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DataTítuloAutor(es)TipoAcesso
2005Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)Shi, Jinxiu; Shibayama, Akane; Liu, Qiang, et al.ArtigoAcesso aberto
5-Jul-2019Genomic imbalances defining novel intellectual disability associated lociLopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela, et al.ArtigoAcesso aberto
9-Fev-2016Identification of novel genetic causes of Rett syndrome-like phenotypesLopes, Fátima Daniela Teixeira; Barbosa, Mafalda Fernanda Cabral Santos; Soares, Gabriela, et al.ArtigoAcesso aberto
Jun-2007MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patientsCoutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile, et al.ArtigoAcesso restrito UMinho
30-Jul-2008Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation typeTemudo, Teresa; Ramos, Elisabete; Dias, Karin, et al.ArtigoAcesso restrito UMinho
Jan-2009Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patientsSantos, Mónica; Temudo, Teresa; Kay, Teresa, et al.ArtigoAcesso aberto
Jan-2011Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypesTemudo, Teresa; Santos, Mónica; Ramos, Elisabete, et al.ArtigoAcesso aberto
10-Nov-2015Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 geneVieira, José Pedro; Lopes, Fátima Daniela Teixeira; Fernandes, Anabela Silva, et al.ArtigoAcesso aberto