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

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses

先天性高胰岛素血症和新型KDM6A重复——利用基因组和表观遗传分析解析其致病性

Männistö, Jonna M E; Hopkins, Jasmin J; Hewat, Thomas I; Nasser, Fatima; Burrage, Joseph; Dastamani, Antonia; Mirante, Alice; Murphy, Nuala; Rzasa, Jessica; Kerkhof, Jennifer; Relator, Raissa; Johnson, Matthew B; Laver, Thomas W; Weymouth, Luke; Houghton, Jayne A L; Wakeling, Matthew N; Sadikovic, Bekim; Dempster, Emma L; Flanagan, Sarah E

Parent-Adolescent Communication, Self-Efficacy, and Self-Management of Type 1 Diabetes in Adolescents

亲子沟通、自我效能感和青少年1型糖尿病的自我管理

Tuohy, Ella; Gallagher, Pamela; Rawdon, Caroline; Murphy, Nuala; McDonnell, Ciara; Swallow, Veronica; Lambert, Veronica

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements

20号染色体短臂11.2区缺失导致FOXA2或其调控元件丢失,从而引起先天性高胰岛素血症。

Laver, Thomas W; Wakeling, Matthew N; Caswell, Richard C; Bunce, Benjamin; Yau, Daphne; Männistö, Jonna M E; Houghton, Jayne A L; Hopkins, Jasmin J; Weedon, Michael N; Saraff, Vrinda; Kershaw, Melanie; Honey, Engela M; Murphy, Nuala; Giri, Dinesh; Nath, Stuart; Tangari Saredo, Ana; Banerjee, Indraneel; Hussain, Khalid; Owens, Nick D L; Flanagan, Sarah E

A realist synthesis of multicentre comparative audit implementation: exploring what works and in which healthcare contexts

多中心比较审计实施的现实主义综合分析:探索哪些方法有效以及适用于哪些医疗保健环境

McGlacken-Byrne, Sinéad M; Murphy, Nuala P; Barry, Sarah

Parents' perspectives of factors affecting parent-adolescent communication about type 1 diabetes and negotiation of self-management responsibilities

父母对影响亲子间就1型糖尿病进行沟通以及协商自我管理责任的因素的看法

Rawdon, Caroline; Kilcullen, Sophia M; Murphy, Nuala; Swallow, Veronica; Gallagher, Pamela; Lambert, Veronica

Relationship between parent-adolescent communication and parent involvement in adolescent Type 1 diabetes management, parent/family wellbeing and glycaemic control

父母与青少年沟通及父母参与青少年1型糖尿病管理、父母/家庭福祉和血糖控制之间的关系

Benson, Ailbhe; Rawdon, Caroline; Tuohy, Ella; Murphy, Nuala; McDonnell, Ciara; Swallow, Veronica; Gallagher, Pamela; Lambert, Veronica

Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group

21三体综合征患儿先天性高胰岛素血症基因检测转诊率的增加,反映了该群体中非遗传风险因素的高负担。

Hewat, Thomas I; Laver, Thomas W; Houghton, Jayne A L; Männistö, Jonna M E; Alvi, Sabah; Brearey, Stephen P; Cody, Declan; Dastamani, Antonia; De Los Santos La Torre, Miguel; Murphy, Nuala; Rami-Merhar, Birgit; Wefers, Birgit; Huopio, Hanna; Banerjee, Indraneel; Johnson, Matthew B; Flanagan, Sarah E

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

DNA聚合酶ε缺乏症导致IMAGe综合征伴有不同的免疫缺陷

Logan, Clare V; Murray, Jennie E; Parry, David A; Robertson, Andrea; Bellelli, Roberto; Tarnauskaitė, Žygimantė; Challis, Rachel; Cleal, Louise; Borel, Valerie; Fluteau, Adeline; Santoyo-Lopez, Javier; Aitman, Tim; Barroso, Inês; Basel, Donald; Bicknell, Louise S; Goel, Himanshu; Hu, Hao; Huff, Chad; Hutchison, Michele; Joyce, Caroline; Knox, Rachel; Lacroix, Amy E; Langlois, Sylvie; McCandless, Shawn; McCarrier, Julie; Metcalfe, Kay A; Morrissey, Rose; Murphy, Nuala; Netchine, Irène; O'Connell, Susan M; Olney, Ann Haskins; Paria, Nandina; Rosenfeld, Jill A; Sherlock, Mark; Syverson, Erin; White, Perrin C; Wise, Carol; Yu, Yao; Zacharin, Margaret; Banerjee, Indraneel; Reijns, Martin; Bober, Michael B; Semple, Robert K; Boulton, Simon J; Rios, Jonathan J; Jackson, Andrew P

Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time

保守治疗由K-ATP通道基因突变引起的先天性高胰岛素血症(CHI):病情随时间推移而减轻

Salomon-Estebanez, Maria; Flanagan, Sarah E; Ellard, Sian; Rigby, Lindsey; Bowden, Louise; Mohamed, Zainab; Nicholson, Jacqueline; Skae, Mars; Hall, Caroline; Craigie, Ross; Padidela, Raja; Murphy, Nuala; Randell, Tabitha; Cosgrove, Karen E; Dunne, Mark J; Banerjee, Indraneel

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

STAT3基因的激活性种系突变会导致早发性多器官自身免疫性疾病

Flanagan, Sarah E; Haapaniemi, Emma; Russell, Mark A; Caswell, Richard; Allen, Hana Lango; De Franco, Elisa; McDonald, Timothy J; Rajala, Hanna; Ramelius, Anita; Barton, John; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Kajosaari, Merja; Murphy, Nuala P; Milenkovic, Tatjana; Seppänen, Mikko; Lernmark, Åke; Mustjoki, Satu; Otonkoski, Timo; Kere, Juha; Morgan, Noel G; Ellard, Sian; Hattersley, Andrew T