日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A Pooled Genome-Wide Association Study of Asperger Syndrome

阿斯伯格综合征的汇总全基因组关联研究

Warrier, Varun; Chakrabarti, Bhismadev; Murphy, Laura; Chan, Allen; Craig, Ian; Mallya, Uma; Lakatošová, Silvia; Rehnstrom, Karola; Peltonen, Leena; Wheelwright, Sally; Allison, Carrie; Fisher, Simon E; Baron-Cohen, Simon

A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study

一项全基因组关联研究发现,数学能力与3q29染色体上的一个位点存在关联,该位点与自闭症和学习障碍相关:一项初步研究

Baron-Cohen, Simon; Murphy, Laura; Chakrabarti, Bhismadev; Craig, Ian; Mallya, Uma; Lakatošová, Silvia; Rehnstrom, Karola; Peltonen, Leena; Wheelwright, Sally; Allison, Carrie; Fisher, Simon E; Warrier, Varun

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

编码泛素E3连接酶亚基的CUL4B基因突变会导致一种X连锁智力低下综合征,该综合征伴有攻击性爆发、癫痫发作、相对性巨头畸形、中心性肥胖、性腺功能减退、高弓足和震颤。

Tarpey, Patrick S; Raymond, F Lucy; O'Meara, Sarah; Edkins, Sarah; Teague, Jon; Butler, Adam; Dicks, Ed; Stevens, Claire; Tofts, Calli; Avis, Tim; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Gray, Kristian; Halliday, Kelly; Harrison, Rachel; Hills, Katy; Jenkinson, Andrew; Jones, David; Menzies, Andrew; Mironenko, Tatiana; Perry, Janet; Raine, Keiran; Richardson, David; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; West, Sofie; Widaa, Sara; Mallya, Uma; Moon, Jenny; Luo, Ying; Holder, Susan; Smithson, Sarah F; Hurst, Jane A; Clayton-Smith, Jill; Kerr, Bronwyn; Boyle, Jackie; Shaw, Marie; Vandeleur, Lucianne; Rodriguez, Jayson; Slaugh, Rachel; Easton, Douglas F; Wooster, Richard; Bobrow, Martin; Srivastava, Anand K; Stevenson, Roger E; Schwartz, Charles E; Turner, Gillian; Gecz, Jozef; Futreal, P Andrew; Stratton, Michael R; Partington, Michael

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

ZDHHC9基因的突变(该基因编码NRAS和HRAS的棕榈酰转移酶)会导致X连锁智力低下,并伴有马凡氏体征。

Raymond, F Lucy; Tarpey, Patrick S; Edkins, Sarah; Tofts, Calli; O'Meara, Sarah; Teague, Jon; Butler, Adam; Stevens, Claire; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dicks, Ed; Gray, Kristian; Halliday, Kelly; Hills, Katy; Hinton, Jonathon; Jones, David; Menzies, Andrew; Perry, Janet; Raine, Keiran; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; Widaa, Sara; Mallya, Uma; Moon, Jenny; Luo, Ying; Shaw, Marie; Boyle, Jackie; Kerr, Bronwyn; Turner, Gillian; Quarrell, Oliver; Cole, Trevor; Easton, Douglas F; Wooster, Richard; Bobrow, Martin; Schwartz, Charles E; Gecz, Jozef; Stratton, Michael R; Futreal, P Andrew

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

BRWD3基因突变会导致X连锁智力低下,并伴有巨头畸形

Field, Michael; Tarpey, Patrick S; Smith, Raffaella; Edkins, Sarah; O'Meara, Sarah; Stevens, Claire; Tofts, Calli; Teague, Jon; Butler, Adam; Dicks, Ed; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Gray, Kristian; Halliday, Kelly; Hills, Katy; Jenkinson, Andrew; Jones, David; Menzies, Andrew; Mironenko, Tatiana; Perry, Janet; Raine, Keiran; Richardson, David; Shepherd, Rebecca; Small, Alexandra; Varian, Jennifer; West, Sofie; Widaa, Sara; Mallya, Uma; Wooster, Richard; Moon, Jenny; Luo, Ying; Hughes, Helen; Shaw, Marie; Friend, Kathryn L; Corbett, Mark; Turner, Gillian; Partington, Michael; Mulley, John; Bobrow, Martin; Schwartz, Charles; Stevenson, Roger; Gecz, Jozef; Stratton, Michael R; Futreal, P Andrew; Raymond, F Lucy

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

编码衔接蛋白 1 复合物 Sigma 2 亚基的基因 AP1S2 发生突变,会导致 X 连锁智力低下

Tarpey Patrick S, Stevens Claire, Teague Jon, Edkins Sarah, O'Meara Sarah, Avis Tim, Barthorpe Syd, Buck Gemma, Butler Adam, Cole Jennifer, Dicks Ed, Gray Kristian, Halliday Kelly, Harrison Rachel, Hills Katy, Hinton Jonathon, Jones David, Menzies Andrew, Mironenko Tatiana, Perry Janet, Raine Keiran, Richardson David, Shepherd Rebecca, Small Alexandra, Tofts Calli, Varian Jennifer, West Sofie, Widaa Sara, Yates Andy, Catford Rachael, Butler Julia, Mallya Uma, Moon Jenny, Luo Ying, Dorkins Huw, Thompson Deborah, Easton Douglas F, Wooster Richard, Bobrow Martin, Carpenter Nancy, Simensen Richard J, Schwartz Charles E, Stevenson Roger E, Turner Gillian, Partington Michael, Gecz Jozef, Stratton Michael R, Futreal P Andrew, Raymond F Lucy