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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Oncogene Proteins, Fusion
Concept Proto-Oncogene Proteins p21(ras)
Concept Proto-Oncogene Proteins c-sis
Concept Proto-Oncogene Proteins c-akt
Academic Article Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
Academic Article Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
Academic Article De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Academic Article High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
Academic Article Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Academic Article PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Academic Article Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Academic Article Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Academic Article Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Academic Article Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Academic Article Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Academic Article Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Academic Article Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Grant Mosaic: post-zygotic mutations in vascular malformations
Search Criteria
  • Oncogenes