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698 results
  • [Malformations of cortical development and epilepsy]. [Journal Article]
    Medicina (B Aires) 2019; 79 Suppl 3:37-41Buompadre MC
  • Around 15% of childhood epilepsies are resistant to antiepileptic drugs, 40% of which are caused by malformations of cortical development (MCD). The current classification scheme for MCD is based on the primary developmental steps of cell proliferation, neuronal migration, and cortical organization. Considering the clinic and molecular alterations, a classification based on main pathways disrupti…
  • De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. [Journal Article]
    Brain 2019Horn S, Au M, … Abou Jamra R
  • Using trio exome sequencing, we identified de novo heterozygous missense variants in PAK1 in four unrelated individuals with intellectual disability, macrocephaly and seizures. PAK1 encodes the p21-activated kinase, a major driver of neuronal development in humans and other organisms. In normal neurons, PAK1 dimers reside in a trans-inhibited conformation, where each autoinhibitory domain covers …
  • [Syndromes with vascular skin anomalies]. [Review]
    Hautarzt 2019; 70(7):474-480Happle R
  • CONCLUSIONS: A diagnostic difficulty lies in the fact that not all syndromes associated with capillary nevi have been elucidated at the molecular level. For this reason, the preliminary dimension of the present review should be borne in mind. On the other hand, dermatologists in practice now have the fascinating chance to stimulate further advances in this particular field of knowledge by asking experts in dermatology, pediatrics or medical genetics how to solve the problem of molecular syndrome recognition in a puzzling case.
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