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

Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant

一名因体细胞获得功能 LHCGR 变异而患双侧 Leydig 细胞肿瘤的男孩出现性早熟

Chelsi Flippo, Vipula Kolli, Melissa Andrew, Seth Berger, Tricia Bhatti, Alison M Boyce, Daniel Casella, Michael T Collins, Emmanuèle Délot, Joseph Devaney, Stephen M Hewitt, Thomas Kolon, Ashwini Mallappa, Perrin C White, Deborah P Merke, Andrew Dauber

Morphologic and Molecular Characterization of Adrenals and Adrenal Rest Affected by Congenital Adrenal Hyperplasia

先天性肾上腺增生症对肾上腺及肾上腺功能的影响的形态学和分子学特征

Vipula Kolli, Isabela Werneck da Cunha, SunA Kim, James R Iben, Ashwini Mallappa, Tianwei Li, Alison Gaynor, Steven L Coon, Martha M Quezado, Deborah P Merke

An improved micro-method for the measurement of steroid profiles by APPI-LC-MS/MS and its use in assessing diurnal effects on steroid concentrations and optimizing the diagnosis and treatment of adrenal insufficiency and CAH

一种改进的 APPI-LC-MS/MS 类固醇谱微量测定方法及其在评估昼夜节律对类固醇浓度的影响以及优化肾上腺功能不全和 CAH 的诊断和治疗中的应用

Brian R Stolze, Verena Gounden, Jianghong Gu, Elizabeth A Elliott, Likhona S Masika, Brent S Abel, Deborah P Merke, Monica C Skarulis, Steven J Soldin

Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia

扩大先天性肾上腺增生症患者的 Ehlers Danlos 综合征的发病范围

Rachel Morissette, Wuyan Chen, Ashley F Perritt, Jennifer L Dreiling, Andrew E Arai, Vandana Sachdev, Hwaida Hannoush, Ashwini Mallappa, Zhi Xu, Nazli B McDonnell, Martha Quezado, Deborah P Merke

Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome

CAH-X 综合征相关肌腱蛋白-X 缺乏症中的转化生长因子-β (TGF-β) 通路异常

Rachel Morissette, Deborah P Merke, Nazli B McDonnell