Project/scholarship details

  • Funder

    FCT - Fundação para a Ciência e a Tecnologia, I.P.

  • Funder's country

    Portugal

  • Funding program

    5876-PPCDTI

  • Funding amount

    176,000.00 €

  • Start date

    2009-01-01

  • End date

    2012-12-31

Documents

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Recurrent copy number variations as risk factors for neurodevelopmental disorde...

Torres, Fátima; Barbosa, Mafalda Fernanda Cabral Santos; Maciel, P.

Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, in...

Date: 2016   |   Origin: RepositóriUM - Universidade do Minho
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Whole gene deletion of EBF3 supporting haploinsufficiency of this gene as a mec...

Lopes, Fátima Daniela Teixeira; Soares, Gabriela; Rocha, Miguel Gonçalves; Basto, Jorge Pinto; Maciel, P.

Mutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the litera...

Date: 2017   |   Origin: RepositóriUM - Universidade do Minho
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The role of AKT3 copy number changes in brain abnormalities and neurodevelopmen...

Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela; Karnebeek, Clara D. van; Martins, Cecília; Antunes, Diana; Silva, João

Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involv...

Date: 2019   |   Origin: RepositóriUM - Universidade do Minho
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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

High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 3...

Date: 2019   |   Origin: RepositóriUM - Universidade do Minho
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