Susana Maria Gouveia Fernandes
AuthID: R-000-K31
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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
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
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TITLE: Novel Insights Into Lifetime Risk In HDGC: Lower Cancer Risk For The Most Recurrent <i>CDH1</i> Variant In Europe
AUTHORS: Barbosa Matos, Rita; Fonseca, Joao; Garrido, Luzia; Seixas, Susana; Freixo, Joao Parente; Oliveira, Renata; Hueneburg, Robert; Benusiglio, Patrick; Dahan, Karin; Feret, Damien; Spier, Isabel; Aretz, Stefan; Desseignes, Camille; Quental, Ana Rita Ferreira Pacheco; Fernandes, Susana; Costa, Susy Cabral; Vilarinho, Lucia; Castedo, Sergio; Grangeia, Ana; Vasconcelos, Alice Porto Guerra; ...More
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
AUTHORS: Barbosa Matos, Rita; Fonseca, Joao; Garrido, Luzia; Seixas, Susana; Freixo, Joao Parente; Oliveira, Renata; Hueneburg, Robert; Benusiglio, Patrick; Dahan, Karin; Feret, Damien; Spier, Isabel; Aretz, Stefan; Desseignes, Camille; Quental, Ana Rita Ferreira Pacheco; Fernandes, Susana; Costa, Susy Cabral; Vilarinho, Lucia; Castedo, Sergio; Grangeia, Ana; Vasconcelos, Alice Porto Guerra; ...More
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: 
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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; ...More
PUBLISHED: 2023, SOURCE: LANCET ONCOLOGY, VOLUME: 24, ISSUE: 1
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; ...More
PUBLISHED: 2023, SOURCE: LANCET ONCOLOGY, VOLUME: 24, ISSUE: 1
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TITLE: Curcumin and 10-undecenoic acid as natural quorum sensing inhibitors of LuxS/AI-2 of Bacillus subtilis and LasI/LasR of Pseudomonas aeruginosa Full Text
AUTHORS: Fernandes, Susana; Borges, Anabela ; Gomes, Ines B.; Sérgio F. Sousa ; Simoes, Manuel ;
PUBLISHED: 2023, SOURCE: FOOD RESEARCH INTERNATIONAL, VOLUME: 165
AUTHORS: Fernandes, Susana; Borges, Anabela ; Gomes, Ines B.; Sérgio F. Sousa ; Simoes, Manuel ;
PUBLISHED: 2023, SOURCE: FOOD RESEARCH INTERNATIONAL, VOLUME: 165
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TITLE: Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
AUTHORS: Vasconcelos, Alice P.; Nogueira, Ana; Matos, Pedro; Pinto, Joel ; Pinho, Maria Joao; Fernandes, Susana; Doria, Sofia ; Carla Pinto Moura ;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 10
AUTHORS: Vasconcelos, Alice P.; Nogueira, Ana; Matos, Pedro; Pinto, Joel ; Pinho, Maria Joao; Fernandes, Susana; Doria, Sofia ; Carla Pinto Moura ;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 10
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TITLE: Acute respiratory distress due to a bronchogenic cyst submitted to percutaneous drainage followed by thoracoscopic resection
AUTHORS: Fragoso, AC ; Fernandes, S; Madureira, AM ; J. Estevão-Costa ;
PUBLISHED: 2021, SOURCE: PULMONOLOGY, VOLUME: 27, ISSUE: 4
AUTHORS: Fragoso, AC ; Fernandes, S; Madureira, AM ; J. Estevão-Costa ;
PUBLISHED: 2021, SOURCE: PULMONOLOGY, VOLUME: 27, ISSUE: 4
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TITLE: The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing Full Text
AUTHORS: Barbosa Matos, R; Silva, RL; Garrido, L; Aguiar, AC; Garcia Pelaez, J; Andre, A; Seixas, S; Sousa, SP; Ferro, L; Vilarinho, L; Gullo, I ; Devezas, V; Oliveira, R ; Fernandes, S; Costa, SC; Magalhaes, A; Baptista, M; Carneiro, F ; Pinheiro, H; Castedo, S ; ...More
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 17
AUTHORS: Barbosa Matos, R; Silva, RL; Garrido, L; Aguiar, AC; Garcia Pelaez, J; Andre, A; Seixas, S; Sousa, SP; Ferro, L; Vilarinho, L; Gullo, I ; Devezas, V; Oliveira, R ; Fernandes, S; Costa, SC; Magalhaes, A; Baptista, M; Carneiro, F ; Pinheiro, H; Castedo, S ; ...More
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 17
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TITLE: Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience Full Text
AUTHORS: Pinho, A; Barros, A ; Fernandes, S;
PUBLISHED: 2020, SOURCE: ANDROLOGY, VOLUME: 8, ISSUE: 2
AUTHORS: Pinho, A; Barros, A ; Fernandes, S;
PUBLISHED: 2020, SOURCE: ANDROLOGY, VOLUME: 8, ISSUE: 2
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TITLE: A case of germ-line mosaicism in Tuberous Sclerosis Full Text
AUTHORS: Ana Grangeia ; Joana Marques, CJ ; Susana Fernandes; Miguel Leao;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Ana Grangeia ; Joana Marques, CJ ; Susana Fernandes; Miguel Leao;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS10
TITLE: Next-Generation Sequencing for Molecular Diagnosis of Tumor Specimens from Patients with Advanced Lung Adenocarcinoma
AUTHORS: Maria Gabriela Fernandes; Jose Costa; Joana Reis; Conceicao Moura; Vanessa Santos; Henrique Queiroga; Adriana Magalhaes; Antonio Morais; Jose Machado; Venceslau Hespanhol;
PUBLISHED: 2017, SOURCE: JOURNAL OF THORACIC ONCOLOGY, VOLUME: 12, ISSUE: 1
AUTHORS: Maria Gabriela Fernandes; Jose Costa; Joana Reis; Conceicao Moura; Vanessa Santos; Henrique Queiroga; Adriana Magalhaes; Antonio Morais; Jose Machado; Venceslau Hespanhol;
PUBLISHED: 2017, SOURCE: JOURNAL OF THORACIC ONCOLOGY, VOLUME: 12, ISSUE: 1
INDEXED IN: WOS
WOS