António Jorge dos Santos Pereira de Sequeiros
AuthID: R-000-23K
31
TITLE: GENETIC VARIATION SPECTRUM OF ATP7B IN A COHORT OF 113 PATIENTS WITH WILSON DISEASE Full Text
AUTHORS: Freixo, Joao Parente; Lopes, Ana; Bastos Ferreira, Rita; Silva, Ermelinda Santos; Antunes, Henedina; Sequeiros, Jorge; Magalhaes, Marina; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: 25th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Freixo, Joao Parente; Lopes, Ana; Bastos Ferreira, Rita; Silva, Ermelinda Santos; Antunes, Henedina; Sequeiros, Jorge; Magalhaes, Marina; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: 25th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: 
WOS
WOS32
TITLE: INCIDENTAL CARRIER DETECTION OF 639 VARIANTS IN PATIENTS TESTED FOR DIAGNOSTIC PURPOSES: ADDED VALUE FOR GENETIC COUNSELLING AND A GLIMPSE ABOUT RECESSIVE DISEASES IN PORTUGAL Full Text
AUTHORS: Lopes, Fatima; Alves, Filipe; Silva, Paulo; Sousa, Susana; Morais, Sara; Sa, Joana; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Lopes, Alexandra; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Lopes, Fatima; Alves, Filipe; Silva, Paulo; Sousa, Susana; Morais, Sara; Sa, Joana; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Lopes, Alexandra; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS33
TITLE: PARKINSON DISEASE: EXPERIENCE OF TWO DECADES IN THE ANALYSIS OF PRKN GENE Full Text
AUTHORS: Brandao, Ana Filipa; Morais, Sara; Bastos Ferreira, Rita; Sousa, Susana; Magalhaes, Marina; Lima, Bastos; Grilo Goncalves, Jose Alves; Guedes, Leonor Correia; Mendes, Alexandre; Velon, Ana Graca; Bueno, Carlos Sanchez; Proenca, Joao; Costa, Maria Manuela; Oliveira, Ana; Ferreira, Joaquim; Blanco, Mario Romero; Araujo, Rui; Lampreia, Tania; Freixo, Joao Parente; Sequeiros, Jorge; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Brandao, Ana Filipa; Morais, Sara; Bastos Ferreira, Rita; Sousa, Susana; Magalhaes, Marina; Lima, Bastos; Grilo Goncalves, Jose Alves; Guedes, Leonor Correia; Mendes, Alexandre; Velon, Ana Graca; Bueno, Carlos Sanchez; Proenca, Joao; Costa, Maria Manuela; Oliveira, Ana; Ferreira, Joaquim; Blanco, Mario Romero; Araujo, Rui; Lampreia, Tania; Freixo, Joao Parente; Sequeiros, Jorge; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS34
TITLE: EPIGENETIC ANALYSIS OF THE CGRP PATHWAY GENES INVOLVED IN MIGRAINE Full Text
AUTHORS: Carvalho, Estefania; Dias, Andreia; Sousa, Alda; Sequeiros, Jorge; Lopes, Alexandra; Martins, Sandra; Pinto, Nadia ; Lemos, Carolina; Alves Ferreira, Miguel;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Carvalho, Estefania; Dias, Andreia; Sousa, Alda; Sequeiros, Jorge; Lopes, Alexandra; Martins, Sandra; Pinto, Nadia ; Lemos, Carolina; Alves Ferreira, Miguel;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS35
TITLE: DISCLOSURE OF GENETIC INFORMATION TO PATIENT`S RELATIVES: HEALTHCARE PROFESSIONALS' PERSPECTIVE ON PERCEIVED RESPONSIBILITIES AND CONFIDENTIALITY OF GENETIC INFORMATION Full Text
AUTHORS: Mendes, Alvaro; Paneque, Milena ; Sequeiros, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Mendes, Alvaro; Paneque, Milena ; Sequeiros, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS36
TITLE: EXPANDING THE MUTATIONAL SPECTRUM OF KMT2B GENE: SIX NOVEL VARIANTS AND TWO CASES WITH ATYPICAL PRESENTATIONS Full Text
AUTHORS: Lopes, Alexandra; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana Filipa; Lopes, Fatima; Bastos Ferreira, Rita; Santos, Mariana; Jorge, Andre; Januario, Cristina; Costa, Henrique Moniz; Bras, Ana Catarina; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Lopes, Alexandra; Sousa, Susana; Lopes, Ana; Silva, Paulo; Morais, Sara; Brandao, Ana Filipa; Lopes, Fatima; Bastos Ferreira, Rita; Santos, Mariana; Jorge, Andre; Januario, Cristina; Costa, Henrique Moniz; Bras, Ana Catarina; Quental, Rita; Leao, Miguel; Damasio, Joana; Magalhaes, Marina; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS37
TITLE: Professor Paula Coutinho (1941-2022) Full Text
AUTHORS: Teive, Helio Afonso Ghizoni; Coutinho, Leo; Ferreira, Joaquim Jose; Sequeiros, Jorge;
PUBLISHED: 2022, SOURCE: ARQUIVOS DE NEURO-PSIQUIATRIA, VOLUME: 80, ISSUE: 8
AUTHORS: Teive, Helio Afonso Ghizoni; Coutinho, Leo; Ferreira, Joaquim Jose; Sequeiros, Jorge;
PUBLISHED: 2022, SOURCE: ARQUIVOS DE NEURO-PSIQUIATRIA, VOLUME: 80, ISSUE: 8
38
TITLE: Congenital ataxia due to novel variant in ATP8A2 Full Text
AUTHORS: Damásio, J; Santos, D; Morais, S; Brás, J; Guerreiro, R; Sardoeira, A; Cavaco, S; Carrilho, I; Barbot, C; Barros, José ; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 1
AUTHORS: Damásio, J; Santos, D; Morais, S; Brás, J; Guerreiro, R; Sardoeira, A; Cavaco, S; Carrilho, I; Barbot, C; Barros, José ; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 1
39
TITLE: Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype Full Text
AUTHORS: Damásio, J; Santos, M; Samões, R; Araújo, M; Macedo, M; Sardoeira, A; Cavaco, S; Freitas, J; Barros, José ; Oliveira, J; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 6
AUTHORS: Damásio, J; Santos, M; Samões, R; Araújo, M; Macedo, M; Sardoeira, A; Cavaco, S; Freitas, J; Barros, José ; Oliveira, J; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 6
40
TITLE: Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report
AUTHORS: Joana Damásio; Ana Sardoeira; Maria Araújo; Isabel Carvalho; Jorge Sequeiros; Barros, José ;
PUBLISHED: 2021, SOURCE: Cerebellum and Ataxias, VOLUME: 8, ISSUE: 1
AUTHORS: Joana Damásio; Ana Sardoeira; Maria Araújo; Isabel Carvalho; Jorge Sequeiros; Barros, José ;
PUBLISHED: 2021, SOURCE: Cerebellum and Ataxias, VOLUME: 8, ISSUE: 1
