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

Characterization of Turner Syndrome-associated Diabetes Mellitus

特纳综合征相关糖尿病的特征

Cameron-Pimblett, Antoinette; La Rosa, Clementina; Davies, Melanie C; Suntharalingham, Jenifer P; Ishida, Miho; Achermann, John C; Conway, Gerard S

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development

早期人类胎儿和胎盘发育过程中X单体(45,X)的转录组图谱

Suntharalingham, Jenifer P; Del Valle, Ignacio; Buonocore, Federica; McGlacken-Byrne, Sinead M; Brooks, Tony; Ogunbiyi, Olumide K; Liptrot, Danielle; Dunton, Nathan; Madhan, Gaganjit K; Metcalfe, Kate; Nel, Lydia; Marshall, Abigail R; Ishida, Miho; Sebire, Neil J; Moore, Gudrun E; Crespo, Berta; Solanky, Nita; Conway, Gerard S; Achermann, John C

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

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

Characterizing the Human Fetal Perimeiotic 45,X Ovary at Single-Cell Resolution

以单细胞分辨率表征人类胎儿45,X期卵巢

McGlacken-Byrne, Sinéad M; Del Valle, Ignacio; Xenakis, Theodoros; Suntharalingham, Jenifer P; Nel, Lydia; Liptrot, Danielle; Crespo, Berta; Ogunbiyi, Olumide K; Niola, Paola; Brooks, Tony; Solanky, Nita; Conway, Gerard S; Achermann, John C

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

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

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

与SAMD9基因变异相关的表型和MIRAGE综合征

Suntharalingham, Jenifer P; Ishida, Miho; Del Valle, Ignacio; Stalman, Susanne E; Solanky, Nita; Wakeling, Emma; Moore, Gudrun E; Achermann, John C; Buonocore, Federica

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

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis

三兄弟患有部分P450侧链裂解酶缺乏症的长期预后:早期诊断的重要性

Kallali, Wafa; Gray, Ewan; Mehdi, Muhammad Zain; Lindsay, Robert; Metherell, Louise A; Buonocore, Federica; Suntharalingham, Jenifer P; Achermann, John C; Donaldson, Malcolm