Search Results - "McDonald, Jamie"

Dynamical evolution of gravitational leptogenesis by McDonald, Jamie I., Shore, Graham M.

“…A bstract Radiatively-induced gravitational leptogenesis is a potential mechanism to ex- plain the observed matter-antimatter asymmetry of the universe…”
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Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis by McDonald, Jamie, Bayrak-Toydemir, Pinar, Pyeritz, Reed E.

“…Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a disorder of development of the vasculature characterized by telangiectases and…”
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Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era by McDonald, Jamie, Wooderchak-Donahue, Whitney, VanSant Webb, Chad, Whitehead, Kevin, Stevenson, David A, Bayrak-Toydemir, Pinar

“…Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectases and arteriovenous malformations (AVMs) in particular…”
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Vitamin D status is associated with relapse rate in pediatric-onset multiple sclerosis by Mowry, Ellen M., Krupp, Lauren B., Milazzo, Maria, Chabas, Dorothee, Strober, Jonathan B., Belman, Anita L., McDonald, Jamie C., Oksenberg, Jorge R., Bacchetti, Peter, Waubant, Emmanuelle

“…Objective We sought to determine if vitamin D status, a risk factor for multiple sclerosis, is associated with the rate of subsequent clinical relapses in…”
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Leptogenesis from loop effects in curved spacetime by McDonald, Jamie I., Shore, Graham M.

“…A bstract We describe a new mechanism — radiatively-induced gravitational leptogenesis — for generating the matter-antimatter asymmetry of the Universe. We…”
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Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia by Bernabeu, Carmelo, Bayrak-Toydemir, Pinar, McDonald, Jamie, Letarte, Michelle

“…Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that presents with telangiectases in skin and mucosae, and arteriovenous…”
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A theory for polymicrogyria and brain arteriovenous malformations in HHT by Klostranec, Jesse M, Chen, Long, Mathur, Shobhit, McDonald, Jamie, Faughnan, Marie E, Ratjen, Felix, Krings, Timo

“…Hereditary hemorrhagic telangiectasia (HHT) is generally considered a disorder of endothelial dysfunction, characterized by the development of multiple…”
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Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation by Wooderchak-Donahue, Whitney L, Johnson, Peter, McDonald, Jamie, Blei, Francine, Berenstein, Alejandro, Sorscher, Michelle, Mayer, Jennifer, Scheuerle, Angela E, Lewis, Tracey, Grimmer, J Fredrik, Richter, Gresham T, Steeves, Marcie A, Lin, Angela E, Stevenson, David A, Bayrak-Toydemir, Pinar

“…RASA1-related disorders are vascular malformation syndromes characterized by hereditary capillary malformations (CM) with or without arteriovenous…”
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Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT) by Whitehead, Kevin J, Toydemir, Doruk, Wooderchak-Donahue, Whitney, Oakley, Gretchen M, McRae, Bryan, Putnam, Angelica, McDonald, Jamie, Bayrak-Toydemir, Pinar

“…Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions of Hereditary Hemorrhagic Telangiectasia (HHT). Somatic second-hit…”
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Gravitational leptogenesis, C, CP and strong equivalence by McDonald, Jamie I., Shore, Graham M.

“…A bstract The origin of matter-antimatter asymmetry is one of the most important outstanding problems at the interface of particle physics and cosmology…”
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Global Policy Barriers and Enablers to Exercise and Physical Activity in Kidney Care by Bennett, Paul N., Kohzuki, Masahiro, Bohm, Clara, Roshanravan, Baback, Bakker, Stephan J.L., Viana, João L., MacRae, Jennifer M., Wilkinson, Thomas J., Wilund, Kenneth R., Van Craenenbroeck, Amaryllis H., Sakkas, Giorgos K., Mustata, Stefan, Fowler, Kevin, McDonald, Jamie, Aleamañy, Geovana Martin, Anding, Kirsten, Avin, Keith G., Escobar, Gabriela Leal, Gabrys, Iwona, Goth, Jill, Isnard, Myriam, Jhamb, Manisha, Kim, Jun Chul, Li, John Wing, Lightfoot, Courtney J., McAdams-DeMarco, Mara, Manfredini, Fabio, Meade, Anthony, Molsted, Stig, Parker, Kristen, Seguri-Orti, Eva, Smith, Alice C., Verdin, Nancy, Zheng, Jing, Zimmerman, Deb, Thompson, Stephanie

“…Impairment in physical function and physical performance leads to decreased independence and health-related quality of life in people living with chronic…”
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Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review by Wain, Karen E., Ellingson, Marissa S., McDonald, Jamie, Gammon, Amanda, Roberts, Maegan, Pichurin, Pavel, Winship, Ingrid, Riegert-Johnson, Douglas L., Weitzel, Jeffrey N., Lindor, Noralane M.

“…Heterozygous loss-of-function SMAD4 mutations are associated with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Some carriers exhibit…”
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Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia by Wooderchak-Donahue, Whitney L, McDonald, Jamie, Farrell, Andrew, Akay, Gulsen, Velinder, Matt, Johnson, Peter, VanSant-Webb, Chad, Margraf, Rebecca, Briggs, Eric, Whitehead, Kevin J, Thomson, Jennifer, Lin, Angela E, Pyeritz, Reed E, Marth, Gabor, Bayrak-Toydemir, Pinar

“…Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder caused by mutations in the genes , , and Yet the genetic cause remains…”
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Multiple sclerosis susceptibility genes: associations with relapse severity and recovery by Mowry, Ellen M, Carey, Robert F, Blasco, Maria R, Pelletier, Jean, Duquette, Pierre, Villoslada, Pablo, Malikova, Irina, Roger, Elaine, Kinkel, R Phillip, McDonald, Jamie, Bacchetti, Peter, Waubant, Emmanuelle

“…Patients with early multiple sclerosis (MS) have stereotyped attack severity and recovery. We sought to determine if polymorphisms in MS susceptibility genes…”
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Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia by Ruiz-Llorente, Lidia, McDonald, Jamie, Wooderchak-Donahue, Whitney, Briggs, Eric, Chesnutt, Mark, Bayrak-Toydemir, Pinar, Bernabeu, Carmelo

“…Hereditary hemorrhagic telangiectasia (HHT) is a vascular disease characterized by nose and gastrointestinal bleeding, telangiectases in skin and mucosa, and…”
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Tissue‐specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families by McDonald, Jamie, Wooderchak‐Donahue, Whitney L., Henderson, Katharine, Paul, Eleri, Morris, Ashley, Bayrak‐Toydemir, Pinar

“…Mosaicism in hemorrhagic telangiectasia (HHT) has been previously identified when testing blood samples of HHT patients. We report the first detection of…”
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A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7 by Bayrak-Toydemir, Pinar, McDonald, Jamie, Akarsu, Nurten, Toydemir, Reha M., Calderon, Fernanda, Tuncali, Timur, Tang, Wei, Miller, Franklin, Mao, Rong

“…Hereditary hemorrhagic telangiectasia (HHT) is a genetically and clinically heterogeneous multisystem vascular dysplasia. Mutations of the endoglin and ACVRL1…”
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Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children by Hodgson, Joshua, Ruiz‐Llorente, Lidia, McDonald, Jamie, Quarrell, Oliver, Ugonna, Kelechi, Bentham, James, Mason, Rebecca, Martin, Jennifer, Moore, David, Bergstrom, Katie, Bayrak‐Toydemir, Pinar, Wooderchak‐Donahue, Whitney, Morrell, Nicholas W., Condliffe, Robin, Bernabeu, Carmelo, Upton, Paul D.

“…Background Disrupted endothelial BMP9/10 signaling may contribute to the pathophysiology of both hereditary hemorrhagic telangiectasia (HHT) and pulmonary…”
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Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT by Kilian, Alexandra, Latino, Giuseppe A, White, Andrew J, Ratjen, Felix, McDonald, Jamie, Whitehead, Kevin J, Gossage, James R, Krings, Timo, Lawton, Michael T, Kim, Helen, Faughnan, Marie E, The Brain Vascular Malformation Consortium Hht Investigator Group

“…Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease characterized by the development of vascular malformations (VMs) in organs…”
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An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia 1 versus hereditary hemorrhagic telangiectasia 2 by Hunter, Benjamin N., Timmins, Benjamin H., McDonald, Jamie, Whitehead, Kevin J., Ward, P. Daniel, Wilson, Kevin F.

“…Objectives/Hypothesis Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia whose hallmark symptom is spontaneous recurrent…”
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