Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
81
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
82
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
Handle83
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
Handle84
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
85
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
86
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
87
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
88
TITLE: Molecular study of Portuguese patients with clinical diagnosis of Shwachman-Diamond syndrome Full Text
AUTHORS: Costa, E ; Oliveira, J; Vieira, E; Duque, F; Garcia, P; Goncalves, I; Diego, L; Barbot, J; Santos, R;
PUBLISHED: 2007, SOURCE: 12th Congress of the European-Hematology-Association in HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, VOLUME: 92
AUTHORS: Costa, E ; Oliveira, J; Vieira, E; Duque, F; Garcia, P; Goncalves, I; Diego, L; Barbot, J; Santos, R;
PUBLISHED: 2007, SOURCE: 12th Congress of the European-Hematology-Association in HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, VOLUME: 92
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WOS Handle
WOS Handle89
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
