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Items: 1 to 50 of 79

1.

International external quality assurance of JAK2 V617F quantification.

Asp J, Skov V, Bellosillo B, Kristensen T, Lippert E, Dicker F, Schwarz J, Wojtaszewska M, Palmqvist L, Akiki S, Aggerholm A, Tolstrup Andersen M, Girodon F, Kjær L, Oppliger Leibundgut E, Pancrazzi A, Vorland M, Andrikovics H, Kralovics R, Cassinat B, Coucelo M, Eftimov A, Haslam K, Kusec R, Link-Lenczowska D, Lodé L, Matiakowska K, Naguib D, Navaglia F, Novotny GW, Percy MJ, Sudarikov A, Hermouet S, Pallisgaard N.

Ann Hematol. 2018 Dec 8. doi: 10.1007/s00277-018-3570-8. [Epub ahead of print]

PMID:
30535576
2.

A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2V617F positive polycythemia vera: a case report.

Pang Y, Gupta G, Yang C, Wang H, Huynh TT, Abdullaev Z, Pack SD, Percy MJ, Lappin TRJ, Zhuang Z, Pacak K.

BMC Cancer. 2018 Mar 13;18(1):286. doi: 10.1186/s12885-018-4127-x.

3.

Recessive congenital methemoglobinemia in immediate generations.

Aslan D, Türköz-Sucak G, Percy MJ.

Turk J Pediatr. 2016;58(1):113-115.

4.

The prevalence of CALR mutations in a cohort of patients with myeloproliferative neoplasms.

Grinsztejn E, Percy MJ, McClenaghan D, Quintana M, Cuthbert RJ, McMullin MF.

Int J Lab Hematol. 2016 Feb;38(1):102-6. doi: 10.1111/ijlh.12447. Epub 2015 Nov 11.

PMID:
26555437
5.

Molecular diagnostics of myeloproliferative neoplasms.

Langabeer SE, Andrikovics H, Asp J, Bellosillo B, Carillo S, Haslam K, Kjaer L, Lippert E, Mansier O, Oppliger Leibundgut E, Percy MJ, Porret N, Palmqvist L, Schwarz J, McMullin MF, Schnittger S, Pallisgaard N, Hermouet S; MPN&MPNr-EuroNet.

Eur J Haematol. 2015 Oct;95(4):270-9. doi: 10.1111/ejh.12578. Epub 2015 May 18. Review.

PMID:
25951317
6.

DEK oncogene expression during normal hematopoiesis and in Acute Myeloid Leukemia (AML).

Logan GE, Mor-Vaknin N, Braunschweig T, Jost E, Schmidt PV, Markovitz DM, Mills KI, Kappes F, Percy MJ.

Blood Cells Mol Dis. 2015 Jan;54(1):123-31. doi: 10.1016/j.bcmd.2014.07.009. Epub 2014 Aug 12.

7.

Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations.

Langabeer SE, Haslam K, Linders J, Percy MJ, Conneally E, Hayat A, Hennessy B, Leahy M, Murphy K, Murray M, Ni Ainle F, Thornton P, Sargent J.

Fam Cancer. 2014 Dec;13(4):659-63. doi: 10.1007/s10689-014-9743-2.

PMID:
25103330
8.

Erythrocytosis associated with a novel missense mutation in the BPGM gene.

Petousi N, Copley RR, Lappin TR, Haggan SE, Bento CM, Cario H, Percy MJ; WGS Consortium, Ratcliffe PJ, Robbins PA, McMullin MF.

Haematologica. 2014 Oct;99(10):e201-4. doi: 10.3324/haematol.2014.109306. Epub 2014 Jul 11. No abstract available.

9.

The role of PHD2 mutations in the pathogenesis of erythrocytosis.

Gardie B, Percy MJ, Hoogewijs D, Chowdhury R, Bento C, Arsenault PR, Richard S, Almeida H, Ewing J, Lambert F, McMullin MF, Schofield CJ, Lee FS.

Hypoxia (Auckl). 2014 Jul 1;2:71-90. eCollection 2014. Review.

10.

Polycythaemia-inducing mutations in the erythropoietin receptor (EPOR): mechanism and function as elucidated by epidermal growth factor receptor-EPOR chimeras.

Gross M, Ben-Califa N, McMullin MF, Percy MJ, Bento C, Cario H, Minkov M, Neumann D.

Br J Haematol. 2014 May;165(4):519-28. doi: 10.1111/bjh.12782. Epub 2014 Feb 18.

PMID:
24533580
11.

Hypoxia-inducible factor 2α regulates key neutrophil functions in humans, mice, and zebrafish.

Thompson AA, Elks PM, Marriott HM, Eamsamarng S, Higgins KR, Lewis A, Williams L, Parmar S, Shaw G, McGrath EE, Formenti F, Van Eeden FJ, Kinnula VL, Pugh CW, Sabroe I, Dockrell DH, Chilvers ER, Robbins PA, Percy MJ, Simon MC, Johnson RS, Renshaw SA, Whyte MK, Walmsley SR.

Blood. 2014 Jan 16;123(3):366-76. doi: 10.1182/blood-2013-05-500207. Epub 2013 Nov 6.

12.

A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism.

Arsenault PR, Pei F, Lee R, Kerestes H, Percy MJ, Keith B, Simon MC, Lappin TR, Khurana TS, Lee FS.

J Biol Chem. 2013 Nov 22;288(47):33571-84. doi: 10.1074/jbc.M113.482364. Epub 2013 Oct 11.

13.

Genetic basis of congenital erythrocytosis: mutation update and online databases.

Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro ML, McMullin MF, Cario H; ECE-Consortium, Chauveau A, Gimenez-Roqueplo AP, Bressac-de-Paillerets B, Altindirek D, Lorenzo F, Lambert F, Dan H, Gad-Lapiteau S, Catarina Oliveira A, Rossi C, Fraga C, Taradin G, Martin-Nuñez G, Vitória H, Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques da Costa R, Beshara S, Ben-Ami T, Ugo V; ECE-Consortium.

Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22.

PMID:
24115288
14.

Establishing optimal quantitative-polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F-associated myeloproliferative neoplasms: a joint European LeukemiaNet/MPN&MPNr-EuroNet (COST action BM0902) study.

Jovanovic JV, Ivey A, Vannucchi AM, Lippert E, Oppliger Leibundgut E, Cassinat B, Pallisgaard N, Maroc N, Hermouet S, Nickless G, Guglielmelli P, van der Reijden BA, Jansen JH, Alpermann T, Schnittger S, Bench A, Tobal K, Wilkins B, Cuthill K, McLornan D, Yeoman K, Akiki S, Bryon J, Jeffries S, Jones A, Percy MJ, Schwemmers S, Gruender A, Kelley TW, Reading S, Pancrazzi A, McMullin MF, Pahl HL, Cross NC, Harrison CN, Prchal JT, Chomienne C, Kiladjian JJ, Barbui T, Grimwade D.

Leukemia. 2013 Oct;27(10):2032-9. doi: 10.1038/leu.2013.219. Epub 2013 Jul 17.

15.

Erythrocytosis in children and adolescents-classification, characterization, and consensus recommendations for the diagnostic approach.

Cario H, McMullin MF, Bento C, Pospisilova D, Percy MJ, Hussein K, Schwarz J, Aström M, Hermouet S; MPN&MPNr-EuroNet.

Pediatr Blood Cancer. 2013 Nov;60(11):1734-8. doi: 10.1002/pbc.24625. Epub 2013 Jun 14. Review.

PMID:
23776154
16.

Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation.

Tan Q, Kerestes H, Percy MJ, Pietrofesa R, Chen L, Khurana TS, Christofidou-Solomidou M, Lappin TR, Lee FS.

J Biol Chem. 2013 Jun 14;288(24):17134-44. doi: 10.1074/jbc.M112.444059. Epub 2013 May 2.

17.

Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity.

Percy MJ, Barnes C, Crighton G, Leventer RJ, Wynn R, Lappin TR.

J Pediatr Hematol Oncol. 2012 Aug;34(6):457-60. doi: 10.1097/MPH.0b013e318257a492.

PMID:
22627575
18.

Two new mutations in the HIF2A gene associated with erythrocytosis.

Percy MJ, Chung YJ, Harrison C, Mercieca J, Hoffbrand AV, Dinardo CL, Santos PC, Fonseca GH, Gualandro SF, Pereira AC, Lappin TR, McMullin MF, Lee FS.

Am J Hematol. 2012 Apr;87(4):439-42. doi: 10.1002/ajh.23123. Epub 2012 Feb 24. No abstract available.

19.

A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis.

McMullin MF, Wu C, Percy MJ, Tong W.

Am J Hematol. 2011 Nov;86(11):962-4. doi: 10.1002/ajh.22154. Epub 2011 Aug 22. No abstract available.

20.

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

Orr KS, Shi Z, Brown WM, O'Hagan KA, Lappin TR, Maxwell P, Percy MJ.

J Exp Clin Cancer Res. 2011 Aug 30;30:79. doi: 10.1186/1756-9966-30-79.

21.

A novel base change leading to Hb Vanderbilt [β89(F5)Ser→Arg, AGT>AGA].

Goodyer MJ, Elhassadi EI, Percy MJ, McMullin MF.

Hemoglobin. 2011;35(4):428-9. doi: 10.3109/03630269.2011.594137.

PMID:
21797710
22.

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

Formenti F, Beer PA, Croft QP, Dorrington KL, Gale DP, Lappin TR, Lucas GS, Maher ER, Maxwell PH, McMullin MF, O'Connor DF, Percy MJ, Pugh CW, Ratcliffe PJ, Smith TG, Talbot NP, Robbins PA.

FASEB J. 2011 Jun;25(6):2001-11. doi: 10.1096/fj.10-177378. Epub 2011 Mar 9.

23.

The HIF pathway and erythrocytosis.

Lee FS, Percy MJ.

Annu Rev Pathol. 2011;6:165-92. doi: 10.1146/annurev-pathol-011110-130321. Review.

PMID:
20939709
24.

Regulation of human metabolism by hypoxia-inducible factor.

Formenti F, Constantin-Teodosiu D, Emmanuel Y, Cheeseman J, Dorrington KL, Edwards LM, Humphreys SM, Lappin TR, McMullin MF, McNamara CJ, Mills W, Murphy JA, O'Connor DF, Percy MJ, Ratcliffe PJ, Smith TG, Treacy M, Frayn KN, Greenhaff PL, Karpe F, Clarke K, Robbins PA.

Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12722-7. doi: 10.1073/pnas.1002339107. Epub 2010 Jun 28.

25.

Erythropoietin-induced activation of the JAK2/STAT5, PI3K/Akt, and Ras/ERK pathways promotes malignant cell behavior in a modified breast cancer cell line.

Shi Z, Hodges VM, Dunlop EA, Percy MJ, Maxwell AP, El-Tanani M, Lappin TR.

Mol Cancer Res. 2010 Apr;8(4):615-26. doi: 10.1158/1541-7786.MCR-09-0264. Epub 2010 Mar 30.

26.

The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.

Jones AV, Campbell PJ, Beer PA, Schnittger S, Vannucchi AM, Zoi K, Percy MJ, McMullin MF, Scott LM, Tapper W, Silver RT, Oscier D, Harrison CN, Grallert H, Kisialiou A, Strike P, Chase AJ, Green AR, Cross NC.

Blood. 2010 Jun 3;115(22):4517-23. doi: 10.1182/blood-2009-08-236448. Epub 2010 Mar 19.

27.

Erythrocytosis associated with a novel missense mutation in the HIF2A gene.

van Wijk R, Sutherland S, Van Wesel AC, Huizinga EG, Percy MJ, Bierings M, Lee FS.

Haematologica. 2010 May;95(5):829-32. doi: 10.3324/haematol.2009.017582. Epub 2009 Dec 8.

28.

A new polycythaemia vera-associated SOCS3 SH2 mutant (SOCS3F136L) cannot regulate erythropoietin responses.

Suessmuth Y, Elliott J, Percy MJ, Inami M, Attal H, Harrison CN, Inokuchi K, McMullin MF, Johnston JA.

Br J Haematol. 2009 Nov;147(4):450-8. doi: 10.1111/j.1365-2141.2009.07860.x. Epub 2009 Sep 5.

29.

Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis.

Percy MJ, Butt NN, Crotty GM, Drummond MW, Harrison C, Jones GL, Turner M, Wallis J, McMullin MF.

Haematologica. 2009 Sep;94(9):1321-2. doi: 10.3324/haematol.2009.008037. No abstract available.

30.

A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.

Arikoglu T, Yarali N, Kara A, Bay A, Bozkaya IO, Tunc B, Percy MJ.

Pediatr Hematol Oncol. 2009 Jul-Aug;26(5):381-5. doi: 10.1080/08880010902979233.

PMID:
19579085
31.

Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.

Furlow PW, Percy MJ, Sutherland S, Bierl C, McMullin MF, Master SR, Lappin TR, Lee FS.

J Biol Chem. 2009 Apr 3;284(14):9050-8. doi: 10.1074/jbc.M808737200. Epub 2009 Feb 10.

32.

Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis.

Percy MJ, Rumi E.

Am J Hematol. 2009 Jan;84(1):46-54. doi: 10.1002/ajh.21313. Review.

33.

NADH-cytochrome b5 reductase in a Turkish family with recessive congenital methaemoglobinaemia type I.

Percy MJ, Aslan D.

J Clin Pathol. 2008 Oct;61(10):1122-3. doi: 10.1136/jcp.2008.058701.

PMID:
18820099
35.

Familial erythrocytosis: molecular links to red blood cell control.

Percy MJ, Lee FS.

Haematologica. 2008 Jul;93(7):963-7. doi: 10.3324/haematol.13250. No abstract available.

36.

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

Percy MJ, Beer PA, Campbell G, Dekker AW, Green AR, Oscier D, Rainey MG, van Wijk R, Wood M, Lappin TR, McMullin MF, Lee FS.

Blood. 2008 Jun 1;111(11):5400-2. doi: 10.1182/blood-2008-02-137703. Epub 2008 Mar 31.

37.

Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.

Percy MJ, Lappin TR.

Br J Haematol. 2008 May;141(3):298-308. doi: 10.1111/j.1365-2141.2008.07017.x. Epub 2008 Mar 3. Review.

PMID:
18318771
38.

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.

Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, McMullin MF, Lee FS.

N Engl J Med. 2008 Jan 10;358(2):162-8. doi: 10.1056/NEJMoa073123.

39.

Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology.

Smith TG, Brooks JT, Balanos GM, Lappin TR, Layton DM, Leedham DL, Liu C, Maxwell PH, McMullin MF, McNamara CJ, Percy MJ, Pugh CW, Ratcliffe PJ, Talbot NP, Treacy M, Robbins PA.

Adv Exp Med Biol. 2008;605:51-6.

PMID:
18085246
40.

The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels.

Percy MJ, Scott LM, Erber WN, Harrison CN, Reilly JT, Jones FG, Green AR, McMullin MF.

Haematologica. 2007 Dec;92(12):1607-14.

41.

Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2 alpha iron-responsive element?

Percy MJ, Sanchez M, Swierczek S, McMullin MF, Mojica-Henshaw MP, Muckenthaler MU, Prchal JT, Hentze MW.

Blood. 2007 Oct 1;110(7):2776-7. No abstract available.

42.

Mutations and polymorphisms in hemoglobin genes and the risk of pulmonary hypertension and death in sickle cell disease.

Taylor JG 6th, Ackah D, Cobb C, Orr N, Percy MJ, Sachdev V, Machado R, Castro O, Kato GJ, Chanock SJ, Gladwin MT.

Am J Hematol. 2008 Jan;83(1):6-14.

43.

A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.

Percy MJ, Furlow PW, Beer PA, Lappin TR, McMullin MF, Lee FS.

Blood. 2007 Sep 15;110(6):2193-6. Epub 2007 Jun 19.

44.

Pyruvate kinase deficient hemolytic anemia in the Northern Irish population.

Percy MJ, van Wijk R, Haggan S, Savage GA, Boyd K, Dempsey S, Hamilton J, Kettle P, Kyle A, Shepherd CW, van Solinge WW, Lappin TR, McMullin MF.

Blood Cells Mol Dis. 2007 Sep-Oct;39(2):189-94. Epub 2007 Jun 15.

PMID:
17574881
45.

Genetically heterogeneous origins of idiopathic erythrocytosis.

Percy MJ.

Hematology. 2007 Apr;12(2):131-9. Review.

PMID:
17454194
46.

Comparison of diagnostic criteria for polycythaemia vera.

Turkington RC, Arnold EC, Percy MJ, Ranaghan LA, Cuthbert RJ, McMullin MF.

Hematology. 2007 Apr;12(2):123-30.

PMID:
17454193
47.

The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3.

Hookham MB, Elliott J, Suessmuth Y, Staerk J, Ward AC, Vainchenker W, Percy MJ, McMullin MF, Constantinescu SN, Johnston JA.

Blood. 2007 Jun 1;109(11):4924-9. Epub 2007 Feb 22.

48.

A novel mutation, Ile289Thr, in the ALAS2 gene in a family with pyridoxine responsive sideroblastic anaemia.

Percy MJ, Cuthbert RJ, May A, McMullin MF.

J Clin Pathol. 2006 Sep;59(9):1002. No abstract available.

49.

Induction of signalling in non-erythroid cells by pharmacological levels of erythropoietin.

Dunlop EA, Percy MJ, Boland MP, Maxwell AP, Lappin TR.

Neurodegener Dis. 2006;3(1-2):94-100.

PMID:
16909043
50.

Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology.

Smith TG, Brooks JT, Balanos GM, Lappin TR, Layton DM, Leedham DL, Liu C, Maxwell PH, McMullin MF, McNamara CJ, Percy MJ, Pugh CW, Ratcliffe PJ, Talbot NP, Treacy M, Robbins PA.

PLoS Med. 2006 Jul;3(7):e290.

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