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

Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.

因新型甲状旁腺激素受体 1 型突变引起的甲状旁腺激素抵抗的 Eiken 综合征:临床特征和功能分析

Calder Alistair D, Allgrove Jeremy, Höppner Jakob, Cheung Moira, Alexander Saji, Garagnani Lorenzo, Thakker Rajesh, Jüppner Harald, Gardella Thomas J, Holder-Espinasse Muriel

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification

GNAQ/GNA11嵌合体与血清钙指标异常和微血管神经钙化相关

Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; Heales, Simon; Krywawych, Steve; López-Balboa, Pablo; Muwanga-Nanyonjo, Noreen; Ogunbiyi, Olumide; Puvirajasinghe, Clinda; Solman, Lea; Swarbrick, Katherine; Syed, Samira B; Tahir, Zubair; Tisdall, Martin M; Allgrove, Jeremy; Chesover, Alexander D; Aylett, Sarah E; Jacques, Thomas S; Hannan, Fadil M; Löbel, Ulrike; Semple, Robert K; Thakker, Rajesh V; Kinsler, Veronica A

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK

不明病因儿童原发性肾上腺皮质功能不全的基因分析:英国25年经验

Buonocore, Federica; Maharaj, Avinaash; Qamar, Younus; Koehler, Katrin; Suntharalingham, Jenifer P; Chan, Li F; Ferraz-de-Souza, Bruno; Hughes, Claire R; Lin, Lin; Prasad, Rathi; Allgrove, Jeremy; Andrews, Edward T; Buchanan, Charles R; Cheetham, Tim D; Crowne, Elizabeth C; Davies, Justin H; Gregory, John W; Hindmarsh, Peter C; Hulse, Tony; Krone, Nils P; Shah, Pratik; Shaikh, M Guftar; Roberts, Catherine; Clayton, Peter E; Dattani, Mehul T; Thomas, N Simon; Huebner, Angela; Clark, Adrian J; Metherell, Louise A; Achermann, John C

Endocrine Diseases of Newborn: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome "Current Insights Into Disorders of Calcium and Phosphate in the Newborn"

新生儿内分泌疾病:流行病学、发病机制、治疗选择和预后 “新生儿钙磷代谢紊乱的最新见解”

Taylor-Miller, Tashunka; Allgrove, Jeremy

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V

由 Gαs 基因突变 p.F376V 引起的一种新的多系统疾病

Biebermann, Heike; Kleinau, Gunnar; Schnabel, Dirk; Bockenhauer, Detlef; Wilson, Louise C; Tully, Ian; Kiff, Sarah; Scheerer, Patrick; Reyes, Monica; Paisdzior, Sarah; Gregory, John W; Allgrove, Jeremy; Krude, Heiko; Mannstadt, Michael; Gardella, Thomas J; Dattani, Mehul; Jüppner, Harald; Grüters, Annette

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3)

衔接蛋白 2σ 亚基 (AP2S1) 基因突变分析:寻找常染色体显性低钙血症 3 型 (ADH3)

Rogers, Angela; Nesbit, M Andrew; Hannan, Fadil M; Howles, Sarah A; Gorvin, Caroline M; Cranston, Treena; Allgrove, Jeremy; Bevan, John S; Bano, Gul; Brain, Caroline; Datta, Vipan; Grossman, Ashley B; Hodgson, Shirley V; Izatt, Louise; Millar-Jones, Lynne; Pearce, Simon H; Robertson, Lisa; Selby, Peter L; Shine, Brian; Snape, Katie; Warner, Justin; Thakker, Rajesh V

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times

构建22q11.2缺失综合征管理安全网:面向我们时代的指导原则

Habel, Alex; Herriot, Richard; Kumararatne, Dinakantha; Allgrove, Jeremy; Baker, Kate; Baxendale, Helen; Bu'Lock, Frances; Firth, Helen; Gennery, Andrew; Holland, Anthony; Illingworth, Claire; Mercer, Nigel; Pannebakker, Merel; Parry, Andrew; Roberts, Anne; Tsai-Goodman, Beverly