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

Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human GH: 3-year Response

使用重组人生长激素治疗聚集蛋白聚糖缺乏症患者的矮小症：3 年疗效

期刊:Journal of the Endocrine Society
影响因子:3.1
doi:10.1210/jendso/bvae177
Muthuvel, Gajanthan; Dauber, Andrew; Alexandrou, Eirene; Tyzinski, Leah; Hwa, Vivian; Backeljauw, Philippe
Human
免疫/内分泌
发表日期：2024
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Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response

使用重组人生长激素治疗聚集蛋白聚糖缺乏症患者的矮小症：1 年疗效

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgab904
Muthuvel, Gajanthan; Dauber, Andrew; Alexandrou, Eirene; Tyzinski, Leah; Andrew, Melissa; Hwa, Vivian; Backeljauw, Philippe
Human
免疫/内分泌
发表日期：2022
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Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings

三名幼童因STAT5B缺陷而出现发育适应性免疫缺陷

期刊:Journal of Clinical Immunology
影响因子:5.7
doi:10.1007/s10875-020-00884-6
Foley, Corinne L; Al Remeithi, Sareea S; Towe, Christopher T; Dauber, Andrew; Backeljauw, Philippe F; Tyzinski, Leah; Kumar, Ashish R; Hwa, Vivian
JAK/STAT
发育与干细胞
免疫/内分泌
发表日期：2021
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Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome

算法驱动的电子健康记录通知增强了特纳综合征的检测

期刊:Journal of Pediatrics
影响因子:3.5
doi:10.1016/j.jpeds.2019.09.023
Alexandrou, Eirene; Cabrera-Salcedo, Catalina; Labilloy, Guillaume; Tyzinski, Leah; Smolarek, Teresa A; Andrew, Melissa; Huang, Yongbo; Backeljauw, Philippe; Dauber, Andrew
发表日期：2020
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Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels

通过对电子健康记录和基因组学的定向搜索，确定了三名身材矮小且IGF-I水平高的患者的病因。

期刊:Hormone Research in Paediatrics
影响因子:2.7
doi:10.1159/000504884
Cabrera-Salcedo, Catalina; Hawkes, Colin P; Tyzinski, Leah; Andrew, Melissa; Labilloy, Guillaume; Campos, Diego; Feld, Amalia; Deodati, Annalisa; Hwa, Vivian; Hirschhorn, Joel N; Grimberg, Adda; Dauber, Andrew
发表日期：2019
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OR07-6 Integrating Targeted Bioinformatic Searches of the Electronic Health Records and Genomic Testing Identifies a Molecular Diagnosis in Three Patients with Undiagnosed Short Stature

OR07-6 整合电子健康记录的靶向生物信息学搜索和基因组检测，为三名未确诊的矮小症患者确定了分子诊断

期刊:
影响因子:
doi:10.4137/GRSB.S9852
Bionaz, Massimo; Loor, Juan J; Cabrera Salcedo, Catalina; Labilloy, Guillaume; Andrew, Shayne; Hwa, Vivian; Tyzinski, Leah; Grimberg, Adda; Hawkes, Colin; Hirschhorn, Joel; Dauber, Andrew
发表日期：2019
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Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density

PAPP-A2 缺乏症患者体内 IGF-1 的药代动力学、生长反应及其对葡萄糖和骨密度的影响

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/jc.2017-01411
Cabrera-Salcedo, Catalina; Mizuno, Tomoyuki; Tyzinski, Leah; Andrew, Melissa; Vinks, Alexander A; Frystyk, Jan; Wasserman, Halley; Gordon, Catherine M; Hwa, Vivian; Backeljauw, Philippe; Dauber, Andrew
APP
IGF-1
发表日期：2017
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Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

由聚集蛋白聚糖突变引起的常染色体显性遗传性矮小症患者的临床特征

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/jc.2016-3313
Gkourogianni, Alexandra; Andrew, Melissa; Tyzinski, Leah; Crocker, Melissa; Douglas, Jessica; Dunbar, Nancy; Fairchild, Jan; Funari, Mariana F A; Heath, Karen E; Jorge, Alexander A L; Kurtzman, Tracey; LaFranchi, Stephen; Lalani, Seema; Lebl, Jan; Lin, Yuezhen; Los, Evan; Newbern, Dorothee; Nowak, Catherine; Olson, Micah; Popovic, Jadranka; Pruhová, Štepánka; Elblova, Lenka; Quintos, Jose Bernardo; Segerlund, Emma; Sentchordi, Lucia; Shinawi, Marwan; Stattin, Eva-Lena; Swartz, Jonathan; Angel, Ariadna González Del; Cuéllar, Sinhué Diaz; Hosono, Hidekazu; Sanchez-Lara, Pedro A; Hwa, Vivian; Baron, Jeffrey; Nilsson, Ola; Dauber, Andrew
发表日期：2017
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Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family

由GH1基因R183H突变引起的孤立性生长激素缺乏症：四代家族的临床分析

期刊:Clinical Endocrinology
影响因子:2.4
doi:10.1111/cen.13400
Cabrera-Salcedo, Catalina; Shah, Amy S; Andrew, Melissa; Tyzinski, Leah; Hwa, Vivian; Gutmark-Little, Iris; Backeljauw, Philippe; Dauber, Andrew
免疫/内分泌
发表日期：2017
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