Recessive congenital methaemoglobinaemia: cytochrome b5 reductase deficiency
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Conference Proceeding
Erythrocytosis and Pulmonary Hypertension in a Mouse Model of Human HIF2A Gain of Function Mutation
Tan, Qiulin, Kerestes, Heddy, Percy, Melanie J., Pietrofesa, Ralph, Chen, Li, Khurana, Tejvir S., Christofidou-Solomidou, Melpo, Lappin, Terence R.J., Lee, Frank S.
Published in The Journal of biological chemistry (14.06.2013)
Published in The Journal of biological chemistry (14.06.2013)
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Molecular diagnostics of myeloproliferative neoplasms
Langabeer, Stephen E., Andrikovics, Hajnalka, Asp, Julia, Bellosillo, Beatriz, Carillo, Serge, Haslam, Karl, Kjaer, Lasse, Lippert, Eric, Mansier, Olivier, Oppliger Leibundgut, Elisabeth, Percy, Melanie J., Porret, Naomi, Palmqvist, Lars, Schwarz, Jiri, McMullin, Mary F., Schnittger, Susanne, Pallisgaard, Niels, Hermouet, Sylvie
Published in European journal of haematology (01.10.2015)
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A Family with Erythrocytosis Establishes a Role for Prolyl Hydroxylase Domain Protein 2 in Oxygen Homeostasis
Percy, Melanie J., Zhao, Quan, Flores, Adrian, Harrison, Claire, Lappin, Terence R. J., Maxwell, Patrick H., McMullin, Mary Frances, Lee, Frank S.
Published in Proceedings of the National Academy of Sciences - PNAS (17.01.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (17.01.2006)
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A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency Mechanism
Arsenault, Patrick R., Pei, Fei, Lee, Rebecca, Kerestes, Heddy, Percy, Melanie J., Keith, Brian, Simon, M. Celeste, Lappin, Terence R.J., Khurana, Tejvir S., Lee, Frank S.
Published in The Journal of biological chemistry (22.11.2013)
Published in The Journal of biological chemistry (22.11.2013)
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A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove
Percy, Melanie J., Furlow, Paul W., Beer, Philip A., Lappin, Terence R.J., McMullin, Mary Frances, Lee, Frank S.
Published in Blood (15.09.2007)
Published in Blood (15.09.2007)
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The myeloproliferative disorder–associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3
Hookham, Michelle B., Elliott, Joanne, Suessmuth, Yvonne, Staerk, Judith, Ward, Alister C., Vainchenker, William, Percy, Melanie J., McMullin, Mary Frances, Constantinescu, Stefan N., Johnston, James A.
Published in Blood (01.06.2007)
Published in Blood (01.06.2007)
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The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms
Jones, Amy V., Campbell, Peter J., Beer, Philip A., Schnittger, Susanne, Vannucchi, Alessandro M., Zoi, Katerina, Percy, Melanie J., McMullin, Mary Frances, Scott, Linda M., Tapper, William, Silver, Richard T., Oscier, David, Harrison, Claire N., Grallert, Harald, Kisialiou, Aliaksei, Strike, Paul, Chase, Andrew J., Green, Anthony R., Cross, Nicholas C.P.
Published in Blood (03.06.2010)
Published in Blood (03.06.2010)
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Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology
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
Published in PLoS medicine (01.07.2006)
Published in PLoS medicine (01.07.2006)
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The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels
Percy, Melanie J, Scott, Linda M, Erber, Wendy N, Harrison, Claire N, Reilly, John T, Jones, Frank G.C, Green, Anthony R, McMullin, Mary Frances
Published in Haematologica (Roma) (01.12.2007)
Published in Haematologica (Roma) (01.12.2007)
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Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis
PERCY, Melanie J, BUTT, Nauman N, CROTTY, Gerard M, DRUMMOND, Mark W, HARRISON, Claire, JONES, Gail L, TURNER, Matthew, WALLIS, Jonathan, MCMULLIN, Mary Frances
Published in Haematologica (Roma) (01.09.2009)
Published in Haematologica (Roma) (01.09.2009)
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Erythrocytosis associated with a novel missense mutation in the HIF2A gene
VAN WIJK, Richard, SUTHERLAND, Scott, VAN WESEL, Annet C. W, HUIZINGA, Eric G, PERCY, Melanie J, BIERINGS, Marc, LEE, Frank S
Published in Haematologica (Roma) (01.05.2010)
Published in Haematologica (Roma) (01.05.2010)
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Potential prognostic marker ubiquitin carboxyl-terminal hydrolase-L1 does not predict patient survival in non-small cell lung carcinoma
Orr, Katy S, Shi, Zhanzhong, Brown, W Mark, O'Hagan, Kathleen A, Lappin, Terence R, Maxwell, Perry, Percy, Melanie J
Published in Journal of experimental & clinical cancer research (30.08.2011)
Published in Journal of experimental & clinical cancer research (30.08.2011)
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Tibetan PHD2, an allele with loss-of-function properties
Song, Daisheng, Navalsky, Bradleigh E., Guan, Wei, Ingersoll, Cassandra, Wang, Tao, Loro, Emanuele, Eeles, Lydia, Matchett, Kyle B., Percy, Melanie J., Walsby-Tickle, John, McCullagh, James S. O., Medina, Reinhold J., Khurana, Tejvir S., Bigham, Abigail W., Lappin, Terence R., Lee, Frank S.
Published in Proceedings of the National Academy of Sciences - PNAS (02.06.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (02.06.2020)
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Oxygen Sensing: Recent Insights from Idiopathic Erythrocytosis
Lee, Frank S., Percy, Melanie J., McMulli, Mary Frances
Published in Cell cycle (Georgetown, Tex.) (01.05.2006)
Published in Cell cycle (Georgetown, Tex.) (01.05.2006)
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A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1α (HIF-1α) does not impair Pro-564 hydroxylation
Percy, Melanie, Mooney, Sharon, McMullin, Mary, Flores, Adrian, Lappin, Terence, Lee, Frank
Published in Molecular cancer (09.09.2003)
Published in Molecular cancer (09.09.2003)
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