Identification of novel genetic causes of Rett syndrome-like phenotypes
Lopes, Fátima, Barbosa, Mafalda, Ameur, Adam, Soares, Gabriela, de Sá, Joaquim, Dias, Ana Isabel, Oliveira, Guiomar, Cabral, Pedro, Temudo, Teresa, Calado, Eulália, Cruz, Isabel Fineza, Vieira, José Pedro, Oliveira, Renata, Esteves, Sofia, Sauer, Sascha, Jonasson, Inger, Syvänen, Ann-Christine, Gyllensten, Ulf, Pinto, Dalila, Maciel, Patrícia
Published in Journal of medical genetics (01.03.2016)
Published in Journal of medical genetics (01.03.2016)
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Journal Article
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
Jobling, Rebekah, Stavropoulos, Dimitri James, Marshall, Christian R, Cytrynbaum, Cheryl, Axford, Michelle M, Londero, Vanessa, Moalem, Sharon, Orr, Jennifer, Rossignol, Francis, Lopes, Fatima Daniela, Gauthier, Julie, Alos, Nathalie, Rupps, Rosemarie, McKinnon, Margaret, Adam, Shelin, Nowaczyk, Malgorzata J M, Walker, Susan, Scherer, Stephen W, Nassif, Christina, Hamdan, Fadi F, Deal, Cheri L, Soucy, Jean-François, Weksberg, Rosanna, Macleod, Patrick, Michaud, Jacques L, Chitayat, David
Published in Journal of medical genetics (01.05.2018)
Published in Journal of medical genetics (01.05.2018)
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Journal Article
Refining the phenotype associated with biallelic DNAJC21 mutations
D'Amours, G., Lopes, Fátima Daniela Teixeira, Gauthier, J., Saillour, V., Nassif, C., Wynn, R., Alos, N., Leblanc, T., Capri, Y., Nizard, S., Lemyre, E., Michaud, J. L., Pelletier, V-A, Pastore, Y. D., Soucy, J-F
Published in Clinical genetics (01.08.2018)
Published in Clinical genetics (01.08.2018)
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Journal Article
Redefining the MED13L syndrome
Adegbola, Abidemi, Musante, Luciana, Callewaert, Bert, Maciel, Patricia, Hu, Hao, Isidor, Bertrand, Picker-Minh, Sylvie, Le Caignec, Cedric, Delle Chiaie, Barbara, Vanakker, Olivier, Menten, Björn, Dheedene, Annelies, Bockaert, Nele, Roelens, Filip, Decaestecker, Karin, Silva, João, Soares, Gabriela, Lopes, Fátima, Najmabadi, Hossein, Kahrizi, Kimia, Cox, Gerald F, Angus, Steven P, Staropoli, John F, Fischer, Ute, Suckow, Vanessa, Bartsch, Oliver, Chess, Andrew, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Kaindl, Angela M, Kalscheuer, Vera M
Published in European journal of human genetics : EJHG (01.10.2015)
Published in European journal of human genetics : EJHG (01.10.2015)
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Journal Article
MYOD1 involvement in myopathy
Lopes, Fátima Daniela Teixeira, Miguet, M., Mucha, B. E., Gauthier, J., Saillour, V., Nguyen, C.-T. É., Vanasse, M., Ellezam, B., Michaud, J. L., Soucy, J.-F., Campeau, P. M.
Published in European journal of neurology (01.12.2018)
Published in European journal of neurology (01.12.2018)
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Journal Article
The contribution of 7q33 copy number variations for intellectual disability
Lopes, Fátima Daniela Teixeira, Torres, Fátima, Lynch, Sally Ann, Jorge, Arminda, Sousa, Susana, Silva, João, Rendeiro, Paula, Tavares, Purificação, Fortuna, Ana Maria, Maciel, P.
Published in Neurogenetics (01.01.2018)
Published in Neurogenetics (01.01.2018)
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Journal Article
The role of AKT3 copy number changes in brain abnormalities and neurodevelopmental disorders: four new cases and literature review
Lopes, Fátima Daniela Teixeira, Torres, Fátima, Soares, Gabriela, Karnebeek, Clara D. van, Martins, Cecília, Antunes, Diana, Silva, João, Muttucomaroe, Lauren, Botelho, Luís Filipe, Sousa, Susana, Rendeiro, Paula, Tavares, Purificação, Van Esch, Hilde, Rajcan-Separovic, Evica, Maciel, P.
Published in Frontiers in genetics (22.02.2019)
Published in Frontiers in genetics (22.02.2019)
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Journal Article
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima Daniela Teixeira, Torres, Fátima, Soares, Gabriela, Barbosa, Mafalda, Silva, João, Duque, Frederico, Rocha, Miguel, Sá, Joaquim, Oliveira, Guiomar, Sá, Maria João, Temudo, Teresa, Sousa, Susana, Marques, Carla, Lopes, Sofia, Gomes, Catarina, Barros, Gisela, Jorge, Arminda, Rocha, Felisbela, Martins, Cecília, Mesquita, Sandra, Loureiro, Susana, Cardoso, Elisa Maria, Cálix, Maria José, Dias, Andreia, Martins, Cristina, Mota, Céu R., Antunes, Diana, Dupont, Juliette, Figueiredo, Sara, Figueiroa, Sónia, Gama-de-Sousa, Susana, Cruz, Sara, Sampaio, Adriana, Eijk, Paul, Weiss, Marjan M., Ylstra, Bauke, Rendeiro, Paula, Tavares, Purificação, Reis-Lima, Margarida, Pinto-Basto, Jorge, Fortuna, Ana Maria, Maciel, P.
Published in Orphanet journal of rare diseases (05.07.2019)
Published in Orphanet journal of rare diseases (05.07.2019)
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