Repositório Científico do Instituto Nacional de Saúde >

Browsing by Author Santos, Rosário

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:   
Sort by: In order: Results/Page Authors/Record:
Showing results 11 to 30 of 45
< previous   next >
Issue DateTitleAuthor(s)
Jul-2011Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptomsDuarte, Sofia; Oliveira, Jorge; Santos, Rosário; Pereira, Pedro; Barroso, Cândida; Conceição, Isabel; Evangelista, Teresinha
Nov-2011Evaluating the influence of four variants detected in the FRAXA and FRAXE lociMarques, Isabel; Jorge, Paula; Loureiro, Joana; Santos, Rosário
12-Sep-2012Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific databaseOliveira, Jorge; Oliveira, Márcia E.; Kress, Wolfram; Taipa, Ricardo; Melo Pires, Manuel; Hilbert, Pascale; Baxter, Peter; Santos, Manuela; Buermans, Henk; den Dunnen, Johan; Santos, Rosário
2011Expanding the mutation spectrum of the MTM1 gene: the first multi-exonic duplication and establishment of the MTM1 locus-specific databaseOliveira, Jorge; Oliveira, Márcia E.; Brekelmans, Roel; Melo-Pires, Manuel; Guimarães, António; den Dunnen, Johan; Santos, Manuela; Santos, Rosário
Sep-2011FMR1 premutations may be associated with a wider spectrum of phenotypesSeixas, Ana; Vale, José; Martins, Márcia; Loureiro, Joana; Jorge, Paula; Maques, Isabel; Santos, Rosário; Coutinho, Paula; Margolis, Russell; Sequeiros, Jorge; Silveira, Isabel
10-May-2012Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypesLoureiro, Joana; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, Isabel
23-May-2012Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypesLoureiro, Joana; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, Isabel
Dec-2010Fragile X Mental Retardation Protein: broadening the possibilities for studying Fragile X SyndromeOliveira, Bárbara; Marques, Isabel; Loureiro, Joana; Santos, Rosário; Jorge, Paula
Dec-2010Fragile X Syndrome: Genetic BackgroudsLoureiro, Joana; Marques, Isabel; Oliveira, Bárbara; Amorim, António; Santos, Rosário; Jorge, Paula
22-Nov-2012Fragile X syndrome: intergenerational allele instability and associated phenotypes in familiesJoana, Loureiro; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, Isabel
6-Nov-2012FRAXE molecular diagnosis in individuals referred for FRAXA screeningAli, Javed; Ali, G.; Caicedo, Lina; Marques, Isabel; Santos, Rosário; Jorge, Paula
22-Nov-2012FRAXE molecular diagnosis in individuals referred for FRAXA screeningJaved, Ali; G., Ali; Caicedo, Lina; Marques, Isabel; Santos, Rosário; Jorge, Paula
23-Jun-2012Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange SyndromePinto da Costa, Eurico; Oliveira, Jorge; Silva, João; Santos, Rosário
Jun-2011FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesSeixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; Pinto-Basto, Jorge; Coutinho, Paula; Margolis, Russell; Sequeiros, Jorge; Silveira, Isabel
2011Migration of an ancestral dysferlin splicing mutation from the Iberian peninsula to South AmericaVernengo, Luis; Oliveira, Jorge; Krahn, Martin; Vieira, Emília; Santos, Rosário; Carraso, Luisa; Negrão, Luis; Panuncio, Ana; Leturcq, France; Labelle, Veronique; Bronze-da-Rocha, Elsa; Mesa, Rosario; Pizzarossa, Carlos; Lévy, Nicolas; Rodrigues, Maria-Mirta
Sep-2011Molecular profile of 307 Portuguese patients with dystrophinopathy, including thirty-nine new variantsGonçalves, Ana Rita; Santos, Rosário; Vieira, Emília; Vieira, José Pedro; Fineza, Isabel; Moreno, Teresa; Santos, Manuela; Bronze-da-Rocha, Elsa
Sep-2011A multiplex assay for X-linked intellectual disability assessmentJorge, Paula; Marques, Isabel; Oliveira, Bárbara; Santos, Rosário
Nov-2011Mutações no gene ARX e associação ao défice mental ligado ao XAmado, Marta; Marques, Isabel; Jorge, Paula; Santos, Rosário; Monteiro, José Paulo; Marçal-Delgado, Cristina
May-2011New Approaches in the Molecular Diagnosis and Population Carrier Screening for Spinal Muscular AtrophyGonçalves-Rocha, Miguel; Oliveira, Jorge; Rodrigues, Luísa; Santos, Rosário
Mar-2012Nova abordagem no diagnóstico diferencial de doentes Portugueses com LGMD2A (ou Calpainopatia)Oliveira, Márcia E.; Maia, Nuno; Vieira, Emília; Evangelista, Teresinha; Melo Pires, Manuel; Peixoto Silveira, Fernando; Santos, Rosário
Showing results 11 to 30 of 45
< previous   next >

 

  © 2010 www.insa.pt - Todos os direitos reservados | Feedback Ministério da Saúde

Estamos no RCAAP Governo Português separator Ministério da Educação e Ciência  Fundação para a Ciência e a Tecnologia

Financiado por:

POS_C UE