ORCID
6
TITLE: The Kidney Genetics Clinic: delivering precision medicine for kidney patients
AUTHORS: Joaquim Calado; Rui Barata; Rita Lucas; Telma Francisco; Rui Gonçalves; Nuno Ribeiro; Fernando Nolasco;
PUBLISHED: 2021, SOURCE: Portuguese Journal of Nephrology & Hypertension, VOLUME: 35, ISSUE: 3
INDEXED IN: CrossRef
IN MY: ORCID
7
TITLE: Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
AUTHORS: Kidd, K; Vylet'al, P; Schaeffer, C; Olinger, E; Zivna, M; Hodanova, K; Robins, V; Johnson, E; Taylor, A; Martin, L; Izzi, C; Jorge, SC; Calado, J; Torres, RJ; Lhotta, K; Steubl, D; Gale, DP; Gast, C; Gombos, E; Ainsworth, HC; Chen, YM; Almeida, JR; de Souza, CF; Silveira, C; Raposeiro, R; Weller, N; Conlon, PJ; Murray, SL; Benson, KA; Cavalleri, GL; Votruba, M; Vrbacka, A; Amoroso, A; Gianchino, D; Caridi, G; Ghiggeri, GM; Divers, J; Scolari, F; Devuyst, O; Rampoldi, L; Kmoch, S; Bleyer, AJ; ...More
PUBLISHED: 2020, SOURCE: KIDNEY INTERNATIONAL REPORTS, VOLUME: 5, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 31 Handle
IN MY: ORCID
8
TITLE: An Atypical Presentation of Thrombotic Microangiopathy After Lung Transplant: A Case Report
AUTHORS: Menezes, MD; Aires, I; Semedo, L; Calado, J; Ribeiro, F; Nolasco, F;
PUBLISHED: 2019, SOURCE: 17th Luso-Brazilian Congress of Transplantation / 14th Portugese Congress of Transplantation in TRANSPLANTATION PROCEEDINGS, VOLUME: 51, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
9
TITLE: Efeito da empagliflozina para além do controlo glicémico: benefício cardiovascular em doentes com DMT2 e doença cardiovascular estabelecida
AUTHORS: Pedro Monteiro; Carlos Aguiar; Pedro Matos; José Silva‐Nunes; Rita Birne; Patrícia Branco; Joaquim Calado; Miguel Melo; Jorge Polónia ;
PUBLISHED: 2019, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 38, ISSUE: 10
INDEXED IN: CrossRef: 1
IN MY: ORCID
10
TITLE: Efeito da empagliflozina para além do controlo glicémico: benefício cardiovascular em doentes com DMT2 e doença cardiovascular estabelecida. Effect of empagliflozin beyond glycemic control: cardiovascular benefit in patients with type 2 diabetes and established cardiovascular disease
AUTHORS: Pedro Monteiro; Carlos Aguiar; Pedro Matos; José Silva‐Nunes; Rita Birne; Patrícia Branco; Joaquim Calado; Miguel Melo; Jorge Polónia;
PUBLISHED: 2019, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 38, ISSUE: 10
INDEXED IN: Handle
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