JAK2-neg. polyglobulie

H.  Cario, M.F. McMullin, C. Bento,  D.Pospisilova,  Melanie J. Percy,  Kais Hussein,  J.Schwarz

Erythrocytosis in Children and Adolescent-Classification, Characterization, and Consensus Recommendations for  the Diagnostic Approach

Pediatr Blood Cancer 2013; 60: 1734–1738

H. Cario, K. Schwarz, N. Jorch ,U. Kyank, P. E. Petrides, D. T. Schneider

Mutations in the von Hippel-Lindau (VHLK) tumor  suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis

Haematologica 2005; 90: 19-24

V. R. Gordeuk, D.W. Stockton, J.T. Prchal

Congenital polycythemias/ erythrocytoses

Haematologica 2005; 90: 109-116

K. Hussein, M. Percy , M. F. McMullin

Clinical utility gene card for: familial erythrocytosis

European Journal of Human Genetics 2012; 20

F. S. Lee, M.D, M. J. Percy, M. F. McMullin,  F.R.C.Path

Oxygen Sensing: Recent Insights from Idiopathic Erythrocytosis

Cell Cycle 2006; 5(9): 941–945

M. F. McMullin

Idiopathic erythrocytosis: a disappearing

American Society of Hematology 2009, 629-635

Y. D. Pastore, J. Jelinek, S. Ang, Y. Guan, E. Liu, K. Jedlickova

Mutations in the VHL gene in sporadic apparently congenital polycythemia

Blood 2003; 101: 1591-1595

_{M. J. Percy, F. S. Lee}

Familial erythrocytosis: molecular links to red blood cell control

Haematologica 2008; 93(7) 963-967

M. J. Percy, M. Sanchez, S. Swierczek, M. F. McMullin, M. P. Mojica-Henshaw, M. U. Muckenthaler

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

Blood 2007 110: 2776-2777

M. J. Percy

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

_{The Ulster Medical Society 2008; 77 (2) 86-88}

M. J. Percy, P. W. Furlow, P. A. Beer, T. R. J. Lappin, M. F. McMullin, F. S. Lee

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

Blood 2007; 110: 2193-2196

M. J. Percy, Q. Zhao, A. Flores, C. Harrison, T. R. J. Lappin , P. H. Maxwell

A family with erythrocytosis establishes a  role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

PNAS 2006; 103(3) 654–659

M. L. Randi, A. Murgia, M. C. Putti, M. Martella, A. Casarin, G. Opocher

Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin 

Haematologica 2005; 90: 689-691

A. Sergeyeva, V. R. Gordeuk, Y. N. Tokarev, L.Sokol, J.F. Prchal ,Josef T.Prchal

Congenital Polycythemia in Chuvashia

Blood 1997; 89: 2148-2154

L. Sokol, M. Luhovy, Y. Guan, J. F. Prchal, G. L. Sernenza, J. T. Prchal

Primary Familial Polycythemia:A Frameshift Mutation in the Erythropoietin Receptor Gene and Increased Sensitivity of Erythroid Progenitors to Erythropoietin

Blood 1995; 86: 15-22

N. L. Tomasic, L. Piterkova, Ch. Huff,  E. Bilic, D. Yoon, G. Y. Miasnikova

The phenotype of polycythemia due to Croatian homozygous VHL(571>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 5968C>T:R200W)

Haematologica 2013, 98(4) 560-567