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

Cluster analysis reveals the clinical spectrum of Erdheim-Chester disease

聚类分析揭示了埃尔德海姆-切斯特病的临床谱。

Tesi, Michelangelo; Pegoraro, Francesco; Peyronel, Francesco; Emile, Jean-François; Catamerò, Francesco; Koster, Matthew J; Goyal, Gaurav; Collin, Matthew; Milne, Paul; Boussouar, Samia; Cohen-Aubart, Fleur; Papo, Matthias; Amoura, Zahir; Estrada-Veras, Juvianee I; O'Brien, Kevin; Razanamahery, Jerome; Goulabchand, Radjiv; Idbaih, Ahmed; de Menthon, Mathilde; Gensous, Noemie; Aouba, Achille; Ledoult, Emmanuel; Le Scornet, Tanguy; Néel, Antoine; Go, Ronald S; Mazor, Roei D; Campochiaro, Corrado; Dagna, Lorenzo; Diamond, Eli L; Vaglio, Augusto; Haroche, Julien

Lynch Syndrome in Focus: A Multidisciplinary Review of Cancer Risk, Clinical Management, and Special Populations

聚焦林奇综合征:癌症风险、临床管理和特殊人群的多学科综述

Eroglu, Seyma; Birsenogul, Ilhan; Bowen, Alexandra P; Doyle, Joseph F; Pupkin, Stephen E; Villar, Joaquin; Tarney, Christopher M; Gandia, Edwin; Pastor, Danielle M; Estrada-Veras, Juvianee I

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

TRIM71 基因突变会导致以脑室扩大和脑积水为特征的神经发育综合征

Duy Phan Q, Jux Bettina, Zhao Shujuan, Mekbib Kedous Y, Dennis Evan, Dong Weilai, Nelson-Williams Carol, Mehta Neel H, Shohfi John P, Juusola Jane, Allington Garrett, Smith Hannah, Marlin Sandrine, Belhous Kahina, Monteleone Berrin, Schaefer G Bradley, Pisarska Margareta D, Vásquez Jaime, Estrada-Veras Juvianee I, Keren Boris, Mignot Cyril, Flore Leigh A, Palafoll Irene V, Alper Seth L, Lifton Richard P, Haider Shozeb, Moreno-De-Luca Andres, Jin Sheng Chih, Kolanus Waldemar, Kahle Kristopher T

Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease

全基因组关联研究发现首个与埃尔德海姆-切斯特病相关的种系遗传变异

Martínez-López, Javier; Márquez, Ana; Pegoraro, Francesco; Ortiz-Fernández, Lourdes; Acosta-Herrera, Marialbert; Kerick, Martin; Gelain, Elena; Diamond, Eli L; Durham, Benjamin H; Abdel-Wahab, Omar; Go, Ronald S; Koster, Matthew J; Dagna, Lorenzo; Campochiaro, Corrado; Collin, Matthew; Milne, Paul; Estrada-Veras, Juvianee I; O'Brien, Kevin; Papo, Matthias; Cohen-Aubar, Fleur; Amoura, Zahir; Haroche, Julien; Martín, Javier; Vaglio, Augusto

Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentation

累及肌腱和肌肉的埃尔德海姆-切斯特病:罕见病例报告

Golagha, Mahshid; Dehghani Firouzabadi, Fatemeh; Millo, Corina; Nikpanah, Moozhan; Ahlman, Mark A; Dave, Rahul H; Estrada-Veras, Juvianee I; O'Brien, Kevin; Malayeri, Ashkan A

Corrigendum to "Erdheim-Chester disease with tendon and muscle involvement: Reports of a rare presentation" [Radiology Case Reports 19 (2024) 1866-1871]

对“Erdheim-Chester 病伴肌腱和肌肉受累:罕见病例报告”的更正[放射学病例报告 19 (2024) 1866-1871]

Golagha, Mahshid; Firouzabadi, Fatemeh Dehghani; Millo, Corina; Nikpanah, Moozhan; Ahlman, Mark A; Dave, Rahul H; Estrada-Veras, Juvianee I; O'Brien, Kevin; Malayeri, Ashkan A

Survivorship Issues in Adult Patients With Histiocytic Neoplasms

成人组织细胞肿瘤患者的生存问题

O'Brien, Kevin; Dave, Rahul; Shekhar, Skand; Hannah-Shmouni, Fady; Comis, Leora E; Solomon, Beth I; Chen, Marcus; Gahl, William A; FitzGibbon, Edmond; Gochuico, Bernadette R; Estrada-Veras, Juvianee I

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

KARS1基因的双等位基因变异与神经发育障碍和听力损失相关,这种现象在斑马鱼基因敲除模型中得到了重现。

Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T; Aubertin, Gudrun; Estrada-Veras, Juvianee I; Hernández, Héctor Adrián Díaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z; Mora, Sara; Palculict, Timothy B; Yang, Hui; Wren, Jonathan D; Ben Fowler; Joshi, Manali; Behra, Martine; Burgess, Shawn M; Nath, Swapan K; Hanna, Michael G; Kenna, Margaret; Merritt, J Lawrence 2nd; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S; Haaf, Thomas; Alkuraya, Fowzan S; Gleeson, Joseph G; Varshney, Gaurav K

Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim-Chester Disease

Erdheim-Chester病中的垂体影像学异常及相关内分泌疾病

Shekhar, Skand; Irizarry-Caro, Jorge A; Sinaii, Ninet; Gahl, William A; Estrada-Veras, Juvianee I; Dave, Rahul H; Gochuico, Bernadette R; Papadakis, Georgios Z; Patronas, Nicholas; Stratakis, Constantine A; O'Brien, Kevin; Hannah-Shmouni, Fady

Abnormal Pituitary Imaging and Associated Endocrine Dysfunctions in Erdheim-Chester Disease

Erdheim-Chester病中垂体影像异常及相关内分泌功能障碍

Brown, Teresa V; Cheesman, Khadeen C; Post, Kalmon D; Shekhar, Skand; Irizarry-Caro, Jorge A; Sinaii, Ninet; Gahl, William; Estrada-Veras, Juvianee I; Dave, Rahul; Papadakis, Georgios Z; Patronas, Nicholas; Stratakis, Constantine A; O’Brien, Kevin; Hannah-Shmouni, Fady