Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
31
TITLE: Identifying novel genetic causes for hereditary myopathies: from conventional approaches to next-generation sequencing
AUTHORS: Jorge M d S M de Oliveira;
PUBLISHED: 2019
AUTHORS: Jorge M d S M de Oliveira;
PUBLISHED: 2019
INDEXED IN: 
Handle
Handle32
TITLE: Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Hortal, A; Garcia, VV; Hernandez Rivas, JM; Lozano, ML; Gonzalez Porras, JR; ...More
PUBLISHED: 2018, SOURCE: 60th Annual Meeting of the American-Society-of-Hematology (ASH) in BLOOD, VOLUME: 132, ISSUE: Supplement 1
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Hortal, A; Garcia, VV; Hernandez Rivas, JM; Lozano, ML; Gonzalez Porras, JR; ...More
PUBLISHED: 2018, SOURCE: 60th Annual Meeting of the American-Society-of-Hematology (ASH) in BLOOD, VOLUME: 132, ISSUE: Supplement 1
33
TITLE: Epididymal metastasis from prostate adenocarcinoma: An unusual and challenging diagnosis suspected in gallium-68 prostate-specific membrane antigen-positron emission tomography/computed tomography and histologically confirmed Full Text
AUTHORS: Sofia Santos Lopes; Joao Lobo; Rui Henrique ; Jorge Oliveira;
PUBLISHED: 2017, SOURCE: UROLOGY ANNALS, VOLUME: 9, ISSUE: 1
AUTHORS: Sofia Santos Lopes; Joao Lobo; Rui Henrique ; Jorge Oliveira;
PUBLISHED: 2017, SOURCE: UROLOGY ANNALS, VOLUME: 9, ISSUE: 1
34
TITLE: MicroRNA promoter methylation: a new tool for accurate detection of urothelial carcinoma Full Text
AUTHORS: Nuno Andre Padrao; Sara Monteiro Reis; Jorge Torres Ferreira; Luis Antunes; Luis Leca; Diana Montezuma; Joao Ramalho Carvalho; Paula C Dias; Paula Monteiro; Jorge Oliveira; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2017, SOURCE: BRITISH JOURNAL OF CANCER, VOLUME: 116, ISSUE: 5
AUTHORS: Nuno Andre Padrao; Sara Monteiro Reis; Jorge Torres Ferreira; Luis Antunes; Luis Leca; Diana Montezuma; Joao Ramalho Carvalho; Paula C Dias; Paula Monteiro; Jorge Oliveira; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2017, SOURCE: BRITISH JOURNAL OF CANCER, VOLUME: 116, ISSUE: 5
35
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
36
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
37
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
38
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
Scopus39
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
ORCID40
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
