These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
11. Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway. Yan W; Zhang B; Wang H; Mo R; Jiang X; Qin W; Ma L; Lin Z Hereditas; 2021 Jun; 158(1):18. PubMed ID: 34074347 [TBL] [Abstract][Full Text] [Related]
12. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. Negishi Y; Miya F; Hattori A; Johmura Y; Nakagawa M; Ando N; Hori I; Togawa T; Aoyama K; Ohashi K; Fukumura S; Mizuno S; Umemura A; Kishimoto Y; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Nakanishi M; Saitoh S BMC Med Genet; 2017 Jan; 18(1):4. PubMed ID: 28086757 [TBL] [Abstract][Full Text] [Related]
13. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Mirzaa GM; Rivière JB; Dobyns WB Am J Med Genet C Semin Med Genet; 2013 May; 163C(2):122-30. PubMed ID: 23592320 [TBL] [Abstract][Full Text] [Related]
14. Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors. Sasaki Y; Ishikawa K; Hatanaka KC; Oyamada Y; Sakuhara Y; Shimizu T; Saito T; Murao N; Onodera T; Miura T; Maeda T; Funayama E; Hatanaka Y; Yamamoto Y; Sasaki S Orphanet J Rare Dis; 2023 Sep; 18(1):270. PubMed ID: 37667289 [TBL] [Abstract][Full Text] [Related]