Paula Maria Vieira Jorge
AuthID: R-002-5HV
21
TITLE: FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes Full Text
AUTHORS: Seixas, AI; Vale, J; Jorge, P; Marques, I; Santos, R; Alonso, I ; Fortuna, AM; Pinto Basto, J; Coutinho, P ; Margolis, RL; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2011, SOURCE: BEHAVIORAL AND BRAIN FUNCTIONS, VOLUME: 7, ISSUE: 1
AUTHORS: Seixas, AI; Vale, J; Jorge, P; Marques, I; Santos, R; Alonso, I ; Fortuna, AM; Pinto Basto, J; Coutinho, P ; Margolis, RL; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2011, SOURCE: BEHAVIORAL AND BRAIN FUNCTIONS, VOLUME: 7, ISSUE: 1
22
TITLE: Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese
AUTHORS: Célia Nogueira; Rui Vaz Osório; Rosário Santos; Paula Jorge;
PUBLISHED: 2011
AUTHORS: Célia Nogueira; Rui Vaz Osório; Rosário Santos; Paula Jorge;
PUBLISHED: 2011
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Handle
Handle23
TITLE: A multiplex assay for X-linked intellectual disability assessment
AUTHORS: Paula Jorge; Isabel Marques; Bárbara Oliveira; Rosário Santos;
PUBLISHED: 2011, SOURCE: 15th International Workshop on Fragile X and Other Early-Onset Cognitive Disorders, 4-7 September 2011
AUTHORS: Paula Jorge; Isabel Marques; Bárbara Oliveira; Rosário Santos;
PUBLISHED: 2011, SOURCE: 15th International Workshop on Fragile X and Other Early-Onset Cognitive Disorders, 4-7 September 2011
INDEXED IN: Handle
Handle24
TITLE: Evaluating the influence of four variants detected in the FRAXA and FRAXE loci
AUTHORS: Isabel Marques; Paula Jorge; Joana Loureiro; Rosário Santos;
PUBLISHED: 2011, SOURCE: 15ª Reunião Anual da SPGH, 10-12 Novembro 2011
AUTHORS: Isabel Marques; Paula Jorge; Joana Loureiro; Rosário Santos;
PUBLISHED: 2011, SOURCE: 15ª Reunião Anual da SPGH, 10-12 Novembro 2011
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Handle25
TITLE: Mutações no gene ARX e associação ao défice mental ligado ao X
AUTHORS: Marta Amado; Isabel Marques; Paula Jorge; Rosário Santos; José P Monteiro; Cristina Marçal Delgado;
PUBLISHED: 2011, SOURCE: 18ª Jornadas de Pediatria, 23-26 Novembro 2011
AUTHORS: Marta Amado; Isabel Marques; Paula Jorge; Rosário Santos; José P Monteiro; Cristina Marçal Delgado;
PUBLISHED: 2011, SOURCE: 18ª Jornadas de Pediatria, 23-26 Novembro 2011
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Handle26
TITLE: Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening
AUTHORS: Sílvia Pires; António J Nogueira; Odília Pinho; Tiago Delgado; Mário Sousa; Rosário Santos; Paula Jorge;
PUBLISHED: 2011, SOURCE: Twin Research and Human Genetics
AUTHORS: Sílvia Pires; António J Nogueira; Odília Pinho; Tiago Delgado; Mário Sousa; Rosário Santos; Paula Jorge;
PUBLISHED: 2011, SOURCE: Twin Research and Human Genetics
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Handle27
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
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Handle28
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
Handle29
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
30
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: 
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