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

A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome

合子后 GNA13 变异上调 RHOA/ROCK 通路并改变马赛克皮肤色素减退综合征中的黑素细胞功能

Rana El Masri, Alberto Iannuzzo, Paul Kuentz, Rachida Tacine, Marie Vincent, Sébastien Barbarot, Fanny Morice-Picard, Franck Boralevi, Naia Oillarburu, Juliette Mazereeuw-Hautier, Yannis Duffourd, Laurence Faivre, Arthur Sorlin, Pierre Vabres #, Jérôme Delon #6

PROMENADE: pembrolizumab for early ER-low/HER2-negative breast cancer, real-world French cohort

PROMENADE:帕博利珠单抗治疗早期ER低表达/HER2阴性乳腺癌,法国真实世界队列研究

Cherifi, F; Cabel, L; Bousrih, C; Volant, E; Dalenc, F; Mery, B; Auvray Kuentz, M; Mailliez, A; Ladoire, S; de Nonneville, A; Alexandre, M; Benistant, L; Leheurteur, M; Bailleux, C; Debled, M; Frenel, J-S; Loirat, D; Bastien, E; Aussedat, Q; Bidard, F C; Aho, S; Glenet, A; Mourato-Ribeiro, J; Johnson, A; Christy, F; Emile, G

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3相关神经发育障碍的综合分析:表型和基因型特征

Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsma, Emilia K; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette M; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David A; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda H; Sherr, Elliott H; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre M; Van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn J A; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma L; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette

Mechanistic Investigation into the Phase Separation Behavior of Soluplus in the Presence of Biorelevant Media

在生物相关介质存在下,对Soluplus相分离行为的机理研究

Lange, Justus Johann; Senniksen, Malte Bøgh; Wyttenbach, Nicole; Page, Susanne; Bateman, Lorraine M; O'Dwyer, Patrick J; Saal, Wiebke; Kuentz, Martin; Griffin, Brendan T

Discovery of Cilnidipine Cocrystals with Enhanced Dissolution by the Use of Computational Tools and Semiautomatic High-Throughput Screening

利用计算工具和半自动高通量筛选发现具有增强溶解性的西尼地平共晶体

Guidetti, Matteo; Hilfiker, Rolf; De Paul, Susan M; Bauer-Brandl, Annette; Blatter, Fritz; Kuentz, Martin

Study of Blood Biomarkers in Athletes with Lower Gastrointestinal Symptoms After an Ultra-Trail Race

越野跑比赛后出现下消化道症状的运动员血液生物标志物研究

Joshua Teyssier, Sébastien Perbet, Bruno Pereira, Stéphane Bergzoll, Mathieu Kuentz, Julie Durif, Vincent Sapin, Matthieu Jabaudon, Damien Bouvier

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France

PERIGENOMED-CLINICS 1——首个关于 PERIGENOMED 可行性、接受度和心理社会影响的研究:一项旨在为基于基因组测序的筛查方法在法国新生儿筛查 (NBS) 中的相关性提供初步具体证据的试点项目

Level, Camille; Thauvin-Robinet, Christel; Binquet, Christine; Duffourd, Yannis; Davoine, Emeline; Chevarin, Martin; Tran-Mau-Them, Frédéric; Lemaitre, Margot; Bruel, Ange-Line; Safraou, Hana; Salvi, Dominique; Tisserant, Emilie; Lecommandeur, Emmanuelle; Charreton, Amandine; Hassine, Amir; de Tayrac, Marie; Redon, Richard; Barc, Julien; Schmitt, Sebatien; Piard, Juliette; Kuentz, Paul; Cormier, Coline; Malbos, Marlène; Racine, Caroline; Chabrol, Brigitte; Cheillan, David; Tardy, Véronique; Colin, Estelle; Bris, Celine; Mercier, Sandra; Nizon, Mathilde; Gaudillat, Léa; Loizeau, Virginie; Lenelle, Camille; Mottet, Nicolas; Simon, Emmanuel; Arnoux, Jean-Baptiste; Carpentier, Maud; Renaud, Catherine; Ziegler, Alban; Lejeune, Catherine; Jannot, Anne-Sophie; Asensio, Marie-Laure; Rollier, Paul; Odent, Sylvie; Bezieau, Stéphane; Pasquier, Laurent; Huet, Frédéric; Faivre, Laurence

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

NAV3 是一种神经元形态发生蛋白,其变异会导致智力障碍、发育迟缓和小头畸形

Ghaffar Amama, Akhter Tehmeena, Strømme Petter, Misceo Doriana, Khan Amjad, Frengen Eirik, Umair Muhammad, Isidor Bertrand, Cogné Benjamin, Khan Asma A, Bruel Ange-Line, Sorlin Arthur, Kuentz Paul, Chiaverini Christine, Innes A Micheil, Zech Michael, Baláž Marek, Havrankova Petra, Jech Robert, Ahmed Zubair M, Riazuddin Sheikh, Riazuddin Saima

Computational Support to Explore Ternary Solid Dispersions of Challenging Drugs Using Coformer and Hydroxypropyl Cellulose

利用共成型剂和羟丙基纤维素探索难解药物的三元固体分散体的计算支持

Niederquell, Andreas; Herzig, Susanne; Schönenberger, Monica; Stoyanov, Edmont; Kuentz, Martin

Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis

MYRF相关心脏泌尿生殖系统综合征的胎儿表现:一种新兴且具有挑战性的产前诊断

Favier, Maud; Brischoux-Boucher, Elise; Pyle, Louise C; Mottet, Nicolas; Auber-Lenoir, Marion; Cattin, Julie; Dahlen, Eric; Cabrol, Christelle; Arbez-Gindre, Francine; Attié-Bitach, Tania; Boute, Odile; Devisme, Louise; Trost, Detlef; Boughalem, Aicha; Chitayat, David; Prasov, Lev; Chorin, Odelia; Rein-Rothschild, Annick; Kassif, Eran; Weissbach, Tal; Hendon, Laura Godfrey; Adam, Margaret P; Quelin, Chloé; Jaillard, Sylvie; Mary, Laura; Aukema, Sietse M; Heijligers, Malou; de Die-Smulders, Christine; Stegmann, Sander; Badalato, Lauren; Ben-Yehuda, Adi; Beneteau, Claire; Forey, Pierre-Louis; Kuentz, Paul; Piard, Juliette