Associated Papers
[Primary familial and congenital polycythemia caused by EPOR gene mutation: two cases report and literature review].
Ning DH et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 2025
Dual α-globin-truncated erythropoietin receptor knockin restores hemoglobin production in α-thalassemia-derived erythroid cells.
Chu SN et al.
Cell Reports, 2025
Enhancement of erythropoietic output by Cas9-mediated insertion of a natural variant in haematopoietic stem and progenitor cells.
Luna SE et al.
Nature Biomedical Engineering, 2024
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Bhai P et al.
Current Oncology (toronto, Ont.), 2022
Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review.
Lo Riso L et al.
Genes, 2022
Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.
Gangat N et al.
Haematologica, 2022
Clinical Characteristics of Pediatric Patients with Congenital Erythrocytosis: A Single-Center Study.
Aylan Gelen S et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2022
JAK2 unmutated erythrocytosis: current diagnostic approach and therapeutic views.
Gangat N et al.
Leukemia, 2021
Novel t(1;8)(p31.3;q21.3) NFIA-RUNX1T1 Translocation in an Infant Erythroblastic Sarcoma.
King RL et al.
American Journal of Clinical Pathology, 2021
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.
Lalonde E et al.
Cold Spring Harbor Molecular Case Studies, 2021
De novo primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) NFIA/CBFA2T3 translocation.
Liu H et al.
Haematologica, 2020
Clinical characteristics of a Turkish family with congenital erythrocytosis due to an EPOR mutation: Is routine phlebotomy indicated in children and adolescents?
Sarper N et al.
Turk Pediatri Arsivi, 2020
New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis.
Pasquier F et al.
Haematologica, 2018
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
Oskarsson GR et al.
Communications Biology, 2018
Hereditary gene mutations in Korean patients with isolated erythrocytosis.
Jang JH et al.
Annals of Hematology, 2014
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
The influence of erythropoietin (EPO T → G) and α-actinin-3 (ACTN3 R577X) polymorphisms on runners' responses to the dietary ingestion of antioxidant supplementation based on pequi oil ( Caryocar brasiliense Camb.): a before-after study.
Ribeiro IF et al.
Journal of Nutrigenetics and Nutrigenomics, 2013
Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.
Rives S et al.
Haematologica, 2007
Genetically heterogeneous origins of idiopathic erythrocytosis.
Percy MJ
Hematology (amsterdam, Netherlands), 2007