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

Leptin and adiponectin in children and young persons with congenital adrenal hyperplasia

先天性肾上腺皮质增生症患儿和青少年体内的瘦素和脂联素

Bacila, Irina A; Lawrence, Neil R; Alvi, Sabah; Cheetham, Timothy D; Crowne, Elizabeth; Das, Urmi; Dattani, Mehul T; Davies, Justin H; Gevers, Evelien; Keevil, Brian; Krone, Ruth E; Lawrie, Allan; Patel, Leena; Randell, Tabitha; Ryan, Fiona J; Ahmed, S Faisal; Krone, Nils P

Transcriptomic sex differences in early human fetal brain development.

人类胎儿早期大脑发育的转录组性别差异

Buonocore Federica, Suntharalingham Jenifer P, Ogunbiyi Olumide K, Jones Aragorn, Moreno Nadjeda, Niola Paola, Brooks Tony, Solanky Nita, Dattani Mehul T, Del Valle Ignacio, Achermann John C

SUN-441 Crinecerfont Shows Favorable Trends in Improving Clinical Outcomes in Children and Adolescents With Classic Congenital Adrenal Hyperplasia: 1-Year Results From the CAHtalyst™ Pediatric Study

SUN-441 Crinecerfont 在改善经典型先天性肾上腺皮质增生症患儿和青少年的临床结局方面显示出良好的趋势:CAHtalyst™ 儿科研究的 1 年结果

Yang, Xue; Yao, Xiao; Qiu, Yinyuan; Sarafoglou, Kyriakie; Lekarev, Oksana; Loechner, Karen; Yang, Ming; Mick, Gail J; Dattani, Mehul T; Bettendorf, Markus; Clemente, Maria; Salerno, Mariacarolina; Farber, Robert H; Chan, Jean L; Rosales, Gelliza B G; Jeha, George S

Mapping the anatomical and transcriptional landscape of early human fetal ovary development.

绘制人类早期胎儿卵巢发育的解剖和转录图谱

McGlacken-Byrne Sinead M, Del Valle Ignacio, Xenakis Theodoros, Simcock Ian C, Suntharalingham Jenifer P, Buonocore Federica, Crespo Berta, Moreno Nadjeda, Liptrot Danielle, Niola Paola, Brooks Tony, Conway Gerard S, Dattani Mehul T, Arthurs Owen J, Solanky Nita, Achermann John C

SAT-418 Crinecerfont Allows for More Physiologic Glucocorticoid Treatment With Reduction of Androstenedione to a Normal Range in Pediatric Patients With Classic Congenital Adrenal Hyperplasia: Post Hoc Analysis of the CAHtalyst™ Pediatric Study

SAT-418 Crinecerfont 可使经典型先天性肾上腺皮质增生症患儿的雄烯二酮水平降至正常范围,从而实现更符合生理的糖皮质激素治疗:CAHtalyst™ 儿科研究的事后分析

Eyal, Hedva; Lodish, Maya; Fechner, Patricia Y; Trinh, Lien N; Kim, Mimi S; Bettendorf, Markus; Salerno, Mariacarolina; Dattani, Mehul T; Rosales, Gelliza B G; Roberts, Eiry; Jeha, George S; Farber, Robert H; Chan, Jean L

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency

早期原发性卵巢功能不全外显子组测序分析的分层方法

McGlacken-Byrne, Sinéad M; Suntharalingham, Jenifer P; Ishida, Miho; Buonocore, Federica; Del Valle, Ignacio; Cameron-Pimblett, Antoinette; Dattani, Mehul T; Achermann, John C; Conway, Gerard S

Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism

青春期启动和进展的关键特征有助于区分自限性青春期延迟和先天性促性腺激素低下性性腺功能减退症。

Aung, Yuri; Kokotsis, Vasilis; Yin, Kyla Ng; Banerjee, Kausik; Butler, Gary; Dattani, Mehul T; Dimitri, Paul; Dunkel, Leo; Hughes, Claire; McGuigan, Michael; Korbonits, Márta; Paltoglou, George; Sakka, Sophia; Shah, Pratik; Storr, Helen L; Willemsen, Ruben H; Howard, Sasha R

Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective

重度原发性胰岛素样生长因子-I缺乏症(SPIGFD)患者护理面临的挑战:国际多方利益相关者的视角

Backeljauw, Philippe F; Andrews, Mary; Bang, Peter; Dalle Molle, Leo; Deal, Cheri L; Harvey, Jamie; Langham, Shirley; Petriczko, Elżbieta; Polak, Michel; Storr, Helen L; Dattani, Mehul T

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

RNPC3基因的致病性变异与垂体功能减退和原发性卵巢功能不全有关。

Akin, Leyla; Rizzoti, Karine; Gregory, Louise C; Corredor, Beatriz; Le Quesne Stabej, Polona; Williams, Hywel; Buonocore, Federica; Mouilleron, Stephane; Capra, Valeria; McGlacken-Byrne, Sinead M; Martos-Moreno, Gabriel Á; Azmanov, Dimitar N; Kendirci, Mustafa; Kurtoglu, Selim; Suntharalingham, Jenifer P; Galichet, Christophe; Gustincich, Stefano; Tasic, Velibor; Achermann, John C; Accogli, Andrea; Filipovska, Aleksandra; Tuilpakov, Anatoly; Maghnie, Mohamad; Gucev, Zoran; Gonen, Zeynep Burcin; Pérez-Jurado, Luis A; Robinson, Iain; Lovell-Badge, Robin; Argente, Jesús; Dattani, Mehul T

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency

ZSWIM7与人类女性减数分裂和家族性原发性卵巢功能不全有关

McGlacken-Byrne, Sinéad M; Le Quesne Stabej, Polona; Del Valle, Ignacio; Ocaka, Louise; Gagunashvili, Andrey; Crespo, Berta; Moreno, Nadjeda; James, Chela; Bacchelli, Chiara; Dattani, Mehul T; Williams, Hywel J; Kelberman, Dan; Achermann, John C; Conway, Gerard S