共 115 条
[1]
Woods CG(2013)Investigating microcephaly Arch Dis Child 98 707-713
[2]
Parker A(1959)Microcephaly in the Netherlands: a clinical and genetical study Ann Hum Genet 23 91-116
[3]
Van Den Bosch J(2007)Tel2 regulates the stability of PI3K-related protein kinases Cell. 131 1248-1259
[4]
Takai H(2007)Tel2: a common partner of PIK-related kinases and a link between DNA checkpoint and nutritional response? Genes Cells 12 1301-1304
[5]
Wang RC(2018)Branching the Tel2 pathway for exact fit on phosphatidylinositol 3-kinase-related kinases Current Genetics 64 965-970
[6]
Takai KK(2013)Mutation in TTI2 reveals a role for triple T complex in human brain development Hum Mutat 34 1472-1476
[7]
Yang H(2011)Deep sequencing reveals 50 novel genes for recessive cognitive disorders Nature. 478 57-63
[8]
de Lange T(2019)Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability Clin Genet 96 354-358
[9]
Kanoh J(2019)Novel compound heterozygous mutations in TTI2 cause Syndromic intellectual disability in a Chinese family Front Genet 10 1060-817
[10]
Yanagida M(2017)ATM, ATR, and DNA-PK: the trinity at the heart of the DNA damage response Mol Cell 66 801-864