1. Yang, Haiyan, Liao, Hongmei, Gan, Siyi, Xiao, Ting, Wu, Liwen. 2022. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration. In Molecular genetics & genomic medicine, 10, e1967. doi:10.1002/mgg3.1967.
8. Marco, E J, Abidi, F E, Bristow, J, Schwartz, C E, Sherr, E H. 2009. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. In BMJ case reports, 2009, . doi:10.1136/bcr.06.2009.1999.
9. Tao, Meini, Li, Zhiqiang, Liu, Meng, Ma, Haiyu, Liu, Wujun. 2024. Association analysis of polymorphisms in SLK, ARHGEF9, WWC2, GAB3, and FSHR genes with reproductive traits in different sheep breeds. In Frontiers in genetics, 15, 1371872. doi:10.3389/fgene.2024.1371872.
10. Bhat, Gifty, LaGrave, Danielle, Millson, Alison, Lamb, Allen N, Matalon, Reuben. 2016. Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder. In European journal of medical genetics, 59, 470-3. doi:10.1016/j.ejmg.2016.05.014.
参考文献:
1. Yang, Haiyan, Liao, Hongmei, Gan, Siyi, Xiao, Ting, Wu, Liwen. 2022. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration. In Molecular genetics & genomic medicine, 10, e1967. doi:10.1002/mgg3.1967. https://pubmed.ncbi.nlm.nih.gov/35638461/
2. Adinolfi, Annalisa, Di Sante, Gabriele, Rivignani Vaccari, Luca, Sette, Claudio, Geloso, Maria Concetta. 2023. Regionally restricted modulation of Sam68 expression and Arhgef9 alternative splicing in the hippocampus of a murine model of multiple sclerosis. In Frontiers in molecular neuroscience, 15, 1073627. doi:10.3389/fnmol.2022.1073627. https://pubmed.ncbi.nlm.nih.gov/36710925/
3. Marco, E J, Abidi, F E, Bristow, J, Schwartz, C E, Sherr, E H. 2009. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. In BMJ case reports, 2009, . doi:10.1136/bcr.06.2009.1999. https://pubmed.ncbi.nlm.nih.gov/21731583/
4. Tao, Meini, Li, Zhiqiang, Liu, Meng, Ma, Haiyu, Liu, Wujun. 2024. Association analysis of polymorphisms in SLK, ARHGEF9, WWC2, GAB3, and FSHR genes with reproductive traits in different sheep breeds. In Frontiers in genetics, 15, 1371872. doi:10.3389/fgene.2024.1371872. https://pubmed.ncbi.nlm.nih.gov/38680425/
5. Bhat, Gifty, LaGrave, Danielle, Millson, Alison, Lamb, Allen N, Matalon, Reuben. 2016. Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder. In European journal of medical genetics, 59, 470-3. doi:10.1016/j.ejmg.2016.05.014. https://pubmed.ncbi.nlm.nih.gov/27238888/