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Oncogene Proteins, Fusion
Proto-Oncogene Proteins p21(ras)
Proto-Oncogene Proteins c-sis
Proto-Oncogene Proteins c-akt
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
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.
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Mosaic: post-zygotic mutations in vascular malformations