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

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

层粘蛋白B1和层粘蛋白B2的杂合变异会导致原发性小头畸形,并定义了一种新的层粘蛋白病。

Parry, David A; Martin, Carol-Anne; Greene, Philip; Marsh, Joseph A; Blyth, Moira; Cox, Helen; Donnelly, Deirdre; Greenhalgh, Lynn; Greville-Heygate, Stephanie; Harrison, Victoria; Lachlan, Katherine; McKenna, Caoimhe; Quigley, Alan J; Rea, Gillian; Robertson, Lisa; Suri, Mohnish; Jackson, Andrew P

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

TRIO 基因突变对 RAC1 的反向调节与不同领域特异性的神经发育障碍相关

Sónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto-Kaufmann, Andrey V Kajava, Damien Laouteouet, Rebecca Mawby, Htoo Aung Wai, Alexander J M Dingemans, Jayne Hehir-Kwa, Marjorlaine Willems, Yline Capri, Sarju G Mehta, Helen Cox, David Goudie, Fleur Vansenne, Pe

Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer

CHEK2基因致病变异与有症状的早发性乳腺癌预后不良相关

Greville-Heygate, Stephanie L; Maishman, Tom; Tapper, William J; Cutress, Ramsey I; Copson, Ellen; Dunning, Alison M; Haywood, Linda; Jones, Louise J; Eccles, Diana M

Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers

多灶性乳腺癌在BRCA2突变携带者中比在BRCA1突变携带者中更为常见。

McCrorie, Alan D; Ashfield, Susannah; Begley, Aislinn; Mcilmunn, Colin; Morrison, Patrick J; Boyd, Clinton; Eccles, Bryony; Greville-Heygate, Stephanie; Copson, Ellen R; Cutress, Ramsey I; Eccles, Diana M; Savage, Kienan I; McIntosh, Stuart A

Analysis of Mitochondrial haemoglobin in Parkinson's disease brain

帕金森病患者脑内线粒体血红蛋白的分析

Freya Shephard, Oliver Greville-Heygate, Susan Liddell, Richard Emes, Lisa Chakrabarti

A mitochondrial location for haemoglobins--dynamic distribution in ageing and Parkinson's disease

血红蛋白的线粒体位置——衰老和帕金森病中的动态分布

Freya Shephard, Oliver Greville-Heygate, Oliver Marsh, Susan Anderson, Lisa Chakrabarti

The effect of insulin treatment and of islet transplantation on the resistance artery function in the STZ-induced diabetic rat

胰岛素治疗和胰岛移植对链脲佐菌素(STZ)诱导糖尿病大鼠阻力动脉功能的影响

Heygate, K M; Davies, J; Holmes, M; James, R F; Thurston, H

Impaired endothelium-dependent relaxation in isolated resistance arteries of spontaneously diabetic rats

自发性糖尿病大鼠离体阻力动脉内皮依赖性舒张功能受损

Heygate, K M; Lawrence, I G; Bennett, M A; Thurston, H