Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

Autor: Hammer, Michael F., Ishii, Atsushi, Johnstone, Laurel, Tchourbanov, Alexander, Lau, Branden, Sprissler, Ryan, Hallmark, Brian, Zhang, Miao, Zhou, Jin, Watkins, Joseph, Hirose, Shinichi

Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as among indivi

Externí odkaz: http://hdl.handle.net/10150/625359
http://arizona.openrepository.com/arizona/handle/10150/625359

Signal based Bayesian framework for gene structural prediction

Autor: Tchourbanov, Alexander.

Thesis (Ph.D.)--University of Nebraska-Lincoln, 2006.
Title from title screen (site viewed on September 12, 2006). PDF text of dissertation: 172 p. : ill. (some col.) ; 2.15Mb. UMI publication number: AAT 3209964. Includes bibliographical refere

Externí odkaz: http://0-wwwlib.umi.com.library.unl.edu/cr/unl/fullcit?p3209964

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Genetic determinants of risk and survival in pulmonary arterial hypertension

Autor: Rhodes, Christopher J., Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W., Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B., Karnes, Jason H., Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Inês, Ferrer, Jorge, Ahmad, Ferhaan, Amouyel, Philippe, Stephen L., Archer, Argula, Rahul, Eric D., Austin, Badesch, David, Bakshi, Sahil, Barnett, Christopher F., Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J., Burger, Charles D., Chakinala, Murali M., Church, Colin, Coghlan, John G., Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Debette, Stéphanie, Elliott, C. Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P., Frost, Adaani, Garcia, Joe G.N., Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Simon, J., Gibbs, R., Harley, John B., He, Hua, Hill, Nicholas S., Hirsch, Russel, Houweling, Arjan C., Howard, Luke S., Ivy, Dunbar, Kiely, David G., Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Lutz, Katie, Machado, Rajiv D., MacKenzie Ross, Robert V., Marsolo, Keith, Martin, Lisa J., Moledina, Shahin, Montani, David, Nathan, Steven D., Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J., Ouwehand, Willem H., Peacock, Andrew J., Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan M., Roden, Dan M., Rosenzweig, Erika B., Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M., Simms, Robert W., Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Swietlik, Emilia, Tang, Haiyang, Tchourbanov, Alexander Y., Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R., Treacy, Carmen M., Noordegraaf, Anton Vonk, Waisfisz, Quinten, Walsworth, Anna K., Walter, Robert E, Wharton, John, White, R. James, Wilt, Jeffrey, Wort, Stephen J., Yung, Delphine, Lawrie, Allan, Humbert, Marc, Soubrier, Florent, Trégouët, David-Alexandre, Prokopenko, Inga, Kittles, Richard, Gräf, Stefan, Nichols, William C., Trembath, Richard C., Desai, Ankit A., Morrell, Nicholas W., Wilkins, Martin R.

BackgroundPulmonary arterial hypertension (PAH) is a rare disorder leading to premature death. Rare genetic variants contribute to disease etiology but the contribution of common genetic variation to disease risk and outcome remains poorly characteri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0be038ddf6e6919ff713dc9dc62f637a
https://doi.org/10.1101/317164

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

Autor: Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B, Karnes, Jason H, Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Inês, Ferrer, Jorge, Lutz, Katie, Swietlik, Emilia M, Ahmad, Ferhaan, Amouyel, Philippe, Archer, Stephen L, Argula, Rahul, Austin, Eric D, Badesch, David, Bakshi, Sahil, Barnett, Christopher, Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J, Burger, Charles D, Chakinala, Murali, Church, Colin, Coghlan, John G, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Debette, Stéphanie, Elliott, C Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P, Frost, Adaani, Garcia, Joe GN, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Harley, John, He, Hua, Hill, Nicholas S, Hirsch, Russel, Houweling, Arjan C, Howard, Luke S, Ivy, Dunbar, Kiely, David G, Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Machado, Rajiv D, MacKenzie Ross, Robert V, Marsolo, Keith, Martin, Lisa J, Moledina, Shahin, Montani, David, Nathan, Steven D, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan, Roden, Dan M, Rosenzweig, Erika B, Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M, Simms, Robert W, Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Tang, Haiyang, Tchourbanov, Alexander Y, Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R, Treacy, Carmen M, Vonk Noordegraaf, Anton, Waisfisz, Quinten, Walsworth, Anna K, Walter, Robert E, Wharton, John, White, R James, Wilt, Jeffrey, Wort, Stephen J, Yung, Delphine, Lawrie, Allan, Humbert, Marc, Soubrier, Florent, Trégouët, David-Alexandre, Prokopenko, Inga, Kittles, Richard, Gräf, Stefan, Nichols, William C, Trembath, Richard C, Desai, Ankit A, Morrell, Nicholas W, Wilkins, Martin R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium

BACKGROUND: Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypert

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3c3aad566d9f4bd78b66b888f4bc3cae