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

Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele

病例报告:一家族性遗传性出血性毛细血管扩张症和肺动脉高压患者中发现一种新的纯合ACVRL1错义变异:研究结果提示为低活性等位基因

Mathavan, Akash; Mathavan, Akshay; Krekora, Urszula; Rao, Adityanarayan; Zumberg, Marc S; Justice, Jeb; Bayrak-Toydemir, Pinar; McDonald, Jamie; Ataya, Ali

Prevalence, Demographic, and Clinical Factors Associated With Cognitive Dysfunction in Patients With Neuromyelitis Optica Spectrum Disorder

视神经脊髓炎谱系障碍患者认知功能障碍的患病率、人口统计学和临床因素

Vlahovic, Luka; McDonald, Jamie; Hinman, Jessica; Tomczak, Anna; Lock, Christopher; Palmer, Chella A; Cook, Lawrence J; Yeaman, Michael R; Burnett, Melinda K; Deutsch, Gayle K; Nelson, Lorene M; Han, May H

Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT)

遗传性出血性毛细血管扩张症(HHT)中毛细血管扩张和实体器官动静脉畸形形成的遗传决定因素研究

Whitehead, Kevin J; Toydemir, Doruk; Wooderchak-Donahue, Whitney; Oakley, Gretchen M; McRae, Bryan; Putnam, Angelica; McDonald, Jamie; Bayrak-Toydemir, Pinar

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1

ACMG/AMP遗传性出血性毛细血管扩张症基因变异注释指南规范-ENG和ACVRL1

DeMille, Desiree; McDonald, Jamie; Bernabeu, Carmelo; Racher, Hilary; Olivieri, Carla; Cantarini, Claudia; Sbalchiero, Anna; Thompson, Bryony A; Jovine, Luca; Shovlin, Claire L; Dupuis-Girod, Sophie; Lesca, Gaetan; Tusseau, Maud; Ganguly, Arupa; Kasthuri, Raj S; Jessen, Jaime; Massink, Maarten P G; Ichikawa, Shoji; Bayrak-Toydemir, Pinar

Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT

比较患有遗传性出血性毛细血管扩张症(HHT)的儿童和成人脑血管畸形的特征和治疗方法。

Kilian, Alexandra; Latino, Giuseppe A; White, Andrew J; Ratjen, Felix; McDonald, Jamie; Whitehead, Kevin J; Gossage, James R; Krings, Timo; Lawton, Michael T; Kim, Helen; Faughnan, Marie E; The Brain Vascular Malformation Consortium Hht Investigator Group

Reply to Eker et al. Comment on "Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. J. Clin. Med. 2023, 12, 2704"

回复 Eker 等人对“Kilian 等人,《比较患有 HHT 的儿童和成人脑血管畸形的特征和治疗》,《临床医学杂志》,2023 年,12,2704”一文的评论

Kilian, Alexandra; Latino, Giuseppe A; White, Andrew J; Ratjen, Felix; McDonald, Jamie; Whitehead, Kevin J; Gossage, James R; Krings, Timo; Lawton, Michael T; Kim, Helen; Faughnan, Marie E; The Brain Vascular Malformation Consortium Hht Investigator Group

A rare neuromyelitis optica mimic: Primary CNS histiocytic sarcoma

一种罕见的视神经脊髓炎模拟疾病:原发性中枢神经系统组织细胞肉瘤

Rogawski, David S; Nirschl, Jeffrey J; McDonald, Jamie; Nie, Esther; Schwartz, Nicholas U; Vogel, Hannes; Scott, Brian J; Gold, Carl A; Kipp, Lucas B

Global Policy Barriers and Enablers to Exercise and Physical Activity in Kidney Care

全球政策障碍和促进因素:肾脏护理中的运动和身体活动

Bennett, Paul N; Kohzuki, Masahiro; Bohm, Clara; Roshanravan, Baback; Bakker, Stephan J L; Viana, João L; MacRae, Jennifer M; Wilkinson, Thomas J; Wilund, Kenneth R; Van Craenenbroeck, Amaryllis H; Sakkas, Giorgos K; Mustata, Stefan; Fowler, Kevin; McDonald, Jamie; Aleamañy, Geovana Martin; Anding, Kirsten; Avin, Keith G; Escobar, Gabriela Leal; Gabrys, Iwona; Goth, Jill; Isnard, Myriam; Jhamb, Manisha; Kim, Jun Chul; Li, John Wing; Lightfoot, Courtney J; McAdams-DeMarco, Mara; Manfredini, Fabio; Meade, Anthony; Molsted, Stig; Parker, Kristen; Seguri-Orti, Eva; Smith, Alice C; Verdin, Nancy; Zheng, Jing; Zimmerman, Deb; Thompson, Stephanie

Pulmonary Arteriovenous Malformations: What the Interventional Radiologist Should Know

肺动静脉畸形:介入放射科医生应该了解什么

Kaufman, Claire S; McDonald, Jamie; Balch, Heather; Whitehead, Kevin

Genotype-Phenotype Correlations in Children with HHT

遗传性出血性毛细血管扩张症患儿的基因型-表型相关性

Kilian, Alexandra; Latino, Giuseppe A; White, Andrew J; Clark, Dewi; Chakinala, Murali M; Ratjen, Felix; McDonald, Jamie; Whitehead, Kevin; Gossage, James R; Lin, Doris; Henderson, Katharine; Pollak, Jeffrey; McWilliams, Justin P; Kim, Helen; Lawton, Michael T; Faughnan, Marie E