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TITLE: Autosomal Dominant Polycystic Kidney Disease Inflammation Biomarkers in the Tolvaptan Era  Full Text
AUTHORS: Lapao, Tania; Barata, Rui; Jorge, Cristina; Flores, Carlos; Calado, Joaquim;
PUBLISHED: 2025, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 26, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies
AUTHORS: McAnallen, Susan M.; Elhassan, Elhussein A. E.; Stoneman, Sinead; Vairo, Filippo Pinto e; Hogan, Marie C.; Hoefele, Julia; Clince, Michelle; Mekraksakit, Poemlarp; Titan, Silvia M.; Jorge, Sofia; Calado, Joaquim; Decramer, Stephane; Colliou, Eloise; Tellier, Stephanie; Francisco, Telma; Servais, Aude; Cornet, Josephine; de Fallois, Jonathan; Dossier, Claire; Fenoglio, Roberta; Renieri, Alessandra; Pinto, Anna Maria; Daga, Sergio; Loberti, Lorenzo; Fila, Marc; Quintana, Luis F.; Becherucci, Francesca; Godefroid, Nathalie; Dubrasquet, Astrid; Kalman, Tory; Dolan, Niamh; Alawi, Bushra Al; Sweeney, Clodagh; Riordan, Michael; Stack, Maria; Awan, Atif; Hui, Ng Kar; McCarthy, Hugh J.; Biros, Erik; Harris, Trudie; Kidd, Kendrah; Haeberle, Stefanie; Bleyer, Anthony J.; Mallett, Andrew J.; Sayer, John A.; Schafer, Franz; Benson, Katherine A.; McCann, Emma; Conlon, Peter J.; ...More
PUBLISHED: 2025, SOURCE: NEPHROLOGY DIALYSIS TRANSPLANTATION
INDEXED IN: WOS CrossRef
IN MY: ORCID
3
TITLE: Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countries
AUTHORS: Charlotte Gimpel; Steffen Fieuws; Jonas Hofstetter; David Pitcher; Lotte Vanmeerbeek; Stefanie Haeberle; Angélique Dachy; Laura Massella; Tomas Seeman; Bruno Ranchin; Lise Allard; Justine Bacchetta; Umut S Bayrakci; Francesca Becherucci; Victor Perez-Beltran; Martine Besouw; Hanna Bialkevich; Olivia Boyer; Nur Canpolat; Dominique Chauveau; Neslihan Çiçek; Peter J Conlon; Olivier Devuyst; Claire Dossier; Marc Fila; Hana Flögelová; Astrid Godron-Dubrasquet; Ibrahim Gokce; Elsa Gonzalez Nguyen-Tang; Juan David González-Rodríguez; Anne Guffens; Giuseppe Grandaliano; Laurence Heidet; Augustina Jankauskiene; Tanja Kersnik Levart; Bertrand Knebelmann; Jens Christian König; Claudio La Scola; Valentina Fanny Leone; Valérie Leroy; Mieczyslaw Litwin; Laura Lucchetti; Adrian C Lungu; Pierluigi Marzuillo; Antonio Mastrangelo; Monika Miklaszewska; Giovanni Montini; François Nobili; Lukasz Obrycki; Svetlana Papizh; Aleksandra Paripović; Dušan Paripović; Licia Peruzzi; Ann Raes; Seha Saygili; Brankica Spasojević; Thomas Simon; Maria Szczepańska; Francesco Trepiccione; Nataša Marčun Varda; Rik Westland; Selcuk Yüksel; Iga Zaluska- Lesniewska; Julie Tenebaum; Reem Mustafa; Andrew J Mallett; Lisa M Guay-Woodford; Daniel P Gale; Detlef Böckenhauer; Max C Liebau; Franz Schaefer; Djalila Mekahli; Asgari, E; Bingham, C; Bramham, K; Fotheringham, J; Gittus, M; Harris, T; Hillman, K; Inston, N; Kerecuk, L; A.C.M Ong; Sandford, R; J.A Sayer; Simms, R; Sinha, M; Srivastava, S; Steenkamp, R; D.C Wheeler; Wilson, P; Winyard, P; Wood, G; Adoberg, A; A.C Afonso; Andersone, I; Arbeiter, K; Awan, A; Bammens, B; Bouts, A; Buescher, A; Calado, J; L.R Claus; Debska-Slizien, A; de Fallois, J; Furlano, M; Gabriele, M; Haffner, D; Koster-Kamphuis, L; Lugani, F; Miglinas, M; Oh, J; Pawlak-Bratkowska, M; Roccatello, D; E.E Rusu; Santo S Stefano; Scolari, F; Siomou, E; Skoberne, A; Debska-Slizien, A; Szabó, A; Vidal, E; Weitz, M; Chiodini, B; Cruz C Len Aguilera; Durao, F; Eid, L; Espino-Hernández, M; Furlano, M; M.S Geysen; Giordano, M; Godefroid, N; Groothoff, J; Hansen, P; Hooman, N; Josselin, B; Kemper, M; Liu, I; Lombet, J; Segers, N; Sinha, R; N.A Soliman; Stabouli, S; Stroescu, R; Sulakova, T; Szmigielska, A; Taranta-Janusz, K; Teixeira, A; Tkaczyk, M; Zvenigorodska, A; ...More
PUBLISHED: 2025, SOURCE: Kidney International, VOLUME: 108, ISSUE: 1
INDEXED IN: CrossRef: 1
IN MY: ORCID
4
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
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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
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TITLE: Oxalate (dys)Metabolism: Person-to-Person Variability, Kidney and Cardiometabolic Toxicity  Full Text
AUTHORS: Baltazar, Pedro; de Melo Jr, Antonio Ferreira; Fonseca, Nuno Moreira; Lanca, Miguel Brito; Faria, Ana ; Sequeira, Catarina O.; Teixeira Santos, Luisa; Monteiro, Emilia C.; Campos Pinheiro, Luis; Calado, Joaquim; Sousa, Catia; Morello, Judit; Pereira, Sofia A.;
PUBLISHED: 2023, SOURCE: GENES, VOLUME: 14, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
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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
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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
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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
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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
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