Publications by authors named "Joana Sanchez"

Article Synopsis
  • - The study investigates the role of the ZDHHC15 gene in autism spectrum disorder (ASD) within a family that has multiple members diagnosed with the condition and a specific 1.7 Mb deletion on the X chromosome.
  • - The three family members with ASD exhibited normal cognitive abilities but had an abnormal sensory profile, and the affected individuals were found to carry a deletion involving ZDHHC15 and other nearby genes.
  • - The findings indicate that ZDHHC15 could be a potential candidate gene for ASD and may be linked to other neurodevelopmental disorders, exhibiting characteristics like incomplete penetrance and variable expressivity.
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Terrestrial impact structures are geological and geomorphological features with particular importance to understand the history and evolution of the planet. Impact structures are scattered around the world but in many countries these features are under threat, essentially due to anthropic factors. Impact structures with higher scientific value should be considered as geological heritage and, consequently, be subjected to geoconservation strategies.

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