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

Increased METTL3 Expression and m6A Methylation in Myoblasts of Facioscapulohumeral Muscular Dystrophy.

面肩肱型肌营养不良症成肌细胞中 METTL3 表达增加和 m6A 甲基化

Settas Nikolaos, Bittel Adam J, Chen Yi-Wen

High long-term retention rates of Secukinumab in psoriatic arthritis and ankylosing spondylitis: a 3-year interim analysis from the observational, prospective SERENA study, in Greek patients

在银屑病关节炎和强直性脊柱炎患者中,司库奇尤单抗的长期维持率较高:一项来自观察性前瞻性SERENA研究的3年中期分析(希腊患者)。

Bounas, Andreas; Kandyli, Anna; Katsifi, Gkikas; Boumpa, Dimitrios; Tektonidou, Maria G; Gazi, Sousana; Kotrotsios, Anastasios; Sakkas, Lazaros I; Georgiadis, Athanasios N; Settas, Loukas; Madia, Xenia; Ignatiadi, Dimitra; Sfikakis, Petros P

HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF

HNF1A基因突变与卵巢早衰(POF):来自MODY 3和POF联合临床范式的证据

Xekouki, P; Konstantinidou, A; Tatsi, C; Sertedaki, A; Settas, N; Loutradis, D; Chrousos, G P; Kanaka-Gantenbein, C; Dacou-Voutetakis, C; Voutetakis, A

USP13 genetics and expression in a family with thyroid cancer

USP13基因及其在甲状腺癌家族中的表达

Andrea G Maria ,Bruna Azevedo ,Nikolaos Settas ,Fady Hannah-Shmouni ,Constantine A Stratakis ,Fabio R Faucz

Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome

肾上腺皮质疾病和库欣综合征患者的蛋白激酶 A 调节亚基 1β 型 (PRKAR1B) 的基因组和序列变异

Ludivine Drougat #, Nikolaos Settas #, Cristina L Ronchi, Kerstin Bathon, Davide Calebiro, Andrea Gutierrez Maria, Sara Haydar, Antonios Voutetakis, Edra London, Fabio R Faucz, Constantine A Stratakis

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

PRKAR1B基因变异会导致一种神经发育障碍,伴有自闭症谱系障碍、失用症和疼痛感觉缺失。

Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F; Martinez-Agosto, Julian A; Palmer, Christina G S; Signer, Rebecca H; Andrews, Marisa V; Grange, Dorothy K; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiß, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P

Cushing Syndrome in a Pediatric Patient With a KCNJ5 Variant and Successful Treatment With Low-dose Ketoconazole

一名患有 KCNJ5 变异的儿童患者患有库欣综合征,并接受低剂量酮康唑治疗成功

Christina Tatsi, Andrea G Maria, Cole Malloy, Lin Lin, Edra London, Nick Settas, Chelsi Flippo, Meg Keil, Fady Hannah-Shmouni, Dax A Hoffman, Constantine A Stratakis

Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency

卡尼三联征、卡尼-斯特拉塔基斯综合征、3PAS 和其他由 SDH 缺乏引起的肿瘤

Pitsava, Georgia; Settas, Nikolaos; Faucz, Fabio R; Stratakis, Constantine A

The PRKAR1B p.R115K Variant is Associated with Lipoprotein Profile in African American Youth with Metabolic Challenges

PRKAR1B p.R115K 变异与存在代谢问题的非裔美国青少年的脂蛋白谱相关

Bloyd, Michelle; Settas, Nikolaos; Faucz, Fabio Rueda; Sinaii, Ninet; Bathon, Kerstin; Iben, James; Coon, Steven; Caprio, Sonia; Stratakis, Constantine A; London, Edra

PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.

PRKACB 变异与骨骼疾病或肾上腺皮质增生:对蛋白激酶 A 的影响

Espiard Stephanie, Drougat Ludivine, Settas Nikolaos, Haydar Sara, Bathon Kerstin, London Edra, Levy Isaac, Faucz Fabio R, Calebiro Davide, Bertherat Jérôme, Li Dong, Levine Michael A, Stratakis Constantine A