Isaura Manuela Duarte Ribeiro
AuthID: R-00H-H5J
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TITLE: Maturity-onset diabetes of the young in a large Portuguese cohort Full Text
AUTHORS: Monteiro, Silvia Santos; Santos, Tiago da Silva; Fonseca, Liliana; Assuncao, Guilherme; Lopes, Ana M.; Duarte, Diana B.; Soares, Ana Rita; Laranjeira, Francisco; Ribeiro, Isaura; Pinto, Eugenia; Rocha, Sonia; Gouveia, Sofia Barbosa; Vazquez Mosquera, Maria Eugenia; Oliveira, Maria Joao; Borges, Teresa; Cardoso, Maria Helena;
PUBLISHED: 2022, SOURCE: ACTA DIABETOLOGICA, VOLUME: 60, ISSUE: 1
AUTHORS: Monteiro, Silvia Santos; Santos, Tiago da Silva; Fonseca, Liliana; Assuncao, Guilherme; Lopes, Ana M.; Duarte, Diana B.; Soares, Ana Rita; Laranjeira, Francisco; Ribeiro, Isaura; Pinto, Eugenia; Rocha, Sonia; Gouveia, Sofia Barbosa; Vazquez Mosquera, Maria Eugenia; Oliveira, Maria Joao; Borges, Teresa; Cardoso, Maria Helena;
PUBLISHED: 2022, SOURCE: ACTA DIABETOLOGICA, VOLUME: 60, ISSUE: 1
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TITLE: Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience Full Text
AUTHORS: Quelhas, D ; Martins, E ; Azevedo, L ; Bandeira, A; Diogo, L; Garcia, P; Sequeira, S; Ferreira, AC; Teles, EL; Rodrigues, E; Fortuna, AM; Mendonca, C; Fernandes, HC; Medeira, A; Gaspar, A; Janeiro, P; Oliveira, A; Laranjeira, F ; Ribeiro, I; Souche, E; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF PEDIATRICS, VOLUME: 231
AUTHORS: Quelhas, D ; Martins, E ; Azevedo, L ; Bandeira, A; Diogo, L; Garcia, P; Sequeira, S; Ferreira, AC; Teles, EL; Rodrigues, E; Fortuna, AM; Mendonca, C; Fernandes, HC; Medeira, A; Gaspar, A; Janeiro, P; Oliveira, A; Laranjeira, F ; Ribeiro, I; Souche, E; ...More
PUBLISHED: 2021, SOURCE: JOURNAL OF PEDIATRICS, VOLUME: 231
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TITLE: NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient
AUTHORS: Encarnação, M; Coutinho, MF; Cho, SM; Cardoso, MT ; Ribeiro, I; Chaves, P ; Santos, JI; Quelhas, D; Lacerda, L; Leão Teles, E; Futerman, AH; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 8, ISSUE: 11
AUTHORS: Encarnação, M; Coutinho, MF; Cho, SM; Cardoso, MT ; Ribeiro, I; Chaves, P ; Santos, JI; Quelhas, D; Lacerda, L; Leão Teles, E; Futerman, AH; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: Molecular Genetics and Genomic Medicine, VOLUME: 8, ISSUE: 11
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TITLE: Assessing Niemann-Pick Type C (NP-C) through a multi-omics approach genomic and transcriptomic profile of challenging cases
AUTHORS: Marisa Encarnação; Maria F Coutinho; Soo M Cho; Maria T Cardoso; Paulo Chaves; Isaura Ribeiro; Juliana I Santos; Paulo Gaspar; Dulce Quelhas; Lúcia Lacerda; Elisa Leão Teles; Anthony H Futerman; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2019, SOURCE: 22nd ESGLD Workshop and Graduate Course, 9-13 October 2019
AUTHORS: Marisa Encarnação; Maria F Coutinho; Soo M Cho; Maria T Cardoso; Paulo Chaves; Isaura Ribeiro; Juliana I Santos; Paulo Gaspar; Dulce Quelhas; Lúcia Lacerda; Elisa Leão Teles; Anthony H Futerman; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2019, SOURCE: 22nd ESGLD Workshop and Graduate Course, 9-13 October 2019
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TITLE: Genomics and transcriptomics approach - diagnosis of a challenging case of Niemann-Pick type C (NP-C)
AUTHORS: Marisa Encarnação; Maria F Coutinho; Soo M Cho; Maria T Cardoso; Paulo Chaves; Paulo Gaspar; Juliana I Santos; Isaura Ribeiro; Dulce Quelhas; Lúcia Lacerda; Elisa Leão Teles; Anthony H Futerman; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2019, SOURCE: GenomePT Symposium - CIBIO-InBIO, 10 May 2019
AUTHORS: Marisa Encarnação; Maria F Coutinho; Soo M Cho; Maria T Cardoso; Paulo Chaves; Paulo Gaspar; Juliana I Santos; Isaura Ribeiro; Dulce Quelhas; Lúcia Lacerda; Elisa Leão Teles; Anthony H Futerman; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2019, SOURCE: GenomePT Symposium - CIBIO-InBIO, 10 May 2019
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TITLE: Transcriptomics profiling of Niemann-Pick type C patients: activation of the unfold protein response in a specific case
AUTHORS: Marisa Encarnação; Maria F Coutinho; Soo M Cho; Maria T Cardoso; Paulo Chaves; Paulo Gaspar; Juliana I Santos; Isaura Ribeiro; Dulce Quelhas; Lúcia Lacerda; Elisa Leão Teles; Anthony H Futerman; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2019, SOURCE: 15th International Symposium SPDM, Sociedade Portuguesa de Doenças Metabólicas, 14-16 mar 2019
AUTHORS: Marisa Encarnação; Maria F Coutinho; Soo M Cho; Maria T Cardoso; Paulo Chaves; Paulo Gaspar; Juliana I Santos; Isaura Ribeiro; Dulce Quelhas; Lúcia Lacerda; Elisa Leão Teles; Anthony H Futerman; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2019, SOURCE: 15th International Symposium SPDM, Sociedade Portuguesa de Doenças Metabólicas, 14-16 mar 2019
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TITLE: Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations
AUTHORS: Ouesleti, S; Coutinho, MF; Ribeiro, I; Miled, A; Mosbahi, DS; Alves, S;
PUBLISHED: 2017, SOURCE: WORLD JOURNAL OF PEDIATRICS, VOLUME: 13, ISSUE: 4
AUTHORS: Ouesleti, S; Coutinho, MF; Ribeiro, I; Miled, A; Mosbahi, DS; Alves, S;
PUBLISHED: 2017, SOURCE: WORLD JOURNAL OF PEDIATRICS, VOLUME: 13, ISSUE: 4
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TITLE: Beware of fabry disease diagnosis - insights from an atypical portuguese family Full Text
AUTHORS: Isaura Ribeiro; Elisabete Silva; Eugenia Pinto; Fernanda Pinto; Sonia Rocha; Celia Ferreira; Helena Ribeiro; Sandra Jacinto; Diana Antunes; Ana C Ferreira; Dulce Quelhas; Francisco Laranjeira; Carla Caseiro; Lucia Lacerda;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Isaura Ribeiro; Elisabete Silva; Eugenia Pinto; Fernanda Pinto; Sonia Rocha; Celia Ferreira; Helena Ribeiro; Sandra Jacinto; Diana Antunes; Ana C Ferreira; Dulce Quelhas; Francisco Laranjeira; Carla Caseiro; Lucia Lacerda;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
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TITLE: Mucopolysaccharidoses in Tunisia: a molecular portrait of allelic heterogeneity and consanguinity
AUTHORS: Maria F Coutinho; Souad Ouesleti; Isaura Ribeiro; A. Miled; D.S. Mosbahi; Sandra Alves;
PUBLISHED: 2015, SOURCE: 20th ESGLD Workshop - European Study Group on Lysosomal Diseases, 1-4 October 2015
AUTHORS: Maria F Coutinho; Souad Ouesleti; Isaura Ribeiro; A. Miled; D.S. Mosbahi; Sandra Alves;
PUBLISHED: 2015, SOURCE: 20th ESGLD Workshop - European Study Group on Lysosomal Diseases, 1-4 October 2015
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TITLE: Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations Full Text
AUTHORS: Morrone, A; Tylee, KL; Al Sayed, M; Brusius Facchin, AC; Caciotti, A; Church, HJ; Coll, MJ; Davidson, K; Fietz, MJ; Gort, L; Hegde, M; Kubaski, F; Lacerda, L; Laranjeira, F ; Leistner Segal, S; Mooney, S; Pajares, S; Pollard, L; Ribeiro, I; Wang, RY; ...More
PUBLISHED: 2014, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 112, ISSUE: 2
AUTHORS: Morrone, A; Tylee, KL; Al Sayed, M; Brusius Facchin, AC; Caciotti, A; Church, HJ; Coll, MJ; Davidson, K; Fietz, MJ; Gort, L; Hegde, M; Kubaski, F; Lacerda, L; Laranjeira, F ; Leistner Segal, S; Mooney, S; Pajares, S; Pollard, L; Ribeiro, I; Wang, RY; ...More
PUBLISHED: 2014, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 112, ISSUE: 2
