Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
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TITLE: Accurate detection of upper tract urothelial carcinoma in tissue and urine by means of quantitative GDF15, TMEFF2 and VIM promoter methylation Full Text
AUTHORS: Sara Monteiro Reis; Luis Leca; Mafalda Almeida; Luis Antunes; Paula Monteiro; Paula C Dias; Antonio Morais; Jorge Oliveira; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF CANCER, VOLUME: 50, ISSUE: 1
AUTHORS: Sara Monteiro Reis; Luis Leca; Mafalda Almeida; Luis Antunes; Paula Monteiro; Paula C Dias; Antonio Morais; Jorge Oliveira; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF CANCER, VOLUME: 50, ISSUE: 1
52
TITLE: Atypical phenotype in two patients with LAMA2 mutations Full Text
AUTHORS: Joana Marques; Sofia T Duarte; Sonia Costa; Sandra Jacinto; Jorge Oliveira; Marcia E Oliveira; Rosario Santos; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Ana Rita Silvestre; Eulalia Calado; Teresinha Evangelista;
PUBLISHED: 2014, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 24, ISSUE: 5
AUTHORS: Joana Marques; Sofia T Duarte; Sonia Costa; Sandra Jacinto; Jorge Oliveira; Marcia E Oliveira; Rosario Santos; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Ana Rita Silvestre; Eulalia Calado; Teresinha Evangelista;
PUBLISHED: 2014, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 24, ISSUE: 5
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TITLE: Ryanodine Myopathies Without Central Cores-Clinical, Histopathologic, and Genetic Description of Three Cases Full Text
AUTHORS: Joao Rocha; Ricardo Taipa; Manuel Melo Pires; Jorge Oliveira; Rosario Santos; Manuela Santos;
PUBLISHED: 2014, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 51, ISSUE: 2
AUTHORS: Joao Rocha; Ricardo Taipa; Manuel Melo Pires; Jorge Oliveira; Rosario Santos; Manuela Santos;
PUBLISHED: 2014, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 51, ISSUE: 2
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TITLE: New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy Full Text
AUTHORS: Rosario Santos; Ana Goncalves; Jorge Oliveira; Emilia Vieira; Jose Pedro Vieira; Teresinha Evangelista; Teresa Moreno; Manuela Santos; Isabel Fineza; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2014, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 59, ISSUE: 8
AUTHORS: Rosario Santos; Ana Goncalves; Jorge Oliveira; Emilia Vieira; Jose Pedro Vieira; Teresinha Evangelista; Teresa Moreno; Manuela Santos; Isabel Fineza; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2014, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 59, ISSUE: 8
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TITLE: A molecular approach to sperm immotility in humans: A review
AUTHORS: Rute Pereira; Jorge Oliveira; Mário Sousa;
PUBLISHED: 2014, SOURCE: Medicina Reproductiva y Embriología Clínica, VOLUME: 1, ISSUE: 1
AUTHORS: Rute Pereira; Jorge Oliveira; Mário Sousa;
PUBLISHED: 2014, SOURCE: Medicina Reproductiva y Embriología Clínica, VOLUME: 1, ISSUE: 1
56
TITLE: The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia Full Text
AUTHORS: Catherine L Bladen; Karen Rafferty; Volker Straub; Soledad Monges; Angelica Moresco; Hugh Dawkins; Anna Roy; Teodora Chamova; Velina Guergueltcheva; Lawrence Korngut; Craig Campbell; Yi Dai; Nina Barisic; Tea Kos; Petr Brabec; Jes Rahbek; Jaana Lahdetie; Sylvie Tuffery Giraud; Mireille Claustres; France Leturcq; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 11
AUTHORS: Catherine L Bladen; Karen Rafferty; Volker Straub; Soledad Monges; Angelica Moresco; Hugh Dawkins; Anna Roy; Teodora Chamova; Velina Guergueltcheva; Lawrence Korngut; Craig Campbell; Yi Dai; Nina Barisic; Tea Kos; Petr Brabec; Jes Rahbek; Jaana Lahdetie; Sylvie Tuffery Giraud; Mireille Claustres; France Leturcq; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 11
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TITLE: A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene Full Text
AUTHORS: Costa, C; Oliveira, J; Goncalves, A; Santos, R; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Rebelo, O; Pais, RP; Fineza, I;
PUBLISHED: 2013, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 23, ISSUE: 7
AUTHORS: Costa, C; Oliveira, J; Goncalves, A; Santos, R; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Rebelo, O; Pais, RP; Fineza, I;
PUBLISHED: 2013, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 23, ISSUE: 7
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TITLE: Base de dados internacional de variantes genéticas do gene MTM1: contributos para o perfil epidemiológico da miopatia miotubular
AUTHORS: Jorge Oliveira; Rosário Oliveira; Márcia Santos;
PUBLISHED: 2013, VOLUME: 2(3)
AUTHORS: Jorge Oliveira; Rosário Oliveira; Márcia Santos;
PUBLISHED: 2013, VOLUME: 2(3)
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Handle59
TITLE: A Rare Disease Patient Manager
AUTHORS: Pedro Lopes ; Rafael Mendonca; Hugo Rocha; Jorge Oliveira; Laura Vilarinho; Rosario Santos; Jose Luis Oliveira ;
PUBLISHED: 2012, SOURCE: 6th International Conference on Practical Applications of Computational Biology and Bioinformatics (PACBB) in 6TH INTERNATIONAL CONFERENCE ON PRACTICAL APPLICATIONS OF COMPUTATIONAL BIOLOGY & BIOINFORMATICS, VOLUME: 154
AUTHORS: Pedro Lopes ; Rafael Mendonca; Hugo Rocha; Jorge Oliveira; Laura Vilarinho; Rosario Santos; Jose Luis Oliveira ;
PUBLISHED: 2012, SOURCE: 6th International Conference on Practical Applications of Computational Biology and Bioinformatics (PACBB) in 6TH INTERNATIONAL CONFERENCE ON PRACTICAL APPLICATIONS OF COMPUTATIONAL BIOLOGY & BIOINFORMATICS, VOLUME: 154
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TITLE: Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients Full Text
AUTHORS: Barbosa, M; Lopes, A; Mota, C; Martins, E ; Oliveira, J; Alves, S; De Bonis, P; Do Ceu C Mota; Dias, C; Paulo Rodrigues-Santos ; Fortuna, AM; Quelhas, D; Lacerda, L; Bisceglia, L; Cardoso, ML;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 1
AUTHORS: Barbosa, M; Lopes, A; Mota, C; Martins, E ; Oliveira, J; Alves, S; De Bonis, P; Do Ceu C Mota; Dias, C; Paulo Rodrigues-Santos ; Fortuna, AM; Quelhas, D; Lacerda, L; Bisceglia, L; Cardoso, ML;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 1
