Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Jorge Diogo Da Silva"'
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100781- (2023)
Purpose: Ellis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified, EVC and EVC2, showing that several cases were misdia
Externí odkaz:
https://doaj.org/article/ab20495f31eb49149c71d2a2b6b396f8
Autor:
Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Ana Maria Fortuna, Dezso David
Publikováno v:
Biomedicines, Vol 11, Iss 1, p 12 (2022)
The genetic complexity of neurodevelopmental disorders (NDD), combined with a heterogeneous clinical presentation, makes accurate assessment of their molecular bases and pathogenic mechanisms challenging. Our purpose is to reveal the pathogenic varia
Externí odkaz:
https://doaj.org/article/8bbe1e18206e44ee8ed510f6cbda8464
Autor:
Jorge Diogo Da Silva, Marta Daniela Costa, Bruno Almeida, Fátima Lopes, Patrícia Maciel, Andreia Teixeira-Castro
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Diseases of neurodevelopment mostly exhibit neurological and psychiatric symptoms that go from very mild to extremely severe. While the etiology of most cases of neurodevelopmental disease is still unknown, the discovery of underlying genetic causes
Externí odkaz:
https://doaj.org/article/ab1d607beda04874b6ef36792337cd79
Autor:
Jorge Diogo Da Silva, Diana Gonzaga, Ana Barreta, Hildeberto Correia, Ana Maria Fortuna, Ana Rita Soares, Nataliya Tkachenko
Publikováno v:
Biomedicines, Vol 10, Iss 12, p 3078 (2022)
The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific phenotypes, i
Externí odkaz:
https://doaj.org/article/a8e47c6dc5bd430584c8a61275965039
Autor:
Ana Jalles, Cármen Vieira, Joana Pereira-Sousa, Daniela Vilasboas-Campos, Ana Francisca Mota, Sara Vasconcelos, Bruna Ferreira-Lomba, Marta Daniela Costa, Jorge Diogo Da Silva, Patrícia Maciel, Andreia Teixeira-Castro
Publikováno v:
Biomedicines, Vol 10, Iss 2, p 370 (2022)
The atypical antipsychotic aripiprazole is a Food and Drug Administration-approved drug for the treatment of psychotic, mood, and other psychiatric disorders. Previous drug discovery efforts pinpointed aripiprazole as an effective suppressor of Macha
Externí odkaz:
https://doaj.org/article/f6e23b6b85274c3199657c8a1a04dc7d
Autor:
Ângela Pereira, Nataliya Tkachenko, Ana Maria Fortuna, Isabel Alonso, Márcio Cardoso, Jorge Diogo Da Silva
Publikováno v:
Neurological Sciences.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7572fefd8a5a50d94bed0a3428268135
https://doi.org/10.1007/s10072-023-06867-w
https://doi.org/10.1007/s10072-023-06867-w
Publikováno v:
Journal of community genetics.
The already increasing use of telemedicine in the last few years has risen significantly after the onset of the COVID-19 pandemic. With a fast implementation, it is important to understand the experience of genetic counselling patients using teleheal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34448c06f7a37f8f37bed3b97fe08fe4
https://pubmed.ncbi.nlm.nih.gov/36414926
https://pubmed.ncbi.nlm.nih.gov/36414926
Autor:
Jorge Diogo Da Silva, Claudia Antunes, N.D. Alves, Eduardo Loureiro-Campos, Miguel R. Branco, C. Joana Marques, Sónia Guerra-Gomes, Luísa Pinto, Fábio Ferreira, Nuno Sousa, Wolf Reik
Publikováno v:
Molecular Psychiatry. 26:1445-1457
TET3 is a member of the ten-eleven translocation (TET) family of enzymes which oxidize 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC). Tet3 is highly expressed in the brain, where 5hmC levels are most abundant. In adult mice, we observed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::848c783a986a68fa2fd40151d77879af
https://doi.org/10.1038/s41380-020-0695-7
https://doi.org/10.1038/s41380-020-0695-7
Autor:
Marta Daniela Costa, Andreia Teixeira-Castro, Stéphanie Oliveira, Patrícia Maciel, Jorge Diogo Da Silva, Joana Pereira-Sousa
Publikováno v:
Molecular Neurobiology. 57:1553-1569
The connectome of Caenorhabditis elegans has been extensively studied and fully mapped, allowing researchers to more confidently conclude on the impact of any change in neuronal circuits based on behavioral data. One of the more complex sensorimotor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::141fd6f87e9bec3c3485a27c86b94639
https://doi.org/10.1007/s12035-019-01833-0
https://doi.org/10.1007/s12035-019-01833-0