Associated Papers
Real-World Impact of Deep Targeted Sequencing on Erythrocytosis and Thrombocytosis Diagnosis: A Reference Centre Experience.
Blanco-Sánchez A et al.
Cancers, 2024
39335122 (PubMed )
Supplement: cancers-16-03149-s001.zip › cancers-3188970-supplementary.pdf
Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.
Benetti A et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2024
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
Sochorcova L et al.
British Journal of Haematology, 2023
Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review.
Lo Riso L et al.
Genes, 2022
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
Pre-B acute lymphoblastic leukaemia recurrent fusion, EP300-ZNF384, is associated with a distinct gene expression.
McClure BJ et al.
British Journal of Cancer, 2018
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
Oskarsson GR et al.
Communications Biology, 2018
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
Bento C et al.
European Journal of Haematology, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene.
Al-Sheikh M et al.
Haematologica, 2008
Genetically heterogeneous origins of idiopathic erythrocytosis.
Percy MJ
Hematology (amsterdam, Netherlands), 2007
Abnormalities of cytokine receptor signalling contributing to diseases of red blood cell production.
Goyal RK et al.
Annals of Medicine, 1999
Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies.
Le Couedic JP et al.
Blood, 1996
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