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TITLE: Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes  Full Text
AUTHORS: Garcia Pelaez, Jose; Barbosa Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sergio; Sousa, Sonia; Pinheiro, Hugo; Sousa, Liliana ; Monteiro, Rita; Maqueda, Joaquin J.; Fernandes, Susana; Carneiro, Fatima ; Pinto, Nadia ; Lemos, Carolina ; Pinto, Carla; Teixeira, Manuel R. ; Aretz, Stefan; Bajalica Lagercrantz, Svetlana; Balmana, Judith; Blatnik, Ana; Benusiglio, Patrick R.; Blanluet, Maud; Bours, Vincent; Brems, Hilde; Brunet, Joan; Calistri, Daniele; Capella, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; de Putter, Robin; Desseignes, Camille; Dominguez Garrido, Elena; Egas, Conceicao; Evans, D. Gareth; Feret, Damien; Fewings, Eleanor; Fitzgerald, Rebecca C.; Coulet, Florence; Garcia Barcina, Maria; Genuardi, Maurizio; Golmard, Lisa; Hackmann, Karl; Hanson, Helen; Holinski Feder, Elke; Huneburg, Robert; Krajc, Mateja; Lagerstedt Robinson, Kristina; Lazaro, Conxi; Ligtenberg, Marjolijn J. L.; Martinez Bouzas, Cristina; Merino, Sonia; Michils, Genevieve; Novakovic, Srdjan; Patino Garcia, Ana; Ranzani, Guglielmina Nadia; Schrock, Evelin; Silva, Ines; Silveira, Catarina; Soto, Jose L.; Spier, Isabel; Steinke Lange, Verena; Tedaldi, Gianluca; Tejada, Maria Isabel; Woodward, Emma R.; Tischkowitz, Marc; Hoogerbrugge, Nicoline; Oliveira, Carla; ...More
PUBLISHED: 2023, SOURCE: LANCET ONCOLOGY, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 9
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TITLE: Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
AUTHORS: Jorge, Sofia; Kidd, Kendrah; Vylet'al, Petr; Nogueira, Estela; Martin, Lauren; Howard, Katrice; Baresova, Veronika; Hodanova, Katerina; Hnizda, Ales; Moldovan, Oana; Silveira, Catarina; Coutinho, Ana Margarida; Lopes, Jose Antonio; Bleyer, Anthony J.; Kmoch, Stanislav; Zivna, Martina;
PUBLISHED: 2023, SOURCE: KIDNEY INTERNATIONAL REPORTS, VOLUME: 8, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASES (ADTKD): SINGLE CENTER COHORT
AUTHORS: Jorge, Sofia; Silveira, Catarina; Rodrigues, Marcia; Godinho, Iolanda; Nogueira, Estela; Lopes, Jose Antonio;
PUBLISHED: 2022, SOURCE: NEPHROLOGY DIALYSIS TRANSPLANTATION, VOLUME: 37
INDEXED IN: WOS
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TITLE: Comprehensive Genomic Profiling of Cell-Free Circulating Tumor DNA Detects Response to Ribociclib Plus Letrozole in a Patient with Metastatic Breast Cancer  Full Text
AUTHORS: Silveira, Catarina; Sousa, Ana Carla; Corredeira, Patricia; Martins, Marta; Sousa, Ana Rita; Da Cruz Paula, Arnaud; Selenica, Pier; Brown, David N.; Golkaram, Mahdi; Kaplan, Shannon; Zhang, Shile; Liu, Li; Weigelt, Britta; Reis Filho, Jorge S.; Costa, Luis; Carmo Fonseca, Maria;
PUBLISHED: 2022, SOURCE: BIOMOLECULES, VOLUME: 12, ISSUE: 12
INDEXED IN: WOS
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TITLE: Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary
AUTHORS: Sarah H Kim; Arnaud Da Cruz Paula; Thais Basili; Higinio Dopeso; Rui Bi; Fresia Pareja; Edaise M da Silva; Rodrigo Gularte Merida; Zhen Sun; Sho Fujisawa; Caitlin G Smith; Lorenzo Ferrando; Ana Paula M Martins Sebastiao; Yonina Bykov; Anqi Q Li; Catarina Silveira; Charles W Ashley; Anthe Stylianou; Pier Selenica; Wesley R Samore; Achim A Jungbluth; Dmitriy Zamarin; Nadeem R Abu Rustum; Kristian Helin; Robert A Soslow; Jorge S Reis Filho; Esther Oliva; Britta Weigelt; ...More
PUBLISHED: 2020, SOURCE: NATURE COMMUNICATIONS, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
AUTHORS: Kendrah Kidd; Petr Vylet'al; Celine Schaeffer; Eric Olinger; Martina Zivna; Katerina Hodanova; Victoria Robins; Emily Johnson; Abbigail Taylor; Lauren Martin; Claudia Izzi; Sofia C Jorge; Joaquim Calado; Rosa J Torres; Karl Lhotta; Dominik Steubl; Daniel P Gale; Christine Gast; Eva Gombos; Hannah C Ainsworth; Ying Maggie Chen; Jorge Reis Almeida; Cintia Fernandes de Souza; Catarina Silveira; Rita Raposeiro; Nelson Weller; Peter J Conlon; Susan L Murray; Katherine A Benson; Gianpiero L Cavalleri; Miroslav Votruba; Alena Vrbacka; Antonio Amoroso; Daniela Gianchino; Gianluca Caridi; Gian Marco Ghiggeri; Jasmin Divers; Francesco Scolari; Olivier Devuyst; Luca Rampoldi; Stanislav Kmoch; Anthony J Bleyer; ...More
PUBLISHED: 2020, SOURCE: KIDNEY INTERNATIONAL REPORTS, VOLUME: 5, ISSUE: 9
INDEXED IN: Scopus WOS
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TITLE: A rare missense variant in RET exon 8 in a Portuguese family with atypical multiple endocrine neoplasia type 2A
AUTHORS: Ana Filipa Martins; Joao Martin Martins; Sonia do Vale; Teresa Dias; Catarina Silveira; Ines Rodrigues da Silva; Maria Carmo Fonseca;
PUBLISHED: 2016, SOURCE: HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, VOLUME: 15, ISSUE: 3
INDEXED IN: Scopus WOS