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

Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism

TPO功能域定位:来自苏丹先天性甲状腺功能减退症家族中6个变异体的启示

Islam, Mohammad S; Louzada, Ruy A; Bouviere, Jessica; Ahmed, Amna E; Bernal-Mizrachi, Ernesto; Dumitrescu, Alexandra M; Refetoff, Samuel; Weiss, Roy E

Real or Not Real? An Elevated TSH

真假?促甲状腺激素(TSH)升高。

Sevilla-Alsina, Marla E; Dumitriu Carcoana, Allison O; Yang, Jane Y; McPhaul, Michael J; Islam, Mohammad Saiful; Weiss, Roy E

THRB splice site variants lead to exon 4 skipping and TRβ1 gain-of-function syndrome

THRB剪接位点变异导致外显子4跳跃和TRβ1功能获得综合征

Singh, Deepak K; Zhou, Hongwei; Sherpa, Nyima; Zheng, Xiang Yu; Lomakin, Artem; Razghandi, Pedram; Hunag, Xin; Kadamb, Rama; Shukla, Suryansh; Valencia Salazar, Luis E; Entenberg, David; Zheng, Deyou; Curtis, Christina; Wang, Jianlong; Aguirre-Ghiso, Julio A; Hönes, Georg Sebastian; Liao, Xiao-Hui; Mahler, Elisa Annabelle; Herrmann, Philipp; Eckstein, Anja; Führer, Dagmar; Castillo, Jesus Moreno; Chiang, John; Vincent, Andrea Louise; Weiss, Roy E; Dumitrescu, Alexandra Mihaela; Refetoff, Samuel; Moeller, Lars Christian

SARS-CoV-2 breakthrough infections in a retrospective cohort of vaccinated university students and employees

一项针对已接种疫苗的大学生和员工的回顾性队列研究发现,SARS-CoV-2 突破性感染病例有所增加。

Lemos, Joana R N; Suarez, Maritza; Thomas, Shiby; Alvarez Canedo, Juan C; Gangadhara, Anantha; Reis, David W; Weiss, Roy E

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism

苏丹先天性甲状腺功能减退症家族中pendrin缺陷的患病率

Islam, Mohammad S; Dumitrescu, Alexandra M; Ahmed, Amna; Refetoff, Samuel; Weiss, Roy E

Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients

左甲状腺素和丙硫氧嘧啶联合治疗单羧酸转运蛋白8缺乏症患儿:一项包含12例患者的多中心病例系列研究

Weiss, Roy E; Lemos, Joana R N; Dumitrescu, Alexandra M; Islam, Mohammad S; Hirani, Khemraj; Refetoff, Samuel

Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C)

苏丹两户家庭先天性甲状腺功能减退症患者携带一种新的碘酪氨酸脱碘酶突变(IYD R279C)

Shareef, Reham; Furman, Aryel; Watanabe, Yui; Bruellman, Ryan; Abdullah, Mohammed A; Dumitresu, Alexandra M; Refetoff, Samuel; Bertolini, Andrea; Borsò, Marco; Saba, Alessandro; Zucchi, Riccardo; Weiss, Roy E

Combined Use of RT-qPCR and NGS for Identification and Surveillance of SARS-CoV-2 Variants of Concern in Residual Clinical Laboratory Samples in Miami-Dade County, Florida

在佛罗里达州迈阿密-戴德县,采用RT-qPCR和NGS联合技术对剩余临床实验室样本中的SARS-CoV-2关注变异株进行鉴定和监测。

Carattini, Yamina L; Griswold, Anthony; Williams, Sion; Valiathan, Ranjini; Zhou, Yi; Shukla, Bhavarth; Abbo, Lilian M; Parra, Katiuska; Jorda, Merce; Nimer, Stephen D; Sologon, Corneliu; Gallegos, Hilma R; Weiss, Roy E; Ferreira, Tanira; Memon, Abdul; Paige, Peter G; Thomas, Emmanuel; Andrews, David M

Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation

由MCT8基因突变引起的甲状腺激素细胞膜转运缺陷的产前治疗

Refetoff, Samuel; Pappa, Theodora; Williams, Meredith K; Matheus, M Gisele; Liao, Xiao-Hui; Hansen, Karen; Nicol, Lindsey; Pierce, Melinda; Blasco, Peter A; Wiebers Jensen, Mandie; Bernal, Juan; Weiss, Roy E; Dumitrescu, Alexandra M; LaFranchi, Stephen

Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation

对携带新型甲状腺激素受体α基因(pC380SfsX9)突变的婴儿进行早期诊断和治疗

Furman, Ary E; Dumitrescu, Alexandra M; Refetoff, Samuel; Weiss, Roy E