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

Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine

偏瘫性偏头痛中 CACNA1I Cav3.3 功能障碍的调查

Neven Maksemous, Claire D Blayney, Heidi G Sutherland, Robert A Smith, Rod A Lea, Kim Ngan Tran, Omar Ibrahim, Jeffrey R McArthur, Larisa M Haupt, M Zameel Cader, Rocio K Finol-Urdaneta, David J Adams, Lyn R Griffiths

Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants

对一组疑似先证者进行偏瘫性偏头痛相关基因的全面外显子测序,鉴定出已知和潜在的致病变异

Heidi G Sutherland, Neven Maksemous, Cassie L Albury, Omar Ibrahim, Robert A Smith, Rod A Lea, Larisa M Haupt, Bronwyn Jenkins, Benjamin Tsang, Lyn R Griffiths

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case

外显子组测序诊断原发性免疫缺陷病例中的 X 连锁 Moesin 相关免疫缺陷

Gabrielle Bradshaw, Robbie R Lualhati, Cassie L Albury, Neven Maksemous, Deidre Roos-Araujo, Robert A Smith, Miles C Benton, David A Eccles, Rod A Lea, Heidi G Sutherland, Larisa M Haupt, Lyn R Griffiths

Next-generation sequencing reveals broad down-regulation of microRNAs in secondary progressive multiple sclerosis CD4+ T cells

下一代测序揭示了继发性进行性多发性硬化症 CD4+ T 细胞中 microRNA 的广泛下调

Katherine A Sanders, Miles C Benton, Rod A Lea, Vicki E Maltby, Susan Agland, Nathan Griffin, Rodney J Scott, Lotti Tajouri, Jeannette Lechner-Scott

Genetic association and gene expression studies suggest that genetic variants in the SYNE1 and TNF genes are related to menstrual migraine

遗传关联和基因表达研究表明,SYNE1 和 TNF 基因的遗传变异与月经性偏头痛有关

Astrid J Rodriguez-Acevedo, Robert A Smith, Bishakha Roy, Heidi Sutherland, Rod A Lea, Alison Frith, E Anne MacGregor, Lyn R Griffiths

A new method to detect loss of heterozygosity using cohort heterozygosity comparisons

利用队列杂合性比较检测杂合性缺失的新方法

Michael R Green, Paul Jardine, Peter Wood, Jeremy Wellwood, Rod A Lea, Paula Marlton, Lyn R Griffiths

Metastatic susceptibility locus, an 8p hot-spot for tumour progression disrupted in colorectal liver metastases: 13 candidate genes examined at the DNA, mRNA and protein level

转移易感基因位点是结直肠肝转移中肿瘤进展的 8p 热点:在 DNA、mRNA 和蛋白质水平上检查了 13 个候选基因

Donia P Macartney-Coxson, Kylie A Hood, Hong-jun Shi, Teresa Ward, Anna Wiles, Rosemary O'Connor, David A Hall, Rod A Lea, Janice A Royds, Richard S Stubbs, Serena Rooker