Márcia Eduarda Maciel de Oliveira
AuthID: R-00H-H5D
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TITLE: VEXAS Syndrome: A Call for Diagnostic Awareness Based on a Case Series of Seven Patients
AUTHORS: Filipe R. Pinto; António Lamas; Daniel G. Oliveira; Márcia E. Oliveira; Raquel Faria;
PUBLISHED: 2023, SOURCE: Acta Médica Portuguesa
AUTHORS: Filipe R. Pinto; António Lamas; Daniel G. Oliveira; Márcia E. Oliveira; Raquel Faria;
PUBLISHED: 2023, SOURCE: Acta Médica Portuguesa
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TITLE: Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis Full Text
AUTHORS: Tavares, I; Silvano, J; Moreira, L; Oliveira, ME; Silva, R; Sampaio, S ; Costa, PP ; Lobato, L;
PUBLISHED: 2019, SOURCE: 16th International Symposium on Amyloidosis (ISA) in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 26, ISSUE: sup1
AUTHORS: Tavares, I; Silvano, J; Moreira, L; Oliveira, ME; Silva, R; Sampaio, S ; Costa, PP ; Lobato, L;
PUBLISHED: 2019, SOURCE: 16th International Symposium on Amyloidosis (ISA) in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 26, ISSUE: sup1
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TITLE: Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant
AUTHORS: Tavares, I ; Oliveira, ME; Maia, N; Moreira, L; Lacerda, PC; Santos, J; Santos, R; Costa, PP ; Lobato, L;
PUBLISHED: 2019, SOURCE: 16th International Symposium on Amyloidosis (ISA) in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 26, ISSUE: sup1
AUTHORS: Tavares, I ; Oliveira, ME; Maia, N; Moreira, L; Lacerda, PC; Santos, J; Santos, R; Costa, PP ; Lobato, L;
PUBLISHED: 2019, SOURCE: 16th International Symposium on Amyloidosis (ISA) in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 26, ISSUE: sup1
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TITLE: LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-alpha 2 variome and its related phenotypes Full Text
AUTHORS: Oliveira, J; Gruber, A; Cardoso, M; Taipa, R; Fineza, I; Goncalves, A ; Laner, A; Winder, TL; Schroeder, J; Rath, J; Oliveira, ME; Vieira, E; Sousa, AP; Vieira, JP; Lourenco, T; Almendra, L; Negrao, L; Santos, M; Melo Pires, M; Coelho, T; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 10
AUTHORS: Oliveira, J; Gruber, A; Cardoso, M; Taipa, R; Fineza, I; Goncalves, A ; Laner, A; Winder, TL; Schroeder, J; Rath, J; Oliveira, ME; Vieira, E; Sousa, AP; Vieira, JP; Lourenco, T; Almendra, L; Negrao, L; Santos, M; Melo Pires, M; Coelho, T; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 10
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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: Reviewing large LAMA2 deletions and duplications in congenital muscular dystrophy patients
AUTHORS: Oliveira, J; Gonçalves, A; Oliveira, ME; Fineza, I; Pavanello, RCM; Vainzof, M; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Santos, R; Sousa, M;
PUBLISHED: 2014, SOURCE: Journal of Neuromuscular Diseases, VOLUME: 1, ISSUE: 2
AUTHORS: Oliveira, J; Gonçalves, A; Oliveira, ME; Fineza, I; Pavanello, RCM; Vainzof, M; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Santos, R; Sousa, M;
PUBLISHED: 2014, SOURCE: Journal of Neuromuscular Diseases, VOLUME: 1, ISSUE: 2
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TITLE: Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database
AUTHORS: Oliveira, J; Oliveira, ME; Kress, W; Taipa, R; Pires, MM ; Hilbert, P; Baxter, P; Santos, M; Buermans, H; den Dunnen, JT; Santos, R;
PUBLISHED: 2013, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 21, ISSUE: 5
AUTHORS: Oliveira, J; Oliveira, ME; Kress, W; Taipa, R; Pires, MM ; Hilbert, P; Baxter, P; Santos, M; Buermans, H; den Dunnen, JT; Santos, R;
PUBLISHED: 2013, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 21, ISSUE: 5
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TITLE: LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients Full Text
AUTHORS: Oliveira, J; Santos, R; Soares Silva, I ; Jorge, P; Vieira, E; Oliveira, ME; Moreira, A; Coelho, T; Ferreira, JC; Fonseca, MJ; Barbosa, C; Prats, J; Ariztegui, ML; Martins, ML; Moreno, T; Heinimann, K; Barbot, C ; Pascual Pascual, SI; Cabral, A; Fineza, I; ...More
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 6
AUTHORS: Oliveira, J; Santos, R; Soares Silva, I ; Jorge, P; Vieira, E; Oliveira, ME; Moreira, A; Coelho, T; Ferreira, JC; Fonseca, MJ; Barbosa, C; Prats, J; Ariztegui, ML; Martins, ML; Moreno, T; Heinimann, K; Barbot, C ; Pascual Pascual, SI; Cabral, A; Fineza, I; ...More
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 6
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TITLE: Selective detection of UCP 3 expression in skeletal muscle: effect of thyroid status and temperature acclimation Full Text
AUTHORS: Cunningham, O; McElligott, AM; Carroll, AM; Breen, E; Reguenga, C ; Oliveira, MEM; Azevedo, JE ; Porter, RK;
PUBLISHED: 2003, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, VOLUME: 1604, ISSUE: 3
AUTHORS: Cunningham, O; McElligott, AM; Carroll, AM; Breen, E; Reguenga, C ; Oliveira, MEM; Azevedo, JE ; Porter, RK;
PUBLISHED: 2003, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, VOLUME: 1604, ISSUE: 3
