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

Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease

与患有枫糖尿症的儿童共同生活:菲律宾父母面临的心理社会问题

Tumulak, Ma-Am Joy R; Padilla, Carmencita D; Ongchangco, Jose Carlo E; Laurino, Mercy Y; Lagarde, John Benedict B; Regalado, Ellen S; Legaspi, Augusto V; Ventura, Elizabeth R

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

CHD4、CNOT3 和 SETD5 基因新发变异相关的多效性也延伸至烟雾病。

Pinard, Amélie; Guey, Stéphanie; Guo, Dongchuan; Cecchi, Alana C; Kharas, Natasha; Wallace, Stephanie; Regalado, Ellen S; Hostetler, Ellen M; Sharrief, Anjail Z; Bergametti, Françoise; Kossorotoff, Manoelle; Hervé, Dominique; Kraemer, Markus; Bamshad, Michael J; Nickerson, Deborah A; Smith, Edward R; Tournier-Lasserve, Elisabeth; Milewicz, Dianna M

A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis

血管型埃勒斯-当洛斯综合征诊断的多机构经验

Shalhub, Sherene; Byers, Peter H; Hicks, Kelli L; Coleman, Dawn M; Davis, Frank M; De Caridi, Giovanni; Weaver, K Nicole; Miller, Erin M; Schermerhorn, Marc L; Shean, Katie; Oderich, Gustavo; Ribeiro, Mauricio; Nishikawa, Cole; Charlton-Ouw, Kristofer; Behrendt, Christian-Alexander; Debus, E Sebastian; von Kodolitsch, Yskert; Zarkowsky, Devin; Powell, Richard J; Pepin, Melanie; Milewicz, Dianna M; Regalado, Ellen S; Lawrence, Peter F; Woo, Karen

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

MYLK致病变异与主动脉疾病表现、妊娠风险及致病性错义变异的特征

Wallace, Stephanie E; Regalado, Ellen S; Gong, Limin; Janda, Alexandra L; Guo, Dong-Chuan; Russo, Claudio F; Kulmacz, Richard J; Hanna, Nadine; Jondeau, Guillaume; Boileau, Catherine; Arnaud, Pauline; Lee, Kwanghyuk; Leal, Suzanne M; Hannuksela, Matias; Carlberg, Bo; Johnston, Tami; Antolik, Christian; Hostetler, Ellen M; Colombo, Roberto; Milewicz, Dianna M

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

SMAD4 罕见变异与胸主动脉瘤和夹层患者及家族相关

Duan, Xue-Yan; Guo, Dong-Chuan; Regalado, Ellen S; Shen, Hong; Coselli, Joseph S; Estrera, Anthony L; Safi, Hazim J; Bamshad, Michael J; Nickerson, Deborah A; LeMaire, Scott A; De Backer, Julie; Milewicz, Dianna M

A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome

一项关于基因确诊的血管型埃勒斯-当洛斯综合征患者的主动脉和动脉病理的多中心研究

Shalhub, Sherene; Byers, Peter H; Hicks, Kelli L; Charlton-Ouw, Kristofer; Zarkowsky, Devin; Coleman, Dawn M; Davis, Frank M; Regalado, Ellen S; De Caridi, Giovanni; Weaver, K Nicole; Miller, Erin M; Schermerhorn, Marc L; Shean, Katie; Oderich, Gustavo; Ribeiro, Mauricio; Nishikawa, Cole; Behrendt, Christian-Alexander; Debus, E Sebastian; von Kodolitsch, Yskert; Powell, Richard J; Pepin, Melanie; Milewicz, Dianna M; Lawrence, Peter F; Woo, Karen

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

LTBP3致病变异使个体易患胸主动脉瘤和夹层

Guo, Dong-Chuan; Regalado, Ellen S; Pinard, Amelie; Chen, Jiyuan; Lee, Kwanghyuk; Rigelsky, Christina; Zilberberg, Lior; Hostetler, Ellen M; Aldred, Micheala; Wallace, Stephanie E; Prakash, Siddharth K; Leal, Suzanne M; Bamshad, Michael J; Nickerson, Deborah A; Natowicz, Marvin; Rifkin, Daniel B; Milewicz, Dianna M

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

ACTA2 精氨酸 179 改变引起的平滑肌功能障碍综合征的临床病史和治疗建议

Regalado, Ellen S; Mellor-Crummey, Lauren; De Backer, Julie; Braverman, Alan C; Ades, Lesley; Benedict, Susan; Bradley, Timothy J; Brickner, M Elizabeth; Chatfield, Kathryn C; Child, Anne; Feist, Cori; Holmes, Kathryn W; Iannucci, Glen; Lorenz, Birgit; Mark, Paul; Morisaki, Takayuki; Morisaki, Hiroko; Morris, Shaine A; Mitchell, Anna L; Ostergaard, John R; Richer, Julie; Sallee, Denver; Shalhub, Sherene; Tekin, Mustafa; Estrera, Anthony; Musolino, Patricia; Yetman, Anji; Pyeritz, Reed; Milewicz, Dianna M

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

LOX基因突变易导致胸主动脉瘤和夹层

Guo, Dong-chuan; Regalado, Ellen S; Gong, Limin; Duan, Xueyan; Santos-Cortez, Regie Lyn P; Arnaud, Pauline; Ren, Zhao; Cai, Bo; Hostetler, Ellen M; Moran, Rocio; Liang, David; Estrera, Anthony; Safi, Hazim J; Leal, Suzanne M; Bamshad, Michael J; Shendure, Jay; Nickerson, Deborah A; Jondeau, Guillaume; Boileau, Catherine; Milewicz, Dianna M

Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections

LRP1和ULK4基因变异与急性主动脉夹层相关

Guo, Dong-Chuan; Grove, Megan L; Prakash, Siddharth K; Eriksson, Per; Hostetler, Ellen M; LeMaire, Scott A; Body, Simon C; Shalhub, Sherene; Estrera, Anthony L; Safi, Hazim J; Regalado, Ellen S; Zhou, Wei; Mathis, Michael R; Eagle, Kim A; Yang, Bo; Willer, Cristen J; Boerwinkle, Eric; Milewicz, Dianna M