Paula Maria Vieira Jorge
AuthID: R-002-5HV
31
TITLE: Fragile X Syndrome: Genetic Backgrouds
AUTHORS: Joana Loureiro; Isabel Marques; Bárbara Oliveira; Amorim, Antonio; Rosário Santos; Paula Jorge;
PUBLISHED: 2010, SOURCE: XVII Congresso Nacional de Bioquímica, 15-17 Dezembro 2010
AUTHORS: Joana Loureiro; Isabel Marques; Bárbara Oliveira; Amorim, Antonio; Rosário Santos; Paula Jorge;
PUBLISHED: 2010, SOURCE: XVII Congresso Nacional de Bioquímica, 15-17 Dezembro 2010
INDEXED IN: 
Handle
Handle32
TITLE: Fragile X Mental Retardation Protein: broadening the possibilities for studying Fragile X Syndrome
AUTHORS: Bárbara Oliveira; Isabel Marques; Joana Loureiro; Rosário Santos; Paula Jorge;
PUBLISHED: 2010, SOURCE: XVII Congresso Nacional de Bioquímica, 15-17 Dezembro 2010
AUTHORS: Bárbara Oliveira; Isabel Marques; Joana Loureiro; Rosário Santos; Paula Jorge;
PUBLISHED: 2010, SOURCE: XVII Congresso Nacional de Bioquímica, 15-17 Dezembro 2010
INDEXED IN: Handle
Handle33
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
34
TITLE: The ABCA4 2588G > Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean Michael Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D’urso; Roser Gonzalez Duarte; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean Michael Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D’urso; Roser Gonzalez Duarte; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID35
TITLE: The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
AUTHORS: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; ...More
PUBLISHED: 2002, SOURCE: European Journal of Human Genetics, VOLUME: 10, ISSUE: 3
36
TITLE: Adrenoleucodistrofia ligada ao cromossoma X : Estudos bioquímicos e moleculares
AUTHORS: Paula M V Jorge;
PUBLISHED: 2000
AUTHORS: Paula M V Jorge;
PUBLISHED: 2000
INDEXED IN: Handle
Handle37
TITLE: Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts
AUTHORS: Cartier, N; Lopez, J; Moullier, P; Rocchiccioli, F; Rolland, MO; Jorge, P; Mosser, J; Mandel, JL; Bougneres, PF; Danos, O; Aubourg, P;
PUBLISHED: 1995, SOURCE: Proceedings of the National Academy of Sciences of the United States of America, VOLUME: 92, ISSUE: 5
AUTHORS: Cartier, N; Lopez, J; Moullier, P; Rocchiccioli, F; Rolland, MO; Jorge, P; Mosser, J; Mandel, JL; Bougneres, PF; Danos, O; Aubourg, P;
PUBLISHED: 1995, SOURCE: Proceedings of the National Academy of Sciences of the United States of America, VOLUME: 92, ISSUE: 5
38
TITLE: Characterization of X-linked adrenoleukodystrophy in different biological specimens from ten Portuguese families
AUTHORS: Jorge, P; Quelhas, D; Nogueira, A;
PUBLISHED: 1993, SOURCE: Journal of Inherited Metabolic Disease - J Inherit Metab Dis, VOLUME: 16, ISSUE: 1
AUTHORS: Jorge, P; Quelhas, D; Nogueira, A;
PUBLISHED: 1993, SOURCE: Journal of Inherited Metabolic Disease - J Inherit Metab Dis, VOLUME: 16, ISSUE: 1
39
TITLE: X-linked adrenoleukodystrophy and haemophilia A in the same kindred
AUTHORS: Nogueira, A; Jorge, P; Dores, J; Cunha, M; Sousa, S; Pereira, I; Campos, M; Justica, B; Quelhas, D; S� S Miranda;
PUBLISHED: 1993, SOURCE: Journal of Inherited Metabolic Disease - J Inherit Metab Dis, VOLUME: 16, ISSUE: 3
AUTHORS: Nogueira, A; Jorge, P; Dores, J; Cunha, M; Sousa, S; Pereira, I; Campos, M; Justica, B; Quelhas, D; S� S Miranda;
PUBLISHED: 1993, SOURCE: Journal of Inherited Metabolic Disease - J Inherit Metab Dis, VOLUME: 16, ISSUE: 3
