Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
31
TITLE: New Approaches in Molecular Diagnosis and Population Carrier Screening for Spinal Muscular Atrophy
AUTHORS: Miguel Goncalves Rocha; Jorge Oliveira; Luisa Rodrigues; Rosario Santos;
PUBLISHED: 2011, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 15, ISSUE: 5
AUTHORS: Miguel Goncalves Rocha; Jorge Oliveira; Luisa Rodrigues; Rosario Santos;
PUBLISHED: 2011, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 15, ISSUE: 5
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TITLE: New Approaches in Molecular Diagnosis and Population Carrier Screening for Spinal Muscular Atrophy
AUTHORS: Miguel Gonçalves-Rocha; Jorge Oliveira; Luísa Rodrigues; Rosário Santos;
PUBLISHED: 2011, SOURCE: Genetic Testing and Molecular Biomarkers, VOLUME: 15, ISSUE: 5
AUTHORS: Miguel Gonçalves-Rocha; Jorge Oliveira; Luísa Rodrigues; Rosário Santos;
PUBLISHED: 2011, SOURCE: Genetic Testing and Molecular Biomarkers, VOLUME: 15, ISSUE: 5
33
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
34
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
35
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
36
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
37
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
38
TITLE: Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome Full Text
AUTHORS: Elisio Costa ; Frederico Duque; Jorge Oliveira; Paula Garcia; Isabel Goncalves; Luisa Diogo; Rosario Santos;
PUBLISHED: 2007, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 39, ISSUE: 1
AUTHORS: Elisio Costa ; Frederico Duque; Jorge Oliveira; Paula Garcia; Isabel Goncalves; Luisa Diogo; Rosario Santos;
PUBLISHED: 2007, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 39, ISSUE: 1
39
TITLE: Age-related changes in rat cerebellar basket cells: a quantitative study using unbiased stereological methods Full Text
AUTHORS: Henrique, RF ; Rocha, Eduardo ; Reis, A ; Marcos, R; Oliveira, MH; Silva, MW; Monteiro, RAF ;
PUBLISHED: 2001, SOURCE: JOURNAL OF ANATOMY, VOLUME: 198, ISSUE: 6
AUTHORS: Henrique, RF ; Rocha, Eduardo ; Reis, A ; Marcos, R; Oliveira, MH; Silva, MW; Monteiro, RAF ;
PUBLISHED: 2001, SOURCE: JOURNAL OF ANATOMY, VOLUME: 198, ISSUE: 6
