Publications by authors named "Ellen S Regalado"

39Publications

Do Variants Predispose to Thoracic Aortic Aneurysms and Dissections?

Circ Genom Precis Med 2019 12 15;12(12):e002626. Epub 2019 Nov 15.

Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center (H.L.H., E.S.R., D.-c.G., L.X., D.M.M.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002626DOI Listing
December 2019

The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln).

J Vasc Surg 2019 09 11;70(3):718-723. Epub 2019 Mar 11.

Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Tex.

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http://dx.doi.org/10.1016/j.jvs.2018.12.032DOI Listing
September 2019

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

Eur J Hum Genet 2019 07 26;27(7):1054-1060. Epub 2019 Feb 26.

Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, USA.

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http://dx.doi.org/10.1038/s41431-019-0357-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777456PMC
July 2019

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

Dev Cell 2018 04;45(2):226-244.e8

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2018.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920516PMC
April 2018

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

Am J Hum Genet 2016 09 25;99(3):762-769. Epub 2016 Aug 25.

Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011062PMC
September 2016

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Circ Res 2016 Mar 12;118(6):928-34. Epub 2016 Jan 12.

From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.).

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http://dx.doi.org/10.1161/CIRCRESAHA.115.307130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839295PMC
March 2016

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Hum Mutat 2015 Dec 10;36(12):1145-9. Epub 2015 Sep 10.

Department of Clinical Genetics, Center for Connective Tissue Research, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22854DOI Listing
December 2015

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

Circ Cardiovasc Genet 2015 Jun 10;8(3):457-64. Epub 2015 Mar 10.

Departments of Internal Medicine (E.S.R., D.G., S.P., T.A.B., K.F., D.M.M.), Cardiothoracic and Vascular Surgery (A.E., H.S.), University of Texas Health Science Center at Houston; Department of Medicine, Stanford University Medical Center, CA (D.L.); Connective Tissue Gene Tests, Allentown, PA (J.H.); Department of Cardiac and Vascular Sciences, St. George's, University of London, London, United Kingdom (A.C., G.A.); AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France (C.B., G.J.), Université Paris 7, Paris, France (C.B., G.J.), AP-HP, Hôpital Bichat, Laboratoire de Génétique moléculaire, Boulogne, France (C.B.), and INSERM, U1148, Paris, France (C.B., G.J.); AP-HP, Hôpital Bichat, Service de Cardiologie, Paris, France (G.J.); Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO (A.B.); Genomic Medicine Institute, Cleveland Clinic, OH (R.M.); Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan (T.M., H.M.); Perelman School of Medicine, University of Pennsylvania, Philadelphia (R.P.); Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX (J.C., S.L.); and Texas Heart Institute and Baylor St. Luke's Medical Center, Houston (J.C., S.L.).

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http://dx.doi.org/10.1161/CIRCGENETICS.114.000943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601641PMC
June 2015

RNF213 rare variants in an ethnically diverse population with Moyamoya disease.

Stroke 2014 Nov 2;45(11):3200-7. Epub 2014 Oct 2.

From the Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston (A.C.C., D.G., Z.R., K.F., E.S.R., H.P., D.M.M.); Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L., G.T.W.); Department of Genome Sciences (J.S., M.J.B., D.A.N.) and Department of Pediatrics (M.J.B.), University of Washington, Seattle; Department of Neurosurgery, Stanford University, CA (G.K.S.); and Clinical Innovation and Research Institute, Memorial Hermann Hospital, Houston, TX (J.C.G.).

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http://dx.doi.org/10.1161/STROKEAHA.114.006244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4420622PMC
November 2014

Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?

J Thorac Cardiovasc Surg 2015 Feb 5;149(2 Suppl):S3-5. Epub 2014 Aug 5.

John Ritter Research Program in Aortic and Vascular Diseases, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Tex.

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http://dx.doi.org/10.1016/j.jtcvs.2014.07.070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354949PMC
February 2015

Acute aortic dissections with pregnancy in women with ACTA2 mutations.

Am J Med Genet A 2014 Jan 15;164A(1):106-12. Epub 2013 Nov 15.

Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.36208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4012224PMC
January 2014

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

Trends Cardiovasc Med 2014 Feb 15;24(2):53-60. Epub 2013 Aug 15.

Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston (UT Health), 6431 Fannin, Suite 6.100, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.tcm.2013.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917689PMC
February 2014

Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative gene.

J Thorac Cardiovasc Surg 2010 Dec;140(6 Suppl):S2-4; discussion S45-51

Department of Internal Medicine, the University of Texas Health Science Center at Houston, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.jtcvs.2010.07.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584588PMC
December 2010

Diffuse and uncontrolled vascular smooth muscle cell proliferation in rapidly progressing pediatric moyamoya disease.

J Neurosurg Pediatr 2010 Sep;6(3):244-9

Department of Internal Medicine, University of Texas Health Science Center, Houston, Texas 77030, USA

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http://dx.doi.org/10.3171/2010.5.PEDS09505DOI Listing
September 2010

Genetic testing in aortic aneurysm disease: PRO.

Cardiol Clin 2010 May;28(2):191-7

Department of Internal Medicine, University of Texas Health Science Center at Houston, 6431 Fannin Street MSB 6.100, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ccl.2010.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3615454PMC
May 2010

Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy.

Genet Med 2010 Apr;12(4):196-203

From the Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181cdd687DOI Listing
April 2010