Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
41
TITLE: Exonization of an intronic LINE-1 element causing becker muscular dystrophy as a novel mutational mechanism in dystrophin gene Full Text
AUTHORS: Gonçalves, A ; Oliveira, J; Coelho, T; Taipa, R; Melo Pires, M; Sousa, M; Santos, R;
PUBLISHED: 2017, SOURCE: Genes, VOLUME: 8, ISSUE: 10
AUTHORS: Gonçalves, A ; Oliveira, J; Coelho, T; Taipa, R; Melo Pires, M; Sousa, M; Santos, R;
PUBLISHED: 2017, SOURCE: Genes, VOLUME: 8, ISSUE: 10
42
TITLE: Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases
AUTHORS: Oliveira, J; Pereira, R; Santos, R; Sousa, M ;
PUBLISHED: 2017, SOURCE: 10th International Joint Conference on Biomedical Engineering Systems and Technologies in PROCEEDINGS OF THE 10TH INTERNATIONAL JOINT CONFERENCE ON BIOMEDICAL ENGINEERING SYSTEMS AND TECHNOLOGIES, VOL 3: BIOINFORMATICS, VOLUME: 3
AUTHORS: Oliveira, J; Pereira, R; Santos, R; Sousa, M ;
PUBLISHED: 2017, SOURCE: 10th International Joint Conference on Biomedical Engineering Systems and Technologies in PROCEEDINGS OF THE 10TH INTERNATIONAL JOINT CONFERENCE ON BIOMEDICAL ENGINEERING SYSTEMS AND TECHNOLOGIES, VOL 3: BIOINFORMATICS, VOLUME: 3
43
TITLE: RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity among 17 Patients from a Portuguese Tertiary Centre
AUTHORS: Raquel Samões; Jorge Oliveira; Ricardo Taipa; Teresa Coelho; Márcio Cardoso; Ana Gonçalves; Rosário Santos; Manuel Melo Pires; Manuela Santos;
PUBLISHED: 2017, SOURCE: Journal of Neuromuscular Diseases, VOLUME: 4, ISSUE: 1
AUTHORS: Raquel Samões; Jorge Oliveira; Ricardo Taipa; Teresa Coelho; Márcio Cardoso; Ana Gonçalves; Rosário Santos; Manuel Melo Pires; Manuela Santos;
PUBLISHED: 2017, SOURCE: Journal of Neuromuscular Diseases, VOLUME: 4, ISSUE: 1
44
TITLE: The ever-growing understanding of transthyretin amyloidosis nephropathy
AUTHORS: Moreira, CL; Rocha, A; Santos, J; Santos, M; Beirão, I; Coelho, T; Lobato, L;
PUBLISHED: 2017, SOURCE: Amyloid, VOLUME: 24
AUTHORS: Moreira, CL; Rocha, A; Santos, J; Santos, M; Beirão, I; Coelho, T; Lobato, L;
PUBLISHED: 2017, SOURCE: Amyloid, VOLUME: 24
INDEXED IN: 
Scopus
Scopus45
TITLE: Phenotypic and genotypic characterization of MYH9 related macrothrombocytopenias in four Portuguese families Full Text
AUTHORS: Patricia Seabra; Catarina Lau; Ines Freitas; Jorge Oliveira; Rosario Santos; Eugenia Cruz; Maria Coutinho; Fernanda Leite; Manuel Campos; Sara Morais;
PUBLISHED: 2016, SOURCE: HAEMOPHILIA, VOLUME: 22
AUTHORS: Patricia Seabra; Catarina Lau; Ines Freitas; Jorge Oliveira; Rosario Santos; Eugenia Cruz; Maria Coutinho; Fernanda Leite; Manuel Campos; Sara Morais;
PUBLISHED: 2016, SOURCE: HAEMOPHILIA, VOLUME: 22
INDEXED IN: 
WOS
WOS IN MY: 
ORCID
ORCID46
TITLE: Histone methyltransferase PRMT6 plays an oncogenic role of in prostate cancer
AUTHORS: Diogo Almeida Rios; Ines Graca; Filipa Quintela Vieira; Joao Ramalho Carvalho; Eva Pereira Silva; Ana Teresa Martins; Jorge Oliveira; Celine S Goncalves; Bruno M Costa; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2016, SOURCE: ONCOTARGET, VOLUME: 7, ISSUE: 33
AUTHORS: Diogo Almeida Rios; Ines Graca; Filipa Quintela Vieira; Joao Ramalho Carvalho; Eva Pereira Silva; Ana Teresa Martins; Jorge Oliveira; Celine S Goncalves; Bruno M Costa; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2016, SOURCE: ONCOTARGET, VOLUME: 7, ISSUE: 33
47
TITLE: The genetics of hereditary myopathies revisited by massive parallel sequencing Full Text
AUTHORS: Jorge Oliveira; Conceicai Egas; Jose C Machado ; Mario Sousa ; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Jorge Oliveira; Conceicai Egas; Jose C Machado ; Mario Sousa ; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID48
TITLE: The expanding phenotype of LAMA2-related muscular dystrophies: Four additional cases diagnosed during adulthood Full Text
AUTHORS: Oliveira, J; Cardoso, M; Taipa, R; Goncalves, A; Oliveira, M; Melo Pires, M; Santos, M; Coelho, T; Santos, R;
PUBLISHED: 2016, SOURCE: 21st International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 26
AUTHORS: Oliveira, J; Cardoso, M; Taipa, R; Goncalves, A; Oliveira, M; Melo Pires, M; Santos, M; Coelho, T; Santos, R;
PUBLISHED: 2016, SOURCE: 21st International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 26
49
TITLE: Mutation analysis in patients with total sperm immotility and dysplasia of the fibrous sheath Full Text
AUTHORS: Rute Pereira; Jorge Oliveira; Luis Ferraz; Alberto Barros; Rosario Santos; Mario Sousa ;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Rute Pereira; Jorge Oliveira; Luis Ferraz; Alberto Barros; Rosario Santos; Mario Sousa ;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID50
TITLE: Beta choline kinase deficiency: a rare cause of muscular dystrophy, cardiomyopathy and intellectual disability Full Text
AUTHORS: Jorge Oliveira; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Rita Goncalves; Emilia Vieira; Marcia E Oliveira; Ana Maria Fortuna; Mario Sousa; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Jorge Oliveira; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Rita Goncalves; Emilia Vieira; Marcia E Oliveira; Ana Maria Fortuna; Mario Sousa; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID