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

Current gynaecological management of women and girls with bleeding disorders in the United Kingdom: A UKHCDO haemophilia treatment centre survey and evaluation of real-world clinical practice for the British Journal of Haematology

英国出血性疾病女性和女孩的妇科治疗现状:英国血友病和血友病组织(UKHCDO)血友病治疗中心调查及对真实世界临床实践的评估(发表于《英国血液学杂志》)

Knox, Laura; Swart-Rimmer, Imogen; Rahimi, Naim; Harris, Callum; Abdalla, Lugain; Benson, Gary; Brown, Clare; Campbell, Helen; Carvalhosa, Ana; Clarke, Justin T; Garside, Sarah; Lentaigne, Claire; Mistry, Jayna; Raheja, Priyanka; Warren, Cora; Abdul-Kadir, Rezan; Lowe, Gill; Curry, Nicola

Oxidative stress, redox status and surfactant metabolism in mechanically ventilated patients receiving different approaches to oxygen therapy (MecROX): An observational study protocol for mechanistic evaluation

机械通气患者接受不同氧疗方案(MecROX)后氧化应激、氧化还原状态和肺表面活性物质代谢:一项机制评估的观察性研究方案

Dushianthan, Ahilanandan; Martin, Daniel; Mouncey, Paul; Shahid, Tasnin; Lampro, Lamprini; Johnson, Amelia Francis; Goss, Victoria; Cazley, Angelica; Herbert, William; Jones, William; Lamond, Mark; Neyroud, Florence; Salmon, Karen; Lentaigne, Julian; Minnion, Magdalena; Panchal, Madhuri; Koster, Grielof; Moyses, Helen; Postle, Anthony D; Feelisch, Martin; Grocott, Michael P W

Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function

PTGS1基因中发现一种纯合隐性变异,导致先天性血小板功能障碍,类似于阿司匹林样缺陷。

Chan, Melissa V; Hayman, Melissa A; Sivapalaratnam, Suthesh; Crescente, Marilena; Allan, Harriet E; Edin, Matthew L; Zeldin, Darryl C; Milne, Ginger L; Stephens, Jonathan; Greene, Daniel; Hanif, Moghees; O'Donnell, Valerie B; Dong, Liang; Malkowski, Michael G; Lentaigne, Claire; Wedderburn, Katherine; Stubbs, Matthew; Downes, Kate; Ouwehand, Willem H; Turro, Ernest; BioResource, Nihr; Hart, Daniel P; Freson, Kathleen; Laffan, Michael A; Warner, Timothy D

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

影响 GFI1B 功能的遗传性错义变异并不一定会导致出血倾向。

van Oorschot, Rinske; Marneth, Anna E; Bergevoet, Saskia M; van Bergen, Maaike G J M; Peerlinck, Kathelijne; Lentaigne, Claire E; Millar, Carolyn M; Westbury, Sarah K; Favier, Remi; Erber, Wendy N; Turro, Ernest; Jansen, Joop H; Ouwehand, Willem H; McKinney, Harriet L; Downes, Kate; Freson, Kathleen; van der Reijden, Bert A

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

GP1BB基因的罕见变异是常染色体显性遗传性巨血小板减少症的病因。

Sivapalaratnam, Suthesh; Westbury, Sarah K; Stephens, Jonathan C; Greene, Daniel; Downes, Kate; Kelly, Anne M; Lentaigne, Claire; Astle, William J; Huizinga, Eric G; Nurden, Paquita; Papadia, Sofia; Peerlinck, Kathelijne; Penkett, Christopher J; Perry, David J; Roughley, Catherine; Simeoni, Ilenia; Stirrups, Kathleen; Hart, Daniel P; Tait, R Campbell; Mumford, Andrew D; Laffan, Michael A; Freson, Kathleen; Ouwehand, Willem H; Kunishima, Shinji; Turro, Ernest

Inherited platelet disorders: toward DNA-based diagnosis

遗传性血小板疾病:迈向基于DNA的诊断

Lentaigne, Claire; Freson, Kathleen; Laffan, Michael A; Turro, Ernest; Ouwehand, Willem H

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

一种用于诊断遗传性出血、血栓和血小板疾病的高通量测序检测方法

Simeoni, Ilenia; Stephens, Jonathan C; Hu, Fengyuan; Deevi, Sri V V; Megy, Karyn; Bariana, Tadbir K; Lentaigne, Claire; Schulman, Sol; Sivapalaratnam, Suthesh; Vries, Minka J A; Westbury, Sarah K; Greene, Daniel; Papadia, Sofia; Alessi, Marie-Christine; Attwood, Antony P; Ballmaier, Matthias; Baynam, Gareth; Bermejo, Emilse; Bertoli, Marta; Bray, Paul F; Bury, Loredana; Cattaneo, Marco; Collins, Peter; Daugherty, Louise C; Favier, Rémi; French, Deborah L; Furie, Bruce; Gattens, Michael; Germeshausen, Manuela; Ghevaert, Cedric; Goodeve, Anne C; Guerrero, Jose A; Hampshire, Daniel J; Hart, Daniel P; Heemskerk, Johan W M; Henskens, Yvonne M C; Hill, Marian; Hogg, Nancy; Jolley, Jennifer D; Kahr, Walter H; Kelly, Anne M; Kerr, Ron; Kostadima, Myrto; Kunishima, Shinji; Lambert, Michele P; Liesner, Ri; López, José A; Mapeta, Rutendo P; Mathias, Mary; Millar, Carolyn M; Nathwani, Amit; Neerman-Arbez, Marguerite; Nurden, Alan T; Nurden, Paquita; Othman, Maha; Peerlinck, Kathelijne; Perry, David J; Poudel, Pawan; Reitsma, Pieter; Rondina, Matthew T; Smethurst, Peter A; Stevenson, William; Szkotak, Artur; Tuna, Salih; van Geet, Christel; Whitehorn, Deborah; Wilcox, David A; Zhang, Bin; Revel-Vilk, Shoshana; Gresele, Paolo; Bellissimo, Daniel B; Penkett, Christopher J; Laffan, Michael A; Mumford, Andrew D; Rendon, Augusto; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H; Turro, Ernest

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

通用酪氨酸激酶 SRC 的显性功能获得突变会导致血小板减少、骨髓纤维化、出血和骨病变

Ernest Turro, Daniel Greene, Anouck Wijgaerts, Chantal Thys, Claire Lentaigne, Tadbir K Bariana, Sarah K Westbury, Anne M Kelly, Dominik Selleslag, Jonathan C Stephens, Sofia Papadia, Ilenia Simeoni, Christopher J Penkett, Sofie Ashford, Antony Attwood, Steve Austin, Tamam Bakchoul, Peter Collins, S

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

利用人类表型本体注释和聚类分析,揭示707例不明原因出血和血小板疾病患者的遗传缺陷。

Westbury, Sarah K; Turro, Ernest; Greene, Daniel; Lentaigne, Claire; Kelly, Anne M; Bariana, Tadbir K; Simeoni, Ilenia; Pillois, Xavier; Attwood, Antony; Austin, Steve; Jansen, Sjoert Bg; Bakchoul, Tamam; Crisp-Hihn, Abi; Erber, Wendy N; Favier, Rémi; Foad, Nicola; Gattens, Michael; Jolley, Jennifer D; Liesner, Ri; Meacham, Stuart; Millar, Carolyn M; Nurden, Alan T; Peerlinck, Kathelijne; Perry, David J; Poudel, Pawan; Schulman, Sol; Schulze, Harald; Stephens, Jonathan C; Furie, Bruce; Robinson, Peter N; van Geet, Chris; Rendon, Augusto; Gomez, Keith; Laffan, Michael A; Lambert, Michele P; Nurden, Paquita; Ouwehand, Willem H; Richardson, Sylvia; Mumford, Andrew D; Freson, Kathleen