Results 11 to 20 of about 464,487 (319)
Polymorphisms in MMP-1, MMP-2, MMP-7, MMP-13 and MT2A do not contribute to breast, lung and colon cancer risk in polish population
Hereditary Cancer in Clinical Practice, 2020 Background Matrix metalloproteinases (MMPs) and metallothioneins (MTs) are Zinc-related proteins which are involved in processes crucial for carcinogenesis such as angiogenesis, proliferation and apoptosis.Katarzyna Białkowska, Wojciech Marciniak, Magdalena Muszyńska, Piotr Baszuk, Satish Gupta, Katarzyna Jaworska-Bieniek, Grzegorz Sukiennicki, Katarzyna Durda, Tomasz Gromowski, Marcin Lener, Karolina Prajzendanc, Alicja Łukomska, Cezary Cybulski, Tomasz Huzarski, Jacek Gronwald, Tadeusz Dębniak, Jan Lubiński, Anna Jakubowska +17 moredoaj +1 more sourceGenetic testing for hereditary breast cancer in Poland: 1998–2022
Hereditary Cancer in Clinical Practice, 2023 BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers and 10% of patients with ovarian cancer carry a mutation in BRCA1.Jacek Gronwald, Cezary Cybulski, Tomasz Huzarski, Anna Jakubowska, Tadeusz Debniak, Marcin Lener, Steven A Narod, Jan Lubinski +7 moredoaj +1 more sourceHereditary angioedema [PDF]
International Journal of Emergency Medicine, 2021 AbstractA 14-year-old African American female presented to the emergency department with spontaneous, sudden-onset lip swelling for 1 h. On examination, there was significant water-bag edema of the upper lip extending to the philtrum and premaxilla. Nasopharyngeal laryngoscopy revealed a patent airway without edema.Helen Lesser, Jason E. Cohnopenaire +3 more sourcesCase Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant
Frontiers in Endocrinology, 2021 IntroductionPheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia.Diana Borges Duarte, Lia Ferreira, Ana P. Santos, Cláudia Costa, Jorge Lima, Jorge Lima, Jorge Lima, Catarina Santos, Mariana Afonso, Manuel R. Teixeira, Manuel R. Teixeira, Rui Carvalho, Maria Helena Cardoso +12 moredoaj +1 more source2010 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 sourceHereditary Myelopathies [PDF]
Continuum, 2008 Hereditary myelopathies are a diverse group of disorders in which major aspects of the clinical syndrome involve spinal cord structures. Hereditary myelopathic syndromes can be recognized as four clinical paradigms: (1) spinocerebellar ataxia, (2) motor neuron disorder, (3) leukodystrophy, and (4) distal motor-sensory axonopathy.openaire +3 more sourcesHereditary angioedema (HAE) in children and adolescents : a consensus on therapeutic strategies [PDF]
, 2012 Hereditary angioedema due to C1 inhibitor (C1 esterase inhibitor) deficiency (types I and II HAE-C1-INH) is a rare disease that usually presents during childhood or adolescence with intermittent episodes of potentially life-threatening angioedema ...Martinez-Saguer, I, Wahn, V, V. Wahn, I. Martinez-Saguer, Magerl, Markus, Eberl, W, Meyer-Olson, D, Kurnik, K, P. Staubach-Renz, Staubach-Renz, Petra, Eberl, Wolfgang, Kreuz, Wolfhart, Faßhauer, M, K. Kurnik, Magerl, M, D. Meyer-Olson, T. Kühne, W. Aberer, Staubach-Renz, P, Späth, Peter J., Aberer, W, Späth, P, Kreuz, W, Kurnik, Karin, W. Eberl, Wahn, Volker, P. Späth, Aberer, Werner, Meyer-Olson, Dirk, Martinez Saguer, Inmaculada, M. Faßhauer, W. Kreuz, Faßhauer, Maria, M. Magerl, Kühne, T, Kühne, Thomas +35 morecore +1 more sourceHereditary hemochromatosis
Hematology, 2005 Hereditary hemochromatosis (HH) is a disorder of iron metabolism characterized by a progressive tissue iron overload which leads to an irreversible organ damage if it is not treated timely. The recent developments in the field of molecular medicine have radically changed the physiopathology and the diagnosis of this disease.Massimo, Franchini, Dino, Veneriopenaire +3 more sourcesSEOM clinical guidelines in hereditary breast and ovarian cancer (2019) [PDF]
, 2020 Mutations in BRCA1 and BRCA2 high penetrance genes account for most hereditary breast and ovarian cancer, although other new high-moderate penetrance genes included in multigene panels have increased the genetic diagnosis of hereditary breast and ovarian González-Santiago, S, Llort, G, Aguirre, E, Graña Suárez, Begoña, González-del-Alba, A., González-Santiago, S., Alés-Martínez, J.E., Graña, B., Alés-Martínez, J E, Herrero, A, Llort, G., Ramón y Cajal, T., the, SEOM, Hereditary, Cancer, Working, Group, Ramón Y Cajal, T, Andrés, R, Balmaña, J., Aguirre, E., González-Del-Alba, A, Andrés, R., Balmaña, J, Herrero, A. +20 morecore +1 more source
