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

Congenital hyperinsulinism in an individual with CHARGE syndrome and a pathogenic CHD7 variant

患有 CHARGE 综合征和致病性 CHD7 变异体的个体出现先天性高胰岛素血症

Ibeas, Consuelo; Giraudo, Franco; Männistö, Jonna M E; Flanagan, Sarah E; Mericq, Verónica

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

通过基因组、表型、功能、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward

Incorporation of Ag-ZnO Nanoparticles into PVDF Membrane Formulation to Enhance Dye Retention, Permeability, and Antibacterial Properties

将Ag-ZnO纳米颗粒掺入PVDF膜配方中以增强染料截留率、渗透性和抗菌性能

Chamam, Baha; Ben Dassi, Roua; Abderraouf, Jraba; Mericq, Jean Pierre; Faur, Catherine; Trabelsi, Ismail; El Mir, Lassaad; Heran, Marc

8696 Whole Exome Sequence Analysis in a Naïve Cohort of Congenital Hypopituitarism in a Single Center

单中心先天性垂体功能减退症初治患者队列的8696例全外显子组测序分析

Hong, Joshua Sungho; Lockie, Elizabeth; George, Sam; Prete, Alessandro; Theiler-Schwetz, Verena; Arlt, Wiebke; Oana Chifu, Irina; Harbeck, Birgit; Napier, Catherine; Newell-Price, John D C; Rees, Aled; Reisch, Nicole; Karl Stalla, Gunter; Aslam, Naila; Coope, Helen; Maltby, Kerry; Porter, John; Quirke, Jo; Ross, Richard John M; Prete, Alessandro; Theiler-Schwetz, Verena; Arlt, Wiebke; Oana Chifu, Irina; Harbeck, Birgit; Napier, Catherine; Newell-Price, John D C; Rees, Aled; Reisch, Nicole; Karl Stalla, Gunter; Aslam, Naila; Coope, Helen; Maltby, Kerry; Porter, John; Quirke, Jo; M Ross, Richard John; Fleseriu, Maria; Samson, Susan Leanne; Biermasz, Nienke; Strasburger, Christian Joseph; Orenbach, Shir Fuchs; Crompton, Jason A; Melmed, Shlomo; Remba-Shapiro, Ilan; Schweizer, Júnia R O L; Liebert, Karen J P; Schilbach, Katharina; Adams, Michelle; Tritos, Nicholas A; Bidlingmaier, Martin; Nachtigall, Lisa B; Cassorla, F; Roman, R; Johnson, M L; Avila, A; Iñiguez, G; Baier, I; Said, D; Bruchey, A; Smith, C; Brincks, E; McKew, J; Thorner, M O; Pitukcheewanont, P; He, W; Schafer, E C; Brauner, R; Delaney, A; Dunkel, L; Grinspon, R; Hall, J E; Hirschhorn, J N; Howard, S; Latronico, A; Jorge, A A; McElreavey, K; Mericq, V; Merino, P M; Palmert, M R; Rey, R A; Rezende, R C; Seminara, S B; Shaw, N; Delayed Puberty Genetics Consortium, T; Chan, Y M; Ferone, D; Spencer-Segal, J L; Fidan Yaylali, G; Doknic, M; Isaeva, E; Dreval, A; Gilis-Januszewska, A; Gezer, E; Bancos, I; Katznelson, L; Harrie, M; Svedberg, A; Pedroncelli, A M; Tiberg, F; Mehta, S; Havranek, K L; Pacione, D; Yuen, K; Zhang, L; Little, A; Karsy, M; Evans, J J; Kim, W; Benjamin, C; Gardner, P A; Fernandez-Miranda, J C; Zada, G; Rennert, R; Silverstein, J M; Kshettry, V; Chicoine, M; Shih, R; Salcedo, J; Agrawal, N; He, W; Schafer, E C; Brauner, R; Delaney, A; Dunkel, L; Grinspon, R; Hall, J E; Hirschhorn, J N; Howard, S; Latronico, A; Jorge, A A; McElreavey, K; Mericq, V; Merino, P M; Palmert, M R; Rey, R A; Rezende, R C; Seminara, S B; Shaw, N; Delayed Puberty Genetics Consortium, T; Chan, Y M; Gadelha, M; Randeva, H S; Gordon, M B; Doknic, M; Mezosi, E; Toth, M; Boguszewski, C L; Davidson, C; Ferrara-Cook, C T; Casagrande, A; Krasner, A; Alimussina, Malika; Bryce, Jillian; Chen, Minglu; Koley, Sanhita; Al-Agha, Abdulmoein; Amin, Nadia; Atapattu, Navoda; Chen, Jiajia; Deyanova, Yana; Fu, Antony; Gong, Chunxiu; Iotova, Violeta; Janus, Dominika; Jorge, Alexander; Markosyan, Renata; Seneviratne, Sumudu; Guftar Shaikh, M; Shenoy, Savitha; Shepherd, Sheila; Tack, Lloyd; Wasniewska, Malgorzata; Chen, Suet Ching; Faisal Ahmed, S; Aratani, Fernanda Queiroz; Di Matteo, Debora Parreiras; de Magalhães, Isabelle Pinheiro Amaro; Frudit, Paula; Motomia, Lucas Shuiti; Beeby, Stephanie Kallas; Barros, Luciana Rodrigues Carvalho; Bissegatto, Débora Delmonte; Carvalho, Luciani Renata Silveira

International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood

国际共识指南:小于胎龄儿:从婴儿期到成年早期的病因和治疗

Hokken-Koelega, Anita C S; van der Steen, Manouk; Boguszewski, Margaret C S; Cianfarani, Stefano; Dahlgren, Jovanna; Horikawa, Reiko; Mericq, Veronica; Rapaport, Robert; Alherbish, Abdullah; Braslavsky, Debora; Charmandari, Evangelia; Chernausek, Steven D; Cutfield, Wayne S; Dauber, Andrew; Deeb, Asma; Goedegebuure, Wesley J; Hofman, Paul L; Isganatis, Elvira; Jorge, Alexander A; Kanaka-Gantenbein, Christina; Kashimada, Kenichi; Khadilkar, Vaman; Luo, Xiao-Ping; Mathai, Sarah; Nakano, Yuya; Yau, Mabel

The Association of Accelerated Early Growth, Timing of Puberty, and Metabolic Consequences in Children

儿童早期生长加速、青春期发育时间与代谢后果之间的关联

Jee, Youn Hee; Jumani, Sanjay; Mericq, Veronica

New insights from GWAS on BMI-related growth traits in a longitudinal cohort of admixed children with Native American and European ancestry

一项针对具有美洲原住民和欧洲血统的混血儿童纵向队列的全基因组关联研究,揭示了与BMI相关的生长特征的新见解

Vicuña, Lucas; Barrientos, Esteban; Norambuena, Tomás; Alvares, Danilo; Gana, Juan Cristobal; Leiva-Yamaguchi, Valeria; Meza, Cristian; Santos, José L; Mericq, Veronica; Pereira, Ana; Eyheramendy, Susana

Differential methylation pattern in pubertal girls associated with biochemical premature adrenarche

青春期女孩的差异甲基化模式与生化性肾上腺早现有关

Ponce, Diana; Rodríguez, Fernando; Miranda, José P; Binder, Alexandra M; Santos, José L; Michels, Karin B; Cutler, Gordon B Jr; Pereira, Ana; Iñiguez, Germán; Mericq, Verónica

Erythema nodosum associated with COVID19 infection: A pediatric case report and review of the literature

新冠病毒感染相关结节性红斑:一例儿科病例报告及文献综述

Zambrano-Mericq, María José; Lam, Joseph M

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay

p190 RhoGAP、ARHGAP35 和 ARHGAP5 与 GnRH 神经元发育有关:来自特发性促性腺激素功能低下症患者、斑马鱼和体外 GAP 活性测定的证据

Margaret F Lippincott, Wanxue Xu, Abigail A Smith, Xinyu Miao, Agathe Lafont, Omar Shennib, Gordon J Farley, Riwa Sabbagh, Angela Delaney, Maria Stamou, Lacey Plummer, Kathryn Salnikov, Neoklis A Georgopoulos, Veronica Mericq, Richard Quinton, Frederic Tran Mau-Them, Sophie Nambot, Asma Hamad, Helen