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Molecular Genetics & Genomic Medicine
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August 5, 2020
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease
Fadi I Musfee, Dongchuan Guo, Amélie C Pinard, et al.
American Journal of Medical Genetics. Part A
|
May 14, 2022
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome
Anita Kaw, Kaveeta Kaw, Ellen M Hostetler, et al.
Journal of the American College of Cardiology
|
August 25, 2022
Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease
Ellen S Regalado, Shaine A Morris, Alan C Braverman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 3, 2019
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
Amélie Pinard, Stéphanie Guey, Dongchuan Guo, et al.
Journal of Medical Genetics
|
January 21, 2019
<i>SMAD3</i> pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
Ellen M Hostetler, Ellen S Regalado, Dong-Chuan Guo, et al.
American Journal of Human Genetics
|
April 7, 2018
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections
Dong-Chuan Guo, Ellen S Regalado, Amelie Pinard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 22, 2018
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
Stephanie E Wallace, Ellen S Regalado, Limin Gong, et al.
American Journal of Human Genetics
|
August 30, 2016
Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections
Dong-Chuan Guo, Megan L Grove, Siddharth K Prakash, et al.
Circulation Research
|
February 4, 2016
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections
Dong-chuan Guo, Ellen S Regalado, Limin Gong, et al.
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Search research articles
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Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Molecular Genetics & Genomic Medicine
|
August 5, 2020
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease
Fadi I Musfee, Dongchuan Guo, Amélie C Pinard, et al.
American Journal of Medical Genetics. Part A
|
May 14, 2022
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome
Anita Kaw, Kaveeta Kaw, Ellen M Hostetler, et al.
Journal of the American College of Cardiology
|
August 25, 2022
Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease
Ellen S Regalado, Shaine A Morris, Alan C Braverman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 3, 2019
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
Amélie Pinard, Stéphanie Guey, Dongchuan Guo, et al.
Journal of Medical Genetics
|
January 21, 2019
<i>SMAD3</i> pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
Ellen M Hostetler, Ellen S Regalado, Dong-Chuan Guo, et al.
American Journal of Human Genetics
|
April 7, 2018
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections
Dong-Chuan Guo, Ellen S Regalado, Amelie Pinard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 22, 2018
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
Stephanie E Wallace, Ellen S Regalado, Limin Gong, et al.
American Journal of Human Genetics
|
August 30, 2016
Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections
Dong-Chuan Guo, Megan L Grove, Siddharth K Prakash, et al.
Circulation Research
|
February 4, 2016
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections
Dong-chuan Guo, Ellen S Regalado, Limin Gong, et al.
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of 1