Ellen S Regalado
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Explore the profile of Ellen S Regalado including associated specialties, affiliations and a list of published articles.
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42
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1720
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Recent Articles
1.
Tumulak M, Padilla C, Ongchangco J, Laurino M, Lagarde J, Regalado E, et al.
Genet Med Open
. 2024 Dec;
2:101847.
PMID: 39669607
Purpose: Maple syrup urine disease (MSUD) is a common inborn error of metabolism diagnosed in the Philippines. A family may experience stress, anxiety, sorrow, or feelings of helplessness when a...
2.
Regalado E, Morris S, Braverman A, Hostetler E, De Backer J, Li R, et al.
J Am Coll Cardiol
. 2022 Aug;
80(9):857-869.
PMID: 36007983
Background: Pathogenic variants in 11 genes predispose individuals to heritable thoracic aortic disease (HTAD), but limited data are available to stratify the risk for aortic events associated with these genes....
3.
Murad A, Hill H, Wang Y, Ghannam M, Yang M, Pugh N, et al.
Am J Med Genet A
. 2022 Jan;
188(5):1448-1456.
PMID: 35092149
Spontaneous coronary artery dissection (SCAD) is a potential precipitant of myocardial infarction and sudden death for which the etiology is poorly understood. Mendelian vascular and connective tissue disorders underlying thoracic...
4.
Hanania H, Regalado E, Guo D, Xu L, Demo E, Sallee D, et al.
Circ Genom Precis Med
. 2019 Nov;
12(12):e002626.
PMID: 31731876
No abstract available.
5.
Pinard A, Guey S, Guo D, Cecchi A, Kharas N, Wallace S, et al.
Genet Med
. 2019 Sep;
22(2):427-431.
PMID: 31474762
Purpose: Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority...
6.
Shalhub S, Byers P, Hicks K, Coleman D, Davis F, De Caridi G, et al.
J Vasc Surg
. 2019 Jul;
71(1):149-157.
PMID: 31353273
Objective: Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age....
7.
Shalhub S, Byers P, Hicks K, Charlton-Ouw K, Zarkowsky D, Coleman D, et al.
J Vasc Surg
. 2019 May;
70(5):1543-1554.
PMID: 31126764
Objective: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder owing to pathogenic variants in COL3A1 that lead to impaired type III collagen production. We aim to describe the...
8.
Shalhub S, Regalado E, Guo D, Milewicz D
J Vasc Surg
. 2019 Mar;
70(3):718-723.
PMID: 30871887
Objective: The c.530G>A (p.Arg177Gln) mutation in PRKG1 has been shown to be associated with thoracic aortic aneurysms and dissections. This rare mutation accounts for an estimated 1% of nonsyndromic heritable...
9.
Duan X, Guo D, Regalado E, Shen H, Coselli J, Estrera A, et al.
Eur J Hum Genet
. 2019 Feb;
27(7):1054-1060.
PMID: 30809044
SMAD4 pathogenic variants cause juvenile polyposis (JPS) and hereditary hemorrhagic telangiectasia (HHT), and 40% of affected individuals also have thoracic aortic disease. At the same time, SMAD4 pathogenic variants have...
10.
Hostetler E, Regalado E, Guo D, Hanna N, Arnaud P, Muino-Mosquera L, et al.
J Med Genet
. 2019 Jan;
56(4):252-260.
PMID: 30661052
Background: Pathogenic variants in cause thoracic aortic aneurysms and dissections, along with aneurysms and rupture of other arteries. Here, we examined differences in clinical presentation of aortic events (dissection or...