António Jorge dos Santos Pereira de Sequeiros
AuthID: R-000-23K
61
TITLE: Interpreting sequence variants: a daily challenge in a clinical molecular genetics laboratory Full Text
AUTHORS: Rita Bastos Ferreira; Ana Filipa Brandao; Ana Margarida Lopes; Susana Sousa; Patricia Arinto; Sara Morais; Paulo Silva; Susana Barbosa; Diana Santos; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Rita Bastos Ferreira; Ana Filipa Brandao; Ana Margarida Lopes; Susana Sousa; Patricia Arinto; Sara Morais; Paulo Silva; Susana Barbosa; Diana Santos; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: 
WOS
WOS62
TITLE: Ancestral Origin and diffusion of Va150Met mutation in Transthyretin-Related Familial Amyloid Polyneuropathy (ATTRV50M) in the Portuguese populations Full Text
AUTHORS: Catia Leal; Teresa Coelho; Diana Santos; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Miguel Alves Ferreira; Carolina Lemos ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Catia Leal; Teresa Coelho; Diana Santos; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Miguel Alves Ferreira; Carolina Lemos ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS63
TITLE: Detection of copy number variations in rare Mendelian disorders using whole exome sequencing Full Text
AUTHORS: Susana Sousa; Paulo Silva; Susana Barbosa; Ana Lopes; Ana Filipa Brandao; Patricia Arinto; Sara Morais; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Susana Sousa; Paulo Silva; Susana Barbosa; Ana Lopes; Ana Filipa Brandao; Patricia Arinto; Sara Morais; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS64
TITLE: Parkin truncating variants result in a loss-of-function phenotype Full Text
AUTHORS: Santos, M; Morais, S; Pereira, C; Sequeiros, J; Alonso, I;
PUBLISHED: 2019, SOURCE: SCIENTIFIC REPORTS, VOLUME: 9, ISSUE: 1
AUTHORS: Santos, M; Morais, S; Pereira, C; Sequeiros, J; Alonso, I;
PUBLISHED: 2019, SOURCE: SCIENTIFIC REPORTS, VOLUME: 9, ISSUE: 1
65
TITLE: Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
AUTHORS: Fulya Akçimen; Sandra Martins; Calwing Liao; Cynthia V Bourassa; Hélène Catoire; Garth A Nicholson; Olaf Riess; Mafalda Raposo; Marcondes C França; João Vasconcelos; Manuela Lima; Iscia Lopes-Cendes; Maria Luiza Saraiva-Pereira; Laura B Jardim; Jorge Sequeiros; Patrick A Dion; Guy A Rouleau;
PUBLISHED: 2019
AUTHORS: Fulya Akçimen; Sandra Martins; Calwing Liao; Cynthia V Bourassa; Hélène Catoire; Garth A Nicholson; Olaf Riess; Mafalda Raposo; Marcondes C França; João Vasconcelos; Manuela Lima; Iscia Lopes-Cendes; Maria Luiza Saraiva-Pereira; Laura B Jardim; Jorge Sequeiros; Patrick A Dion; Guy A Rouleau;
PUBLISHED: 2019
66
TITLE: A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal Full Text
AUTHORS: Alves Ferreira, M; Coelho, T; Santos, D; Sequeiros, J; Alonso, I; Sousa, A; Lemos, C ;
PUBLISHED: 2018, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 55, ISSUE: 5
AUTHORS: Alves Ferreira, M; Coelho, T; Santos, D; Sequeiros, J; Alonso, I; Sousa, A; Lemos, C ;
PUBLISHED: 2018, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 55, ISSUE: 5
67
TITLE: Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study
AUTHORS: Alice Lopes; Alexandra Sousa; Isabel Fonseca ; Margarida Branco; Carla Rodrigues; Teresa Coelho; Jorge Sequeiros; Paula Freitas;
PUBLISHED: 2018, SOURCE: JOURNAL OF COMMUNITY GENETICS, VOLUME: 9, ISSUE: 1
AUTHORS: Alice Lopes; Alexandra Sousa; Isabel Fonseca ; Margarida Branco; Carla Rodrigues; Teresa Coelho; Jorge Sequeiros; Paula Freitas;
PUBLISHED: 2018, SOURCE: JOURNAL OF COMMUNITY GENETICS, VOLUME: 9, ISSUE: 1
68
TITLE: iBoccia: A Framework to Monitor the Boccia Gameplay in Elderly
AUTHORS: Vinicius Silva; Joao A Ramos ; Filomena Soares ; Paulo Novais ; Pedro Arezes ; Filipe Sousa ; Joana Silva; Antonio Santos;
PUBLISHED: 2018, SOURCE: 6th ECCOMAS Thematic Conference on Computational Vision and Medical Image Processing (VipIMAGE) in VIPIMAGE 2017, VOLUME: 27
AUTHORS: Vinicius Silva; Joao A Ramos ; Filomena Soares ; Paulo Novais ; Pedro Arezes ; Filipe Sousa ; Joana Silva; Antonio Santos;
PUBLISHED: 2018, SOURCE: 6th ECCOMAS Thematic Conference on Computational Vision and Medical Image Processing (VipIMAGE) in VIPIMAGE 2017, VOLUME: 27
69
TITLE: HIV-Infected Patients With and Without Lipodystrophy Under Combined Antiretroviral Therapy: Evaluation of Body Composition
AUTHORS: Ines Grenha; Joana Oliveira; Eva Lau ; Ana Cristina Santos ; Antonio Sarmento ; Jorge Pereira; Davide Carvalho ; Paula Freitas ;
PUBLISHED: 2018, SOURCE: JOURNAL OF CLINICAL DENSITOMETRY, VOLUME: 21, ISSUE: 1
AUTHORS: Ines Grenha; Joana Oliveira; Eva Lau ; Ana Cristina Santos ; Antonio Sarmento ; Jorge Pereira; Davide Carvalho ; Paula Freitas ;
PUBLISHED: 2018, SOURCE: JOURNAL OF CLINICAL DENSITOMETRY, VOLUME: 21, ISSUE: 1
70
TITLE: Visceral adipose tissue and carotid intima-media thickness in HIV-infected patients undergoing cART: a prospective cohort study Full Text
AUTHORS: Maria Teresa Beires; Andre Silva Pinto ; Ana Cristina Santos ; Antonio Jose Madureira; Jorge Pereira; Davide Carvalho ; Antonio Sarmento ; Paula Freitas ;
PUBLISHED: 2018, SOURCE: BMC INFECTIOUS DISEASES, VOLUME: 18, ISSUE: 1
AUTHORS: Maria Teresa Beires; Andre Silva Pinto ; Ana Cristina Santos ; Antonio Jose Madureira; Jorge Pereira; Davide Carvalho ; Antonio Sarmento ; Paula Freitas ;
PUBLISHED: 2018, SOURCE: BMC INFECTIOUS DISEASES, VOLUME: 18, ISSUE: 1
