William Dobyns to Phosphatidylinositol 3-Kinases
This is a "connection" page, showing publications William Dobyns has written about Phosphatidylinositol 3-Kinases.
Connection Strength
1.863
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Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):582-590.
Score: 0.654
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Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations. Int J Pediatr Otorhinolaryngol. 2021 Dec; 151:110869.
Score: 0.187
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Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum". Hum Mutat. 2016 Mar; 37(3):242-5.
Score: 0.127
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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 2015 Dec 03; 4.
Score: 0.126
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015 Dec; 14(12):1182-95.
Score: 0.125
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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain. 2015 Jun; 138(Pt 6):1613-28.
Score: 0.120
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Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr; 166(4):1048-54.e1-5.
Score: 0.119
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PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015 Feb; 167A(2):287-95.
Score: 0.118
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Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Am J Med Genet C Semin Med Genet. 2013 May; 163C(2):122-30.
Score: 0.105
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24; 44(8):934-40.
Score: 0.099
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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. Brain. 2022 04 29; 145(3):925-938.
Score: 0.049
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 03; 98(3):579-587.
Score: 0.032