Genetics
Resources regarding the HHT-associated genes and how to facilitate genetic testing and counseling for patients and families.
Related Resources
Abstracts – 11th HHT International Scientific Conference (2015)
Scientific Literature – 2015Angiogenesis. This article can be purchased directly from the publisher. Click to view the article description and purchase options.
MoreExecutive Summary – 11th HHT International Scientific Conference (2015)
Scientific Literature – 2015Angiogenesis. Authors: Helen Arthur, Urban Geisthoff, James R. Gossage, Christopher C. W. Hughes, Pascal Lacombe, Mary E. Meek, Paul Oh, Beth L Roman, Scott O. Trerotola, Sebastiaan Velthuis, and Whitney Wooderchak-Donahue. This article can be purcha…
MoreHereditary Hemorrhagic Telangiectasia: Genetics and Molecular Diagnostics in a New Era
Scientific Literature – 2015Frontiers in Genetics. Authors: Jamie McDonald, Whitney Wooderchak-Donahue, Chad VanSant Webb, Kevin Whitehead, David A. Stevenson and Pinar Bayrak-Toydemir. This article is available for public use and does not require purchase. Click to view the fu…
MoreGenetic Testing for HHT
Scientific Literature – 2012JCOM. Author: Barbara A. Bernhardt, MS, CGC. This article is available for public use and does not require purchase. Click to view the full article.
MoreCost Savings through Molecular Diagnosis for HHT
Scientific Literature – 2012Genetics in Medicine. Authors: Barbara A. Bernhardt, Cara Zayac, Scott O. Trerotola, David A. Asch, and Reed E. Pyeritz. This article is available for public use and does not require purchase. Click to view the full article.
MoreHHT: An Overview of Diagnosis, Management and Pathogenesis
Scientific Literature – 2011Genetics in Medicine. Authors: Jamie McDonald, MS, Pinar Bayrak-Toydemir, MD, PhD, and Reed E. Pyeritz, MD, PhD. This article is available for public use and does not require purchase. Click to view the full article.
MoreHereditary Hemorrhagic Telangiectasia: Diagnosis and Management
Scientific Literature – 2010American Family Physician. Author: Scott E. Olitsky. This article is available for public use and does not require purchase. Click to view the full article.
MoreHHT: A Clinical and Scientific Review
Scientific Literature – 2009European Journal of Human Genetics. Authors: Fatima S. Govani and Claire L Shovlin. This article is available for public use and does not require purchase. Click to view the full article.
MoreImaging of Hereditary Hemorrhagic Telangiectasia
Scientific Literature – 2008Cardiovascular and Interventional Radiology. Authors: Marie-France Carette, Cosmina Nedelcu, Marc Tassart, Jean-Didier Grange, Marie Wislez, and Antoine Khalil. This article is available for public use and does not require purchase. Click to view the…
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Juvenile Polyposis and HHT
Article – 2004Duke University links HHT Gene with Juvenile Polyposis. Learn how these two rare diseases are related and how they can lead to stroke. The researchers have linked juvenile polyposis,characterized by numerous intestinal polyps and an increased colon c…
MoreRelated News
HHT in the News: “I have the same rare disease that killed my brother”
February 24 2020 | Independent.ie “As Rare Disease Day falls this Saturday, Katie Woods tells her story of living with HHT – a genetic blood vessel disorder…”
Comprehensive HHT Resource: Living with HHT Book
January 17, 2019
Washington Post Feature: Zina Martinez Story
November 20, 2018
My HHT Tracker iOS App is Ready to Download!
September 28, 2018
Living with HHT Book
May 9, 2018