The JAK2 exon 12 mutations: A comprehensive review
LM Scott - American journal of hematology, 2011 - Wiley Online Library
A variety of acquired mutations targeting JAK2 exon 12 are present in those patients with the
myeloproliferative neoplasm, polycythemia vera, that lack the more common JAK2V617F …
myeloproliferative neoplasm, polycythemia vera, that lack the more common JAK2V617F …
Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations
F Passamonti, C Elena, S Schnittger… - Blood, The Journal …, 2011 - ashpublications.org
Although approximately 95% of patients with polycythemia vera (PV) harbor the V617F
mutation in JAK2 exon 14, several mutations in exon 12 have been described in the …
mutation in JAK2 exon 14, several mutations in exon 12 have been described in the …
Laboratory investigation of myeloproliferative neoplasms (MPNs) recommendations of the Canadian MPN group
L Busque, A Porwit, R Day, HJ Olney… - American Journal of …, 2016 - academic.oup.com
Objectives: To standardize diagnostic investigations for myeloproliferative neoplasms
(MPNs) to increase homogeneity in patient care and to streamline diagnostic approaches in …
(MPNs) to increase homogeneity in patient care and to streamline diagnostic approaches in …
How I treat polycythemia vera
AM Vannucchi - Blood, The Journal of the American Society of …, 2014 - ashpublications.org
Polycythemia vera (PV) is a chronic myeloproliferative neoplasm associated with JAK2
mutations (V617F or exon 12) in almost all cases. The World Health Organization has …
mutations (V617F or exon 12) in almost all cases. The World Health Organization has …
Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations
AJ Bench, HE White, L Foroni… - British journal of …, 2013 - Wiley Online Library
Molecular genetic assays for the detection of the JAK 2 V 617 F (c. 1849G> T) and other
pathogenetic mutations within JAK 2 exon 12 and MPL exon 10 are part of the routine …
pathogenetic mutations within JAK 2 exon 12 and MPL exon 10 are part of the routine …
The JAK2 V617F mutational status and allele burden may be related with the risk of venous thromboembolic events in patients with Philadelphia-negative …
Abstract Introduction Patients with Philadelphia-negative myeloproliferative neoplasms (Ph-
MPNs) are at increased risk of thromboembolic and hemorrhagic complications. The aim of …
MPNs) are at increased risk of thromboembolic and hemorrhagic complications. The aim of …
Identification of variants associated with rare hematological disorder erythrocytosis using targeted next-generation sequencing analysis
An erythrocytosis is present when the red blood cell mass is increased, demonstrated as
elevated hemoglobin and hematocrit in the laboratory evaluation. Congenital …
elevated hemoglobin and hematocrit in the laboratory evaluation. Congenital …
[HTML][HTML] Detection of CALR and MPL mutations in low allelic burden JAK2 V617F essential thrombocythemia
F Usseglio, N Beaufils, A Calleja, S Raynaud… - The Journal of Molecular …, 2017 - Elsevier
Myeloproliferative neoplasms are clonal hematopoietic stem cell disorders characterized by
aberrant proliferation and an increased tendency toward leukemic transformation. The …
aberrant proliferation and an increased tendency toward leukemic transformation. The …
Is high resolution melting analysis (HRMA) accurate for detection of human disease-associated mutations? A meta analysis
BS Li, XY Wang, FL Ma, B Jiang, XX Song, AG Xu - PLoS one, 2011 - journals.plos.org
Background High Resolution Melting Analysis (HRMA) is becoming the preferred method for
mutation detection. However, its accuracy in the individual clinical diagnostic setting is …
mutation detection. However, its accuracy in the individual clinical diagnostic setting is …
Diagnosis and management of non-clonal erythrocytosis remains challenging: a single centre clinical experience
S Anžej Doma, E Drnovšek, A Kristan, M Fink… - Annals of …, 2021 - Springer
Erythrocytosis has a diverse background. While polycythaemia vera has well defined
criteria, the diagnostic approach and management of other types of erythrocytosis are more …
criteria, the diagnostic approach and management of other types of erythrocytosis are more …