Results 11 to 20 of about 14,685,767 (350)
2010 international consensus algorithm for the diagnosis, therapy and management of hereditary angioedema [PDF]
, 2010 Background We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) and updated this as Hereditary angioedema: a current state-of-the-art ...S. Waserman, Harmat, George, E. Leith, Bernstein Jonathan, Bowen, Tom, Leith, Eric, Doris Neurath, Craig, Timothy, Paul K Keith, Eric Leith, A. Hamed, D. Moldovan, Zuraw Bruce, Betschel Stephen, Avner Reshef, Dean, John, Cicardi Marco, Moldovan, Dumitru, Lilian Varga, Hilary J Longhurst, Rowe Anne, Nordenfelt Patrik, Barbara Mako, Harmat George, B. Ritchie, Martinez-Saguer, Inmaculada, Fust George, Della Cogar, Inmaculada Martinez-Saguer, George Fust, Devaraj, Ramachand, Mike Frank, Richard Warrington, J. Bernstein, Rowan, Dereth, Nielsen Erik W, Li, Henry, Tsai Ellie, D. Cogar, Timothy Craig, Zhi Xiang, Poon Man-Chiu, J. Brosz, E. Tsai, Marco Cicardi, R. Schellenberg, R. Warrington, Sur, Smeeksha, B. Mako, I. Nagy, Bork, Konrad, Frank Mike, George Harmat, Frank, Mike, Karen Binkley, H. Lyons, Schellenberg, Robert, Longhurst, Hilary, Erik W Nielsen, L. Varga, Farkas Henriette, Henriette Farkas, Mako, Barbara, Devaraj Ramachand, Longhurst Hilary J, G. E. Rivard, Rusicke, Eva, Hamed, Azza, Kreuz, Wolfhart, Eva Rusicke, Poon, Man-Chiu, Späth, Peter, Binkley Karen, Anne Rowe, Craig Timothy, Istvan Nagy, Neurath, Doris, Xiang, Zhi Yu, Bowen Tom, E. W. Nielsen, Lacuesta, Gina, Sean Mace, Bouillet Laurence, Nagy Istvan, Lacuesta Gina, Brosz Kristylea, Nielsen, Erik W, John Brosz, D. Rowan, D. Neurath, Peter Späth, A. Kanani, Nagy, Istvan, Ameratunga Rohan, Bruce Ritchie, Aygoeren-Pürsün Emel, Li Henry, A. Rowe, G. Lacuesta, Keith Paul K, B. Zuraw, T. Craig, Ritchie, Bruce, Caballero Teresa, Cogar Della, S. Mace, M. Frank, Dumitru Moldovan, S. Betsche, Mace Sean, M. Poon, Zhi Yu Xiang, Lyons, Harriet, Waserman Susan, J. Dean, T. Caballero, Xiang Zhi, Tom Bowen, Rohan Ameratunga, Gina Lacuesta, M. Levi, Smith-Foltz Sarah, S. Sur, Brosz, John, Björkander, Janne, Aygören-Pürsün, Emel, Warrington Richard, Aygoeren-Pürsün, Emel, Susan Waserman, Binkley, Karen, Waserman, Susan, Ritchie Bruce, Donald Stark, Keith, Paul K, Xiang, Zhi Y, Bygum, Anette, Bruce Zuraw, Anette Bygum, H. Li, R. Ameratunga, Bork Konrad, Robert Schellenberg, Rivard Georges-Etienne, Sarah Smith-Foltz, Caballero, Teresa, I. Martinez Saguer, Reshef Avner, Martinez Saguer, Inmaculada, H. J. Longhurst, Varga Lilian, J. Björkander, Laurence Bouillet, Palinder Kamra, Leith Eric, Betschel, Stephen, Bernstein, Jonathan, Ellie Tsai, T. Bowen, K. Brosz, Ramachand Devaraj, J. Hebert, Rowe, Anne, L. Bouillet, Kristylea Brosz, Dereth Rowan, Marcel Levi, Neurath Doris, P. Späth, Kanani, Amin, G. Harmat, M. Cicardi, Kanani Amin, Bygum Anette, Stephen Betschel, Sur Smeeksha, Martinez-Saguer Inmaculada, G. Fust, Nordenfelt, Patrik, Teresa Caballero, Bouillet, Laurence, Fust, George, H. Farkas, Jonathan Bernstein, Levi, Marcel, Jacques Hebert, Keith, Paul K., Stark, Donald, P. Nordenfelt, Hebert, Jacques, Xiang, Zhi, Warrington, Richard, D. Stark, Harriet Lyons, A. Bygum, Longhurst, Hilary J, Stark Donald, Henry Li, Rowan Dereth, Farkas, Henriette, Lyons Harriet, Bygum, Anette; id_orcid, Levi Marcel, Kamra, Palinder, Dean John, Ameratunga, Rohan, E. Aygoeren Pürsün, A. Reshef, Brosz, Kristylea, Janne Björkander, R. Devaraj, Konrad Bork, P. K. Keith, Björkander Janne, Kamra Palinder, Bernstein, Jonathan A., Späth Peter, Azza Hamed, Schellenberg Robert, P. Kamra, Cicardi, Marco, Amin Kanani, Mace, Sean, Smeeksha Sur, Levi, Marcel M., Y. X. Zhi, Varga, Lilian, Reshef, Avner, S. Smith Foltz, Georges-Etienne Rivard, Rusicke Eva, Rivard, Georges-Etienne, Smith-Foltz, Sarah, K. Binkley, Yu Xiang, Zhi, Emel Aygoeren-Pürsün, Cogar, Della, Hebert Jacques, Patrik Nordenfelt, E. Rusicke, Brosz John, John Dean, Mako Barbara, Zuraw, Bruce, Moldovan Dumitru, W. Kreuz, K. Bork, Tsai, Ellie, Kreuz Wolfhart, Man-Chiu Poon, Wolfhart Kreuz, Nielsen, Erik W., Hamed Azza +251 morecore +1 more sourceComparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.
JAMA Oncology, 2020 Importance
Hereditary factors play a key role in the risk of developing several cancers. Identification of a germline predisposition can have important implications for treatment decisions, risk-reducing interventions, cancer screening, and germline ...N. Samadder, D. Riegert-Johnson, L. Boardman, D. Rhodes, M. Wick, S. Okuno, K. Kunze, M. Golafshar, Pedro Luiz Serrano Uson Junior, L. Mountjoy, Natalie M. Ertz-Archambault, N. Patel, E. Rodriguez, B. Lizaola-Mayo, M. Lehrer, C. Thorpe, N. Yu, E. Esplin, R. Nussbaum, R. Sharp, Cindy Azevedo, M. Klint, M. Hager, Sarah K. Macklin-Mantia, A. Bryce, T. Bekaii-Saab, A. Sekulic, K. Stewart +27 moresemanticscholar +1 more sourceR116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis [PDF]
, 2001 Hereditary pancreatitis is due to heterozygosity for gain-of-function mutations in the cationic trypsinogen gene which result in increased levels of active trypsin within pancreatic acinar cells and autodigestion of the pancreas.Dertinger, S., Ruebsamen, H., Lohse, P., Beck, M., Tautermann, G., Drexel, H. +5 morecore +1 more sourceIschaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. [PDF]
, 2014 25/03/14 meb. OA paper , Ok to add.Background: Pulmonary first pass filtration of particles marginally exceeding ~7 µm (the size of a red blood cell) is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation in ...John A Livesey, Michael A. Laffan (367175), Tighe Hannah C., Richard Manning (524799), James E Jackson, James E. Jackson (524802), Gillian Angus, Tighe, HC, Meek John, Jackson James E., Gillian Angus (367169), Claire L Shovlin, Livesey, J, Basel Chamali (524796), John A. Livesey (524798), Hannah C. Tighe (524801), Laffan, MA, Basel Chamali, Vatshalan Santhirapala (524797), Jackson, JE, Meek, J, Chamali Basel, Manning Richard, Chamali, B, Michael A Laffan, Hannah C Tighe, Claire L. Shovlin (367168), Manning, R, Livesey John A., Shovlin, CL, Angus Gillian, Santhirapala, V, Santhirapala Vatshalan, John Meek, Shovlin Claire L., Vatshalan Santhirapala, Richard Manning, Laffan Michael A., John Meek (524800) +38 morecore +1 more sourceThe Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity [PDF]
, 2009 Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease due to mitochondrial DNA (mtDNA) point mutations in complex I subunit genes, whose incomplete penetrance has been attributed to both genetic and environmental factors ...Achilli Alessandro, GHELLI, ANNA MARIA, Mattioli Stefano, Pala M., Barbieri, Anna, Vidoni S., Torroni Antonio, Carelli Valerio, Anna Barbieri, Vidoni, Sara, Valerio Carelli, Carelli, Valerio, Ghelli, Anna, Mattioli, Stefano, Torroni, Antonio, Iommarini, Luisa, Zanna, Claudia, Pala, Maria, Vidoni Sara, Stefano Mattioli, Antonio Torroni, Achilli A., ZANNA C, Porcelli Anna Maria, Zanna Claudia, Pala Maria, MATTIOLI S, Luisa Iommarini, GHELLI A, Achilli, Alessandro, IOMMARINI L, Rugolo, Michela, Torroni A., Porcelli, Anna Maria, CARELLI V., Ghelli Anna, Rugolo Michela, BARBIERI A, RUGOLO M, PORCELLI AM, Anna Ghelli, Barbieri Anna, Sara Vidoni, Maria Pala, Alessandro Achilli, Anna Maria Porcelli, Michela Rugolo, Claudia Zanna, Iommarini Luisa, VIDONI S +49 morecore +1 more sourceHEREDITARY FACTORS IN TUBERCULOSIS. [PDF]
JAMA: The Journal of the American Medical Association, 1900 The hereditary factors are regarded as being less influential at the present day than was held prior to Koch's important discovery of the tubercle bacillus. It has been conclusively shown that direct hereditary transmission is an exceptional occurrence.openaire +1 more source
