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

Near-Adult Height Outcomes in Patients Treated With rhIGF-1 for Severe Growth Failure: Real-World IGFD Registry Data

接受 rhIGF-1 治疗的严重生长障碍患者接近成年身高的结果:真实世界 IGFD 注册研究数据

Ramon-Krauel, Marta; Polak, Michel; Maghnie, Mohamad; Woelfle, Joachim; Sert, Caroline; Perrot, Valérie; Bang, Peter

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

Paediatric-to-adult transition in type 1 diabetes: A two-centre experience of a structured program, 2014 to 2022

型糖尿病儿童向成人过渡:一项结构化项目的两中心经验(2014 年至 2022 年)

Vermillac, Gaëlle; Lafont, Charlotte; Godot, Cécile; Kerbourc'h, Stéphanie; Gazagnes, Agnès Sola; Mosnier-Pudar, Helen; Dehghani, Léa; Mallone, Roberto; Larger, Etienne; Polak, Michel; Dubois-Laforgue, Danièle; Beltrand, Jacques

Long-Acting Growth Hormone Therapy in Pediatric Growth Hormone Deficiency: A Consensus Statement

儿童生长激素缺乏症的长效生长激素疗法:共识声明

Maniatis, Aristides; Cutfield, Wayne; Dattani, Mehul; Deal, Cheri; Collett-Solberg, Paulo Ferrez; Horikawa, Reiko; Maghnie, Mohamad; Miller, Bradley S; Polak, Michel; Sävendahl, Lars; Woelfle, Joachim

SUN-695 Clinical Presentation of a Patient With Hemochromatosis After Bariatric Surgery With HFE (H63D) Mutation

SUN-695 一例伴有HFE(H63D)突变的减肥手术后血色素沉着症患者的临床表现

Pastel, Emilie; Pointud, Jean-Christophe; Volat, Fanny; Martinez, Antoine; Lefrançois-Martinez, Anne-Marie; Nannar, Jaspreet; Tornberg, Toni; Haque, Henna; Dukkipati, Sai Sreenija; Alhaddadin, Robert; Variar, Vivek; Ramesh, Harshita Marasandra; Subramani, Rashmi; Tara, Nain; Anwar, Maheen; Pamula, John V; Ei, Shwe Sin; Karnik, Suruchi Satish; Kowsika, Sree S; Sanu, Kevin Paul; Al-thunaibat, Ahmad; Sidhu, Punerdeep; Abualnil, Aseel; Penaherrera, Carlos; Tran, Deanna H; Carmichael, John D; Angell, Trevor E; Renzu, M; Hubers, C M; mehta, v; Qazi, A; Yerasuri, D K; Omran, Fatema; Bromley, Sarah; Ilahi, Marium; Zena, Mohsen; Al-Refaie, Waddah; Delto, Joan; Preet Singh, Awinder; Shakir, Mohamed K M; Godar, Cassandra M; Piech, Ricard; Duc Hoang, Thanh; Waqar, Fatima; Arif, Ansharah; Muazzam, Asmaa; Wadood, Romaisa; Khakwani, Aemen Shams; Khan, Usman Ahmed; Taylor, Lindsay; Gangnon, Ronald; Powell, Ryan; Kramer, Joseph; Kind, Amy J; Bartels, Christine; Brennan, Meghan B; Hilk, Kelly; Agrawal, Anurag K; Cadenas, Nicola; Roman, Sanziana; Srivastava, Priya S; Yen, Kevin; Lodish, Maya Beth; Aguiari, Paola; Liu, Yan-Yun; Petrosyan, Astgik; Cheng, Sheue-Yann; Brent, Gregory A; Perin, Laura; Milanesi, Anna; Joad, Sabaa Salim; Fang, Mary Emily; Posey, Jennifer E; Gaba, Ruchi; Francis-Emmanuel, Patrice M; Siddique, Rana M; Soong, Elaine; Tauni, Rahat A; Wijenaike, Nishan A; Iwuala, Sandra Omozehio; Kirupakaran, Johnathan; Trusty, Rhonda; Curry, Sumarah; Williams, Belinda; Daruwala, Orpah; Fenton, Franklyn; Bahtiyar, Gul; Rodriguez, Giovanna; Fryer, Anthony; Hancock, Sarah; George, Cherian; Issa, Basil George; Lea, Simon; Powner, Gillian; Waldron, Julian; Golash, Anurag; Hanna, Fahmy W F; Elshimy, Ghada; Correa, Ricardo Rafael; Techathaveewat, Pawarid; Vinales, Karyne Lima; Harman, Sherman Mitchell; Thakkar, Aditi; Trejo-Parades, Maria Camila; Madgula, Anantha Sriharsha; Stevenson, Margaret; Garay, Paola Andrea Sanchez; Restifo, Daniele; Rao, Swathi; Espinoza, Diana; Ionescu, Madalina Liliana; Lichtenberg, Robert; Roux, Enora Le; Menesguen, Florence; Tejedor, Isabelle; Popelier, Marc; Halbron, Marine; Faucher, Pauline; Malivoir, Sabine; Polak, Michel; Poitou, Christine; Touraine, Philippe; Papaleontiou, Maria; Zebrack, Bradley; Reyes-Gastelum, David; Hawley, Sarah T; Hamilton, Ann S; Ward, Kevin C; Haymart, Megan R; Luu, Shannon; Wu, Gloria; Leung, Brian; Momen, Donia; Lau, Chap-Kay K; Pedro, Jorge; Ferreira, Maria João; Salazar, Cristina; Martins, Patrícia; Resende, Carlos Xavier; Pimenta, João Tiago; Varela, Ana; Carvalho, Davide; Baez, Karla; Punjabi, Naresh; La Cruz-Munoz, Nestor De; Bernal-Mizrachi, Ernesto; Varghese, Ron Thomas

A database study of the safety and effectiveness of daily growth hormone in treating more than 80,000 children with growth disorders worldwide: a plain language summary of publication

一项针对全球超过8万名生长障碍儿童的每日生长激素治疗安全性和有效性的数据库研究:出版物简明摘要

Maghnie, Mohamad; Ranke, Michael B; Geffner, Mitchell E; Vlachopapadopoulou, Elpis; Ibáñez, Lourdes; Carlsson, Martin; Cutfield, Wayne; Rooman, Raoul; Gomez, Roy; Wajnrajch, Michael P; Linglart, Agnès; Stawerska, Renata; Clayton, Peter E; Darendeliler, Feyza; Hokken-Koelega, Anita C S; Horikawa, Reiko; Tanaka, Toshiaki; Dörr, Helmuth-Günther; Polak, Michel; Grimberg, Adda

Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges

原发性先天性甲状腺功能减退症的遗传学:三十年来的发现与持续存在的病因学挑战

Stoupa, Athanasia; Carré, Aurore; Polak, Michel; Szinnai, Gabor; Schoenmakers, Nadia

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study

罕见病转诊中心就诊的儿童和青少年妇科问题:一项观察性回顾性队列研究

Cavadias, Iphigénie; Viaud, Magali; Falampin, Marie; Cheikhelard, Alaa; Gueniche, Karinne; Ouallouche, Chloé; Samara-Boustani, Dinane; Bonnet, Damien; Bahi-Buisson, Nadia; Quartier-Dit-Maire, Pierre; Hadj-Rabia, Smaïl; Heidet, Laurence; Allali, Slimane; de Lonlay, Pascale; Amiel, Jeanne; Nabbout, Rima; Moshous, Despina; Cormier-Daire, Valérie; Picard, Arnaud; Desguerre, Isabelle; Sermet-Gaudelus, Isabelle; Pinto, Graziella; Bremond-Gignac, Dominique; Ruemmele, Frank; Girard, Muriel; Abadie, Véronique; James, Syril; Harroche, Annie; Polak, Michel; Da Costa, Sabrina

Safety and Effectiveness of Oral Glyburide Suspension in Neonatal Diabetes Mellitus: French Retrospective Cohort Study

口服格列本脲混悬液治疗新生儿糖尿病的安全性和有效性:法国回顾性队列研究

Ben Rhaiem, Ines; Beltrand, Jacques; Vermillac, Gaëlle; Kariyawasam, Dulanjalee; Geraud, Delphine; Besançon, Alix; Godot, Cécile; Berdugo, Marianne; Bonnard, Adeline Alice; Cavé, Hélène; Nivot-Adamiak, Sylvie; Saade, Marie Béatrice; Ribault, Virginie; Baron, Sabine; Petit-Bibal, Cécile; Dalla-Vale, Fabienne; Bourdet, Karine; Morin, Carole; Donzeau, Aurélie; Gueorguieva, Iva; Souchon, Pierre-François; Nicolino, Marc; Barat, Pascal; Coutant, Régis; Perge, Kevin; Polak, Michel

Adherence and Growth Outcomes in a Large Cohort of Children Treated With Recombinant GH Using a Connected Auto-injector

使用连接式自动注射器对大量接受重组生长激素治疗的儿童进行依从性和生长结果分析

Polak, Michel; Bouhours-Nouet, Natacha; van Dommelen, Paula; Arnaud, Lilian; Berger, Sophie; Castello-Bridoux, Claire; Le Masne, Quentin; Simonin, Mélissande; Untereiner, Raphaël; Jeanbat, Viviane; Koledova, Ekaterina; Tauber, Maithé; Linglart, Agnès