Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
81
TITLE: Doenças musculares metabólicas e do neurónio motor
AUTHORS: Jorge Oliveira;
PUBLISHED: 2011, SOURCE: Reunião da Primavera da Sociedade Portuguesa de Estudos de Doenças Neuromusculares (SPEDNM), 26 março 2011
AUTHORS: Jorge Oliveira;
PUBLISHED: 2011, SOURCE: Reunião da Primavera da Sociedade Portuguesa de Estudos de Doenças Neuromusculares (SPEDNM), 26 março 2011
INDEXED IN: 
Handle
Handle82
TITLE: Expanding the mutation spectrum of the MTM1 gene: the first multi-exonic duplication and establishment of the MTM1 locus-specific database
AUTHORS: Jorge Oliveira; Márcia E Oliveira; Roel Brekelmans; Manuel Melo Pires; António Guimarães; Johan den Dunnen; Manuela Santos; Rosário Santos;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World Muscle Society, 18-22 Outubro 2011
AUTHORS: Jorge Oliveira; Márcia E Oliveira; Roel Brekelmans; Manuel Melo Pires; António Guimarães; Johan den Dunnen; Manuela Santos; Rosário Santos;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World Muscle Society, 18-22 Outubro 2011
INDEXED IN: Handle
Handle83
TITLE: Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms
AUTHORS: Sofia Duarte; Jorge Oliveira; Rosário Santos; Pedro Pereira; Cândida Barroso; Isabel Conceição; Teresinha Evangelista;
PUBLISHED: 2011, SOURCE: Muscle and Nerve
AUTHORS: Sofia Duarte; Jorge Oliveira; Rosário Santos; Pedro Pereira; Cândida Barroso; Isabel Conceição; Teresinha Evangelista;
PUBLISHED: 2011, SOURCE: Muscle and Nerve
INDEXED IN: Handle
Handle84
TITLE: Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome Full Text
AUTHORS: Jorge Oliveira; Cristina Dias; Egbert Redeker; Eurico Costa; Joao Silva; Margarida Reis Lima; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 11
AUTHORS: Jorge Oliveira; Cristina Dias; Egbert Redeker; Eurico Costa; Joao Silva; Margarida Reis Lima; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 11
85
TITLE: Private dysferlin exon skipping mutation (c.5492G > A) with a founder effect reveals further alternative splicing involving exons 49-51 Full Text
AUTHORS: Rosario Santos; Jorge Oliveira; Emilia Vieira; Teresa Coelho; Antonio Leite Carneiro; Teresinha Evangelista; Cristina Dias; Ana Fortuna; Argemiro Geraldo; Luis Negrao; Antonio Guimaraes; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 8
AUTHORS: Rosario Santos; Jorge Oliveira; Emilia Vieira; Teresa Coelho; Antonio Leite Carneiro; Teresinha Evangelista; Cristina Dias; Ana Fortuna; Argemiro Geraldo; Luis Negrao; Antonio Guimaraes; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 8
86
TITLE: Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51
AUTHORS: Rosário Santos; Jorge Oliveira; Emília Vieira; Teresa Coelho; António L Carneiro; Teresinha Evangelista; Cristina Dias; Ana Fortuna; Argemiro Geraldo; Luís Negrão; António Guimarães; Elsa Bronze da Rocha;
PUBLISHED: 2010, SOURCE: Journal of Human Genetics
AUTHORS: Rosário Santos; Jorge Oliveira; Emília Vieira; Teresa Coelho; António L Carneiro; Teresinha Evangelista; Cristina Dias; Ana Fortuna; Argemiro Geraldo; Luís Negrão; António Guimarães; Elsa Bronze da Rocha;
PUBLISHED: 2010, SOURCE: Journal of Human Genetics
INDEXED IN: Handle
Handle87
TITLE: Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome
AUTHORS: Jorge Oliveira; Cristina Dias; Egbert Redeker; Eurico Costa; João Silva; Margarida R Lima; Johan T Den Dunnen; Rosário Santos;
PUBLISHED: 2010, SOURCE: Human Mutation
AUTHORS: Jorge Oliveira; Cristina Dias; Egbert Redeker; Eurico Costa; João Silva; Margarida R Lima; Johan T Den Dunnen; Rosário Santos;
PUBLISHED: 2010, SOURCE: Human Mutation
INDEXED IN: Handle
Handle88
TITLE: Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy Full Text
AUTHORS: Jorge Oliveira; Isabel Soares Silva ; Ivo Fokkema; Ana Goncalves; Alexandra Cabral; Luisa Diogo; Lucia Galan; Antonio Guimaraes; Isabel Fineza; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2008, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 53, ISSUE: 6
AUTHORS: Jorge Oliveira; Isabel Soares Silva ; Ivo Fokkema; Ana Goncalves; Alexandra Cabral; Luisa Diogo; Lucia Galan; Antonio Guimaraes; Isabel Fineza; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2008, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 53, ISSUE: 6
89
TITLE: Founder effect of a new DYSF exon 48-skipping mutation detected in seven Portuguese dysferlinopathy patients Full Text
AUTHORS: Santos, R; Oliveira, J; Vieira, E; Coelho, T; Carneiro Leite, A; Evangelista, T; Fortuna, A; Geraldo, A; Luis, N; Guimaraes, A;
PUBLISHED: 2007, SOURCE: 12th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 17, ISSUE: 9-10
AUTHORS: Santos, R; Oliveira, J; Vieira, E; Coelho, T; Carneiro Leite, A; Evangelista, T; Fortuna, A; Geraldo, A; Luis, N; Guimaraes, A;
PUBLISHED: 2007, SOURCE: 12th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 17, ISSUE: 9-10
90
TITLE: Silent exonic substitution in POMGnT1 promotes exon skipping in a CMD patient Full Text
AUTHORS: Oliveira, J; Soares Silva, I; Goncalves, A; Fokkema, I; Cabral, A; Diogo, L; Galan, L; Guimaraes, A; Fineza, I; den Durmen, J; Santos, R;
PUBLISHED: 2007, SOURCE: 12th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 17, ISSUE: 9-10
AUTHORS: Oliveira, J; Soares Silva, I; Goncalves, A; Fokkema, I; Cabral, A; Diogo, L; Galan, L; Guimaraes, A; Fineza, I; den Durmen, J; Santos, R;
PUBLISHED: 2007, SOURCE: 12th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 17, ISSUE: 9-10
