Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Molecular Autism
Yeung, Kit San KS; Tso, Winnie Wan Yee WWY; Ip, Janice Jing Kun JJK; Mak, Christopher Chun Yu CCY; Leung, Gordon Ka Chun GKC; Tsang, Mandy Ho Yin MHY; Ying, Dingge D; Pei, Steven Lim Cho SLC; Lee, So Lun SL; Yang, Wanling W; Chung, Brian Hon-Yin BH
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget
Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM
A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome.
European Journal Of Human Genetics : Ejhg
Schwerd, Tobias T; Khaled, Andrea V AV; Schürmann, Manfred M; Chen, Hannah H; Händel, Norman N; Reis, André A; Gillessen-Kaesbach, Gabriele G; Uhlig, Holm H HH; Abou Jamra, Rami R
Publication Date: 2016-06
Variant appearance in text: PTEN: 545T>C; Leu182Ser