H C Dietz
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Explore the profile of H C Dietz including associated specialties, affiliations and a list of published articles.
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69
Citations
4686
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Recent Articles
1.
Holmes K, Markwardt S, Eagle K, Devereux R, Weinsaft J, Asch F, et al.
J Am Coll Cardiol
. 2022 May;
79(21):2069-2081.
PMID: 35618343
Background: The GenTAC (Genetically Triggered Thoracic Aortic Aneurysm and Cardiovascular Conditions) Registry enrolled patients with genetic aortopathies between 2007 and 2016. Objectives: The purpose of this study was to compare...
2.
Busnadiego O, Gorbenko Del Blanco D, Gonzalez-Santamaria J, Habashi J, Calderon J, Sandoval P, et al.
J Mol Cell Cardiol
. 2015 May;
85:48-57.
PMID: 25988230
Patients with Marfan syndrome (MFS) are at high risk of life-threatening aortic dissections. The condition is caused by mutations in the gene encoding fibrillin-1, an essential component in the formation...
3.
Holmes K, Maslen C, Kindem M, Kroner B, Song H, Ravekes W, et al.
Am J Med Genet A
. 2013 Feb;
161A(4):779-86.
PMID: 23444191
Previous data suggest women are at increased risk of death from aortic dissection. Therefore, we analyzed data from the GenTAC registry, the NIH-sponsored program that collects information about individuals with...
4.
Cooper T, Zhong Q, Krawczyk M, Tae H, Muller G, Schubert R, et al.
Vet Pathol
. 2010 Jul;
47(6):1028-39.
PMID: 20587693
Vascular Ehlers-Danlos syndrome is a rare genetic disorder resulting from mutations in the α-1 chain of type III collagen (COL3A1) and manifesting as tissue fragility with spontaneous rupture of the...
5.
Loeys B, Gerber E, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, et al.
Sci Transl Med
. 2010 Apr;
2(23):23ra20.
PMID: 20375004
The predisposition for scleroderma, defined as fibrosis and hardening of the skin, is poorly understood. We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is...
6.
Rodrigues V, Elsayed S, Loeys B, Dietz H, Yousem D
AJNR Am J Neuroradiol
. 2009 Jun;
30(8):1614-9.
PMID: 19556353
Background And Purpose: Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations...
7.
Faivre L, Collod-Beroud G, Loeys B, Child A, Binquet C, Gautier E, et al.
Am J Hum Genet
. 2007 Aug;
81(3):454-66.
PMID: 17701892
Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable age at onset...
8.
Ramirez F, Sakai L, Rifkin D, Dietz H
Cell Mol Life Sci
. 2007 Jun;
64(18):2437-46.
PMID: 17585369
Fibrillins are the structural components of extracellular microfibrils that impart physical properties to tissues, alone or together with elastin as elastic fibers. Genetic studies in mice have revealed that fibrillin-rich...
9.
Chung A, Au Yeung K, Cortes S, Sandor G, Judge D, Dietz H, et al.
Br J Pharmacol
. 2007 Mar;
150(8):1075-83.
PMID: 17339838
Background And Purpose: Aortic complications account for the major mortality in Marfan syndrome (MFS), a connective tissue disorder caused by mutations in FBN1 encoding fibrillin-1. We hypothesized that MFS impaired...
10.
Robinson P, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, et al.
J Med Genet
. 2006 Mar;
43(10):769-87.
PMID: 16571647
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene...