List of publications
Clinical and Genetic study of X-linked mental retardation (XLMR) in Portugal: validation of a gene panel for diagnosis
The current list of publications was generated automatically by the RCAAP portal on 2024-04-29. This list contains all the publications deposited in the repositories from the RCAAP network repositories to which was attributed the funding identifier: info:eu-repo/grantAgreement/FCT/5876-PPCDTI/83013.
This list is not updated automatically and refers only to the contents identified until the date of its generation. To fulfil with the obligations associated with the open rightsAccess policies from Fundação para a Ciência e a Tecnologia, please mention this link in the scientific reports required by this funding agency.
Project/scholarship information
| Name of project/scholarship | Clinical and Genetic study of X-linked mental retardation (XLMR) in Portugal: validation of a gene panel for diagnosis |
| Funder | FCT - Fundação para a Ciência e a Tecnologia, I.P. |
| Funding program | 5876-PPCDTI |
| Project/scholarship ID | 83013 |
| Reference | PIC/IC/83013/2007 |
| FundRef URI | http://www.fct.pt/apoios/projectos/consulta/vglobal_projecto.phtml.en?idProjecto=83013&idElemConcurso=4032 |
| Start date | 2009-01-01 |
| End date | 2012-12-31 |
| Funding amount | 170,000.00 € |
Report information
Documents
| Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications | Torres, Fátima; Barbosa, Mafalda Fernanda Cabral Santos; Maciel, P. | Open Access | Journal article | 2016 | rum | http://hdl.handle.net/1822/45011 |
| 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. | Open Access | Journal article | 2019 | rum | http://hdl.handle.net/1822/62351 |
| Whole gene deletion of EBF3 supporting haploinsufficiency of this gene as a mechanism of neurodevelopmental disease | Lopes, Fátima Daniela Teixeira; Soares, Gabriela; Rocha, Miguel Gonçalves; Basto, Jorge Pinto; Maciel, P. | Open Access | Journal article | 2017 | rum | http://hdl.handle.net/1822/51512 |
| 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. | Open Access | Journal article | 2019 | rum | http://hdl.handle.net/1822/62353 |
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