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

Functional profiling of somatostatin receptors identifies somatostatin receptor subtype 2 as a vulnerability in Succinate Dehydrogenase SDHB-deficient pheochromocytomas and paragangliomas

生长抑素受体的功能分析表明,生长抑素受体亚型2是琥珀酸脱氢酶SDHB缺陷型嗜铬细胞瘤和副神经节瘤的脆弱性。

García-Vioque, Víctor; Pedraza-Arevalo, Sergio; Moreno-Montilla, María Trinidad; Rivero-Cortés, Esther; Blázquez-Encinas, Ricardo; Mangili, Federica; Arroba, Ester; Herrera-Martínez, Aura D; Culler, Michael D; Gálvez-Moreno, María Ángeles; Barlier, Anne; Botella, Luisa María; Robledo, Mercedes; Castaño, Justo P; Ibáñez-Costa, Alejandro

Insights from 2057 germline genetic tests in renal cell carcinoma patients support revisiting testing criteria

对2057例肾细胞癌患者进行生殖系基因检测的结果支持重新审视检测标准。

Vibert, Roseline; El Baroudi, Yahya; Vecten, Maude; Buffet, Alexandre; Verkarre, Virginie; Gimenez-Roqueplo, Anne-Paule; Richard, Stéphane; Favier, Judith; Barlier, Anne; Giraud, Sophie; Burnichon, Nelly

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

家族性甲状腺髓样癌继发于SLC30A9基因内缺失和翻译重新起始

Iacovazzo, Donato; Begalli, Federica; Suleyman, Oniz; Doleschall, Márton; Alevizaki, Maria; Ashelford, Kevin E; Awad Mahmoud, Sherine; Barlier, Anne; Barry, Sayka; Brain, Caroline; Cabrera, Claudia P; Castinetti, Frédéric; Chiloiro, Sabrina; Colclough, Kevin; Csábi, Alexandra; Druce, Maralyn R; Dutta, Pinaki; Fatih, Jawid M; Foulkes, William D; Gandhi, Mira; Grochowski, Christopher M; Hall, Charlotte L; Jarząb, Barbara; Klein, Kathleen O; Krajewska, Jolanta; Kurzawinski, Tom R; Lamers, Sebastiaan; Lugli, Francesca; Magid, Kesson; Margraf, Rebecca; Martin, Carmen S; Mathiesen, Jes S; Mihai, Radu; Morrison, Patrick J; Mozere, Monika; Oczko-Wojciechowska, Małgorzata; Owens, Martina; Ozretić, Luka; Patócs, Attila; Piacentini, Serena; Punetha, Jaya; Romanet, Pauline; Savola, Suvi; Schoenfelder, Stefan; Scott-Coombes, David M; Stanescu, Horia; Tekman, Mehmet; Thomas, Laura E; Tóth, Miklós; Wingett, Steven W; Witcher, Michael; Carvalho, Claudia M B; Franke, Martin; Kleta, Robert; Lupski, James R; Sampson, Julian R; De Marinis, Laura; Korbonits, Márta

Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing

揭示VHL外显子2突变对红细胞增多症或von Hippel-Lindau病的影响,发现了参与VHL剪接的RNA结合蛋白。

Karaghiannis, Valéna; Schmitt, Loïc; Chesnel, Franck; Gautier, Emilie-Fleur; Leduc, Marjorie; Le Gall, Morgane; Idriss, Salam; Couvé, Sophie; Barlier, Anne; Sarrabay, Guillaume; Maaziz, Nada; Cassinat, Bruno; Legros, Laurence; Thibaud, Vincent; Richard, Stéphane; Girodon, François; Miro, Julie; Tuffery-Giraud, Sylvie; Arlot, Yannick; Gardie, Betty

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

Case Report: Late diagnosis of McCune-Albright with severe kyphoscoliosis, acromegaly and tertiary hyperparathyroidism

病例报告:McCune-Albright综合征伴严重脊柱侧弯、肢端肥大症和三级甲状旁腺功能亢进症的晚期诊断

Bogusławska, Anna; Komisarz-Calik, Maria; Hubalewska-Dydejczyk, Alicja; Korbonits, Márta; Romanet, Pauline; Barlier, Anne; Gilis-Januszewska, Aleksandra

Menstrual cycle or hormonal contraceptive related symptoms in elite female athletes from retrospective self-questionnaires and daily monitoring: impact on well-being and objective performance metrics

通过回顾性自我问卷调查和日常监测,探讨精英女运动员的月经周期或激素避孕相关症状:对身心健康和客观运动表现指标的影响

Badier, Nolwenn; Dupuit, Marine; Chassard, Tom; Barlier, Kilian; Lafitte, Alice; Saulière, Guillaume; Delrieu, Lidia; Toussaint, Jean-François; Antero, Juliana

CSNK2B Mutation: A Rare Cause of IGHD

CSNK2B基因突变:IGHD的一种罕见病因

Aouchiche, Karine; Romanet, Pauline; Barlier, Anne; Brue, Thierry; Pertuit, Morgane; Reynaud, Rachel; Saveanu, Alexandru

Heart Rate Variability Measurements Across the Menstrual Cycle and Oral Contraceptive Phases in Two Olympian Female Swimmers: A Case Report

两名奥运女游泳运动员在月经周期和口服避孕药服用期间的心率变异性测量:病例报告

Dupuit, Marine; Barlier, Kilian; Tranchard, Benjamin; Toussaint, Jean-François; Antero, Juliana; Pla, Robin

Detecting expressed genes in cell populations at the single-cell level with scGeneXpress

利用scGeneXpress在单细胞水平上检测细胞群体中表达的基因

Jung, Sascha; Barlier, Céline; Martinez Perez, Aitor; Del Sol, Antonio