Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway

por Percy, Melanie J
Publicado 2008

JAK2 V617F: A Single Mutation in the Myeloproliferative Group of Disorders

por McLornan, Donal, Percy, Melanie, McMullin, Mary Frances
Publicado 2006

A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1α (HIF-1α) does not impair Pro-564 hydroxylation

por Percy, Melanie J, Mooney, Sharon M, McMullin, Mary Frances, Flores, Adrian, Lappin, Terence RJ, Lee, Frank S
Publicado 2003

Potential prognostic marker ubiquitin carboxyl-terminal hydrolase-L1 does not predict patient survival in non-small cell lung carcinoma

por Orr, Katy S, Shi, Zhanzhong, Brown, W Mark, O'Hagan, Kathleen A, Lappin, Terence R, Maxwell, Perry, Percy, Melanie J
Publicado 2011

A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2(V617F) positive polycythemia vera: a case report

por Pang, Ying, Gupta, Garima, Yang, Chunzhang, Wang, Herui, Huynh, Thanh-Truc, Abdullaev, Ziedulla, Pack, Svetlana D., Percy, Melanie J., Lappin, Terence R. J., Zhuang, Zhengping, Pacak, Karel
Publicado 2018

The role of PHD2 mutations in the pathogenesis of erythrocytosis

por Gardie, Betty, Percy, Melanie J, Hoogewijs, David, Chowdhury, Rasheduzzaman, Bento, Celeste, Arsenault, Patrick R, Richard, Stéphane, Almeida, Helena, Ewing, Joanne, Lambert, Frédéric, McMullin, Mary Frances, Schofield, Christopher J, Lee, Frank S
Publicado 2014

Mutation of von Hippel–Lindau Tumour Suppressor and Human Cardiopulmonary Physiology

por Smith, Thomas G, Brooks, Jerome T, Balanos, George M, Lappin, Terence R, Layton, D. Mark, Leedham, Dawn L, Liu, Chun, Maxwell, Patrick H, McMullin, Mary F, McNamara, Christopher J, Percy, Melanie J, Pugh, Christopher W, Ratcliffe, Peter J, Talbot, Nick P, Treacy, Marilyn, Robbins, Peter A
Publicado 2006

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2α gain-of-function mutation

por Formenti, Federico, Beer, Philip A., Croft, Quentin P. P., Dorrington, Keith L., Gale, Daniel P., Lappin, Terence R. J., Lucas, Guy S., Maher, Eamonn R., Maxwell, Patrick H., McMullin, Mary F., O'Connor, David F., Percy, Melanie J., Pugh, Christopher W., Ratcliffe, Peter J., Smith, Thomas G., Talbot, Nick P., Robbins, Peter A.
Publicado 2011

International external quality assurance of JAK2 V617F quantification

por Asp, Julia, Skov, Vibe, Bellosillo, Beatriz, Kristensen, Thomas, Lippert, Eric, Dicker, Frank, Schwarz, Jiri, Wojtaszewska, Marzena, Palmqvist, Lars, Akiki, Susanna, Aggerholm, Anni, Tolstrup Andersen, Morten, Girodon, François, Kjær, Lasse, Oppliger Leibundgut, Elisabeth, Pancrazzi, Alessandro, Vorland, Marta, Andrikovics, Hajnalka, Kralovics, Robert, Cassinat, Bruno, Coucelo, Margarida, Eftimov, Aleksandar, Haslam, Karl, Kusec, Rajko, Link-Lenczowska, Dorota, Lodé, Laurence, Matiakowska, Karolina, Naguib, Dina, Navaglia, Filippo, Novotny, Guy Wayne, Percy, Melanie J, Sudarikov, Andrey, Hermouet, Sylvie, Pallisgaard, Niels
Publicado 2018

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

por Taylor, Jenny C, Martin, Hilary C, Lise, Stefano, Broxholme, John, Cazier, Jean-Baptiste, Rimmer, Andy, Kanapin, Alexander, Lunter, Gerton, Fiddy, Simon, Allan, Chris, Aricescu, A. Radu, Attar, Moustafa, Babbs, Christian, Becq, Jennifer, Beeson, David, Bento, Celeste, Bignell, Patricia, Blair, Edward, Buckle, Veronica J, Bull, Katherine, Cais, Ondrej, Cario, Holger, Chapel, Helen, Copley, Richard R, Cornall, Richard, Craft, Jude, Dahan, Karin, Davenport, Emma E, Dendrou, Calliope, Devuyst, Olivier, Fenwick, Aimée L, Flint, Jonathan, Fugger, Lars, Gilbert, Rodney D, Goriely, Anne, Green, Angie, Greger, Ingo H., Grocock, Russell, Gruszczyk, Anja V, Hastings, Robert, Hatton, Edouard, Higgs, Doug, Hill, Adrian, Holmes, Chris, Howard, Malcolm, Hughes, Linda, Humburg, Peter, Johnson, David, Karpe, Fredrik, Kingsbury, Zoya, Kini, Usha, Knight, Julian C, Krohn, Jonathan, Lamble, Sarah, Langman, Craig, Lonie, Lorne, Luck, Joshua, McCarthy, Davis, McGowan, Simon J, McMullin, Mary Frances, Miller, Kerry A, Murray, Lisa, Németh, Andrea H, Nesbit, M Andrew, Nutt, David, Ormondroyd, Elizabeth, Oturai, Annette Bang, Pagnamenta, Alistair, Patel, Smita Y, Percy, Melanie, Petousi, Nayia, Piazza, Paolo, Piret, Sian E, Polanco-Echeverry, Guadalupe, Popitsch, Niko, Powrie, Fiona, Pugh, Chris, Quek, Lynn, Robbins, Peter A, Robson, Kathryn, Russo, Alexandra, Sahgal, Natasha, van Schouwenburg, Pauline A, Schuh, Anna, Silverman, Earl, Simmons, Alison, Sørensen, Per Soelberg, Sweeney, Elizabeth, Taylor, John, Thakker, Rajesh V, Tomlinson, Ian, Trebes, Amy, Twigg, Stephen RF, Uhlig, Holm H, Vyas, Paresh, Vyse, Tim, Wall, Steven A, Watkins, Hugh, Whyte, Michael P, Witty, Lorna, Wright, Ben, Yau, Chris, Buck, David, Humphray, Sean, Ratcliffe, Peter J, Bell, John I, Wilkie, Andrew OM, Bentley, David, Donnelly, Peter, McVean, Gilean
Publicado 2015