William Dobyns to Class I Phosphatidylinositol 3-Kinases
This is a "connection" page, showing publications William Dobyns has written about Class I Phosphatidylinositol 3-Kinases.
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0.560
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Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations. JCI Insight. 2019 11 01; 4(21).
Score: 0.177
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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016 06 16; 1(9).
Score: 0.140
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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: 0.053
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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: 0.034
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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 2015 Dec 03; 4.
Score: 0.034
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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: 0.032
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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: 0.032
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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: 0.032
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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: 0.027