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

Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial

每周一次使用萘培格里肽治疗软骨发育不全患儿:APPROACH随机临床试验

Savarirayan, Ravi; McDonnell, Ciara; Bacino, Carlos A; Hoernschemeyer, Daniel G; Legare, Janet M; Abuzzahab, M Jennifer; Hofman, Paul L; Campeau, Philippe M; de Bergua Domingo, Josep Maria; Ward, Leanne M; Smit, Kevin; Smith, Alden; Mao, Meng; Ominsky, Michael S; Freiberg, Lærke C; Shu, Aimee D; Hove, Hanne B

Qualitative Research in Children and Parents of Children with Achondroplasia to Evaluate the Content Validity of Multiple Clinical Outcome Assessments

对软骨发育不全患儿及其父母进行定性研究,以评估多种临床结果评估的内容效度

Hoover-Fong, Julie E; Savarirayan, Ravi; Alves, Inês; Crews, Chandler; Haider, Amer; Iruretagoyena, Susana Noval; Grumet, Anne; Colwell, Hilary H; Rogoff, Daniela; Muslimova, Elena; Mathias, Susan D

An overview of the International Consensus Statement on achondroplasia

关于软骨发育不全的国际共识声明概述

Alves, Inês; Fredwall, Svein Otto; Hughes, Michael; Ireland, Penelope J; Kaisermann, Morrys C; Savarirayan, Ravi

Effect of vosoritide on genu varum in children with achondroplasia after 1 year in randomized placebo-controlled trials

随机安慰剂对照试验中,沃索利肽治疗1年后对软骨发育不全患儿膝内翻的影响

White, Klane K; Irving, Melita; Mukherjee, Swati; Rivat, Christine; Sabir, Ian; Dee, Anne; Savarirayan, Ravi

Effect of vosoritide on spine morphology in children with achondroplasia: 1-year results from a randomized phase 2 study

沃索利肽对软骨发育不全患儿脊柱形态的影响:一项随机 II 期研究的 1 年结果

Irving, Melita; Savarirayan, Ravi; Hoover-Fong, Julie E; Dee, Anne; Mukherjee, Swati; Rivat, Christine; Sabir, Ian; White, Klane K

Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve)

对软骨发育不全患儿的纵向观察:一项全球自然史研究(ACHieve)的发现

McDonnell, Ciara; Hove, Hanne Buciek; Irving, Melita; White, Klane K; Fontecha, Cesar G; Legare, Janet M; Högler, Wolfgang; Hoernschemeyer, Daniel G; Schnabel, Dirk; Unger, Sheila; Bacino, Carlos Alberto; Hofman, Paul; Yu, Yongguo; Ma, Huamei; Gong, Chunxiu; Luo, Xiaoping; Burrow, T Andrew; Baujat, Geneviève; Mora, Stefano; Fiscaletti, Melissa; Zhao, Carol; Makara, Michael A; Shu, Aimee D; Savarirayan, Ravi

Physiologic variation in sperm miRNAs tune embryonic gene regulatory programs and developmental outcomes

精子 miRNA 的生理变异调节胚胎基因调控程序和发育结果

Lee, Grace S; Garifallou, James; Higgins, Samantha L; Scaturro, Katherine Z; Harman, Adele; Miller-Ensminger, Taylor; Lamonica, Madeline N; Savarirayan, Liana; Golding, Michael C; Conine, Colin C

SUN-745 "We Live in an Average Height World": Perspectives of People with Short Stature Skeletal Dysplasia on Nutrition, Weight and Physical Movement

SUN-745 “我们生活在一个平均身高的世界”:矮小骨骼发育不良患者对营养、体重和身体活动的看法

Arensberg, Mary Beth; Brunton, Cory; Drawert, Susan; Richardson, Brenda; Billich, Natassja; Ledang, Johanne K; Raj, Supriya; Fredwall, Svein O; Tuohy, Maeve; Ireland, Penelope; Savarirayan, Ravi

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

缩小诊断差距:外显子组阴性智力障碍队列的基因组、表观遗传特征、长读长测序和卫生经济学分析

Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Adès, Lesley C; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J; Pérez-Jurado, Luis A; Krzesinski, Emma; Hunter, Matthew F; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W; Cliffe, Corrina; Elakis, George; Kirk, Edwin P; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J; Field, Michael; Sadikovic, Bekim; Buckley, Michael F; O'Donnell-Luria, Anne; Roscioli, Tony

Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model

利用群体药代动力学模型开发沃索利肽治疗软骨发育不全患儿的体重分级给药方案

Qi, Yulan; Chan, Ming Liang; Mould, Diane R; Larimore, Kevin; Fisheleva, Elena; Cherukuri, Anu; Day, Jonathan; Savarirayan, Ravi; Irving, Melita; Bacino, Carlos A; Hoover-Fong, Julie; Ozono, Keiichi; Mohnike, Klaus; Wilcox, William R; Bober, Michael B; Henshaw, Joshua