2 documents found, page 1 of 1
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectua...
Martins, Mariana; Oliveira, Ana Rafaela; Martins, Solange; Vieira, José Pedro; Perdigão, Pedro; Fernandes, Ana Rita; Almeida, Luís Pereira deDisruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In thi...
Rare structural variants in severe spermatogenic impairment
Seabra, Catarina MoraisA azoospermia afeta aproximadamente 15% de todos os homens inférteis e é frequentemente causada por anomalias cromossómicas e microdeleções do cromossoma Y. No entanto, em aproximadamente 70% dos casos de azoospermia não-obstrutiva (NOA) as causas permanecem por identificar. Nos últimos anos, a descoberta de variantes genómicas de número de cópia (CNVs), como as causadas por deleções, revelou uma fonte de varia...