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

Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis

重新评估 p.(Arg304Gln) 错义 AIP 变异在垂体肿瘤发生中的作用

Loughrey, Paul Benjamin; Mothojakan, Nadira B; Iacovazzo, Donato; Arni, Ankit; Aflorei, Elena D; Arnaldi, Giorgio; Barlier, Anne; Beckers, Albert; Bizzi, Mariana F; Chanson, Philippe; Dal, Jakob; Daly, Adrian F; Dang, Mary N; David, Alessia; Andrade, Matheus de Oliveira; Else, Tobias; Elston, Marianne S; Evans, Amy; Ferrau, Francesco; Fica, Simona; Flanagan, Daniel; Gadelha, Monica R; Grossman, Ashley B; Kapur, Sonal; Khoo, Bernard; Kumar, Ajith V; Kumar-Sinha, Chandan; Lechan, Ronald M; Ludman, Mark; Metherell, Louise A; Miljic, Dragana; Mourougavelou, Vishnou; Musat, Madalina; Occhi, Gianluca; Owens, Martina; Pascanu, Ionela; Pinheiro, Sergio V B; Radian, Serban; Ribeiro-Oliveira, Antonio; Schöfl, Christof; Patel, Kashyap A; Hernández-Ramírez, Laura C; Korbonits, Márta

Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency

硫氧还蛋白还原酶 2 变异是导致小阴茎、隐睾和选择性糖皮质激素缺乏症的原因

Supitcha Patjamontri, Angela K Lucas-Herald, Martin McMillan, Rathi Prasad, Louise A Metherell, Ruth McGowan, Edward S Tobias, S Faisal Ahmed

Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation

鞘氨醇-1-磷酸裂解酶缺乏症引起的鱼鳞病是由于鞘脂和钙调节异常所致。

Christopher J Smith ,Jack L Williams ,Charlotte Hall ,Josefina Casas ,Matthew P Caley ,Edel A O'Toole ,Rathi Prasad ,Louise A Metherell

Adrenal Dysfunction in Mitochondrial Diseases

线粒体疾病中的肾上腺功能障碍

Corkery-Hayward, Madeleine; Metherell, Louise A

Digital access constraints predict worse mental health among adolescents during COVID-19

新冠疫情期间,数字接入受限预示着青少年心理健康状况恶化。

Metherell, Thomas E; Ghai, Sakshi; McCormick, Ethan M; Ford, Tamsin J; Orben, Amy

Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency

对一名患有肾上腺功能不全和鞘氨醇-1-磷酸裂解酶缺乏症的女孩进行长期随访的启示

Avinaash Maharaj ,Tülay Güran ,Federica Buonocore ,John C Achermann ,Louise Metherell ,Rathi Prasad ,Semra Çetinkaya

A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review

鞘氨醇-1-磷酸裂解酶不足症内分泌疾病的回顾性分析:病例系列及文献综述

Maharaj, Avinaash; Kwong, Ruth; Williams, Jack; Smith, Christopher; Storr, Helen; Krone, Ruth; Braslavsky, Debora; Clemente, Maria; Ram, Nanik; Banerjee, Indraneel; Çetinkaya, Semra; Buonocore, Federica; Güran, Tülay; Achermann, John C; Metherell, Louise; Prasad, Rathi

Acceptance and Commitment Therapy to support medication decision-making and quality of life in women with breast cancer: protocol for a pilot randomised controlled trial

接受与承诺疗法在支持乳腺癌女性药物决策和提高生活质量方面的应用:一项试点随机对照试验方案

Smith, Samuel G; Ellison, Rachel; Hall, Louise; Clark, Jane; Hartley, Suzanne; Mason, Ellen; Metherell, Jamie; Olivier, Catherine; Napp, Vicky; Naik, Jay; Buckley, Sarah; Hirst, Charlotte; Hartup, Sue; Neal, Richard D; Velikova, Galina; Farrin, Amanda; Collinson, Michelle; Graham, Christopher D

Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause

青春期、妊娠期或更年期出现的CTNNB1突变型醛固酮瘤中GNA11和GNAQ的体细胞突变

Junhua Zhou #,Elena A B Azizan #,Claudia P Cabrera #,Fabio L Fernandes-Rosa #,Sheerazed Boulkroun #,Giulia Argentesi,Emily Cottrell,Laurence Amar,Xilin Wu,Sam O'Toole,Emily Goodchild,Alison Marker,Russell Senanayake,Sumedha Garg ,Tobias Åkerström,Samuel Backman,Suzanne Jordan,Satyamaanasa Polubothu,Daniel M Berney,Anna Gluck,Kate E Lines,Rajesh V Thakker,Antoinette Tuthill,Caroline Joyce,Juan Pablo Kaski,Fiona E Karet Frankl,Lou A Metherell,Ada E D Teo,Mark Gurnell,Laila Parvanta,William M Drake,Eva Wozniak,David Klinzing,Jyn Ling Kuan,Zenia Tiang,Celso E Gomez Sanchez,Per Hellman,Roger S Y Foo,Charles A Mein,Veronica A Kinsler,Peyman Björklund,Helen L Storr,Maria-Christina Zennaro,Morris J Brown    0

Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes

对具有生长激素不敏感综合征重叠特征的矮小症患者进行基因分型

Andrews, Afiya; Maharaj, Avinaash; Cottrell, Emily; Chatterjee, Sumana; Shah, Pratik; Denvir, Louise; Dumic, Katja; Bossowski, Artur; Mushtaq, Talat; Vukovic, Rade; Didi, Mohamed; Shaw, Nick; Metherell, Louise A; Savage, Martin O; Storr, Helen L