Search filters

List of works by Ellen S Regalado

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

scientific article

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

scientific article published on 12 January 2016

MAT2A mutations predispose individuals to thoracic aortic aneurysms

scientific article

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

scientific article

RNF213 rare variants in an ethnically diverse population with Moyamoya disease

scientific article published on 2 October 2014

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

scientific article published on August 2013

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections

scientific article

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

scientific article

Paulina is supported by:

About Paulina

Help