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TITLE: Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies Full Text
AUTHORS: Jorge, P; Garcia, E; Goncalves, A ; Marques, I; Maia, N; Rodrigues, B; Santos, H; Fonseca, J ; Soares, G; Correia, C; Reis Lima, M; Cirigliano, V; Santos, R;
PUBLISHED: 2018, SOURCE: BMC MEDICAL GENETICS, VOLUME: 19, ISSUE: 1

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TITLE: Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events? Full Text
AUTHORS: Maia, N; Loureiro, JR; Oliveira, B; Marques, I; Santos, R; Jorge, P; Martins, S;
PUBLISHED: 2017, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 62, ISSUE: 2

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TITLE: Origin of normal-size FMR1 alleles without AGG interspersions Full Text
AUTHORS: Nuno Maia; Joana Loureiro; Barbara Oliveira; Isabel Marques; Rosario Santos; Sandra Martins; Paula Jorge;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10

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TITLE: Atrofias Musculares Espinhais: do estudo genético ao registo de doentes
AUTHORS: Jorge Oliveira; Luisa Rodrigues; Nuno Maia; Marcia E Oliveira; Rosário Santos;
PUBLISHED: 2011, SOURCE: 5º Congresso da Sociedade Portuguesa de Estudo de Doenças Neuromusculares, 26 Maio 2011

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