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

Letter to the Editor From Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia »

致编辑的信，来自 Janot 等人：“ZNRF3 外显子 2 的单外显子缺失导致先天性肾上腺发育不全”

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgae229
Janot, Clément; Bachelot, Anne; Mallet, Delphine; Simon, Dominique; Val, Pierre; Roucher-Boulez, Florence
发育与干细胞
免疫/内分泌
发表日期：2024
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Urinary gonadotropin assay on 24-h collections as a tool to detect early central puberty onset in girls: determination of predictive thresholds

利用24小时尿液样本进行促性腺激素测定来检测女孩早期中枢性青春期发育：确定预测阈值

期刊:Human Reproduction
影响因子:
doi:10.1093/humrep/deae055
Janot, Clément; Perrin, Pauline; Raverot, Véronique; Bretones, Patricia; Ecochard, René; Malburet-Testori, Sarah; Nicolino, Marc; Robert, Zoé; Roucher-Boulez, Florence; Villanueva, Carine; Perge, Kevin; Plotton, Ingrid
发育与干细胞
免疫/内分泌
发表日期：2024
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Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation

LGR4/GPR48 的缺失会导致新生儿严重失盐，这是由于 WNT 信号通路紊乱，改变了肾上腺分区所致。

期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI164915
Lucas, Cécily; Sauter, Kay-Sara; Steigert, Michael; Mallet, Delphine; Wilmouth, James; Olabe, Julie; Plotton, Ingrid; Morel, Yves; Aeberli, Daniel; Wagner, Franca; Clevers, Hans; Pandey, Amit V; Val, Pierre; Roucher-Boulez, Florence; Flück, Christa E
信号转导
LGR4
免疫/内分泌
发表日期：2023
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Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5)

病例报告：对一名携带致病性 NR5A1 (SF-1) 移码变异 p.(Phe70Serfs*5) 的患者进行纵向随访和睾丸精子提取

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2023.1171822
Teoli, Jordan; Mallet, Delphine; Renault, Lucie; Gay, Claire-Lise; Labrune, Elsa; Bretones, Patricia; Giscard D'Estaing, Sandrine; Cuzin, Béatrice; Dijoud, Frédérique; Roucher-Boulez, Florence; Plotton, Ingrid
发表日期：2023
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Towards a Swiss health study with human biomonitoring: Learnings from the pilot phase about participation and design

迈向一项采用人体生物监测的瑞士健康研究：从试点阶段关于参与和设计方面汲取的经验教训

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0289181
Morand Bourqui, Réjane; Nusslé, Semira Gonseth; von Goetz, Natalie; Veys-Takeuchi, Caroline; Zuppinger, Claire; Boulez, Yoanne; Bühler, Nolwenn; Chapatte, Laurence; Currat, Christine; Dousse, Aline; Faivre, Vincent; Franco, Oscar H; Virzi, Julien; Bourqui-Pittet, Martine; Bochud, Murielle
发表日期：2023
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Testicular impairment in Primary Adrenal Insufficiency caused by Nicotinamide Nucleotide Transhydrogenase (NNT) deficiency - a case report: implication of oxidative stress and importance of fertility preservation

烟酰胺核苷酸转氢酶 (NNT) 缺乏引起的原发性肾上腺皮质功能不全导致睾丸功能障碍——病例报告：氧化应激的影响及生育力保护的重要性

期刊:Basic and Clinical Andrology
影响因子:2
doi:10.1186/s12610-022-00176-6
Ferreux, Lucile; Boumerdassi, Yasmine; Dulioust, Emmanuel; Bertagna, Xavier; Roucher-Boulez, Florence; Bourdon, Mathilde; Thiounn, Nicolas; Patrat, Catherine
氧化应激
毒理研究
免疫/内分泌
发表日期：2023
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Loss of SUMO-specific protease 2 causes isolated glucocorticoid deficiency by blocking adrenal cortex zonal transdifferentiation in mice

SUMO 特异性蛋白酶 2 的缺失会阻断小鼠肾上腺皮质区域转分化，从而导致单独的糖皮质激素缺乏症

期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-022-35526-5
Damien Dufour, Typhanie Dumontet, Isabelle Sahut-Barnola, Aude Carusi, Méline Onzon, Eric Pussard, James Jr Wilmouth, Julie Olabe, Cécily Lucas, Adrien Levasseur, Christelle Damon-Soubeyrand, Jean-Christophe Pointud, Florence Roucher-Boulez, Igor Tauveron, Guillaume Bossis, Edward T Yeh, David T Bre
信号转导
发表日期：2022
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Sexually dimorphic activation of innate antitumor immunity prevents adrenocortical carcinoma development

先天性抗肿瘤免疫的性别二态性激活可预防肾上腺皮质癌的发生。

期刊:Science Advances
影响因子:11.7
doi:10.1126/sciadv.add0422
James J Wilmouth Jr ，Julie Olabe ，Diana Garcia-Garcia ，Cécily Lucas ，Rachel Guiton ，Florence Roucher-Boulez ，Damien Dufour ，Christelle Damon-Soubeyrand ，Isabelle Sahut-Barnola ，Jean-Christophe Pointud ，Yoan Renaud ，Adrien Levasseur ，Igor Tauveron ，Anne-Marie Lefrançois-Martinez ，Antoine Martinez ，Pierre Val
免疫/内分泌
肿瘤
肿瘤免疫
发表日期：2022
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Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 (DAX1) Pathogenic Variants

重组促性腺激素对 NR0B1 (DAX1) 致病变异体 5 例患者睾丸功能和睾丸精子提取的影响

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2022.855082
Teoli, Jordan; Mezzarobba, Vincent; Renault, Lucie; Mallet, Delphine; Lejeune, Hervé; Chatelain, Pierre; Tixier, Frédérique; Nicolino, Marc; Peretti, Noël; Giscard D'estaing, Sandrine; Cuzin, Béatrice; Dijoud, Frédérique; Roucher-Boulez, Florence; Plotton, Ingrid
免疫/内分泌
发表日期：2022
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Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria

阿尔及利亚3β-羟类固醇脱氢酶缺乏症的基因型、死亡率、发病率和预后

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2022.867073
Ladjouze, Asmahane; Donaldson, Malcolm; Plotton, Ingrid; Djenane, Nacima; Mohammedi, Kahina; Tardy-Guidollet, Véronique; Mallet, Delphine; Boulesnane, Kamélia; Bouzerar, Zair; Morel, Yves; Roucher-Boulez, Florence
发表日期：2022
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