Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection ofJAK2V617F and other relevant mutations

GermlineJAK2Mutation in a Family with Hereditary Thrombocytosis

(2012) Adam J. Mead et al.   NEW ENGLAND JOURNAL OF MEDICINE

EZH2 mutational status predicts poor survival in myelofibrosis

(2011) P. Guglielmelli et al.   BLOOD

Concomitant occurrence of BCR-ABL and JAK2V617F mutation

(2011) L. Pieri et al.   BLOOD

Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations

(2011) F. Passamonti et al.   BLOOD

MPL Mutation Profile in JAK2 Mutation-negative Patients With Myeloproliferative Disorders

(2011) Wanlong Ma et al.   DIAGNOSTIC MOLECULAR PATHOLOGY

Myeloproliferative Neoplasms: Molecular Pathophysiology, Essential Clinical Understanding, and Treatment Strategies

(2011) Ayalew Tefferi et al.   JOURNAL OF CLINICAL ONCOLOGY

Pitfalls in molecular diagnosis in haemato-oncology

(2011) J. Mason et al.   JOURNAL OF CLINICAL PATHOLOGY

Uses and Abuses of JAK2 and MPL Mutation Tests in Myeloproliferative Neoplasms

(2011) Ayalew Tefferi et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Primary myelofibrosis with or without mutant MPL: comparison of survival and clinical features involving 603 patients

(2011) A Pardanani et al.   LEUKEMIA

Development and Inter-Laboratory Validation of Unlabeled Probe Melting Curve Analysis for Detection of JAK2 V617F Mutation in Polycythemia Vera

(2011) Zhiyuan Wu et al.   PLoS One

Failure of the Ipsogen MutaScreen kit to detect the JAK2 617V>F mutation in samples with additional rare exon 14 mutations: implications for clinical testing and report of a novel 618C>F mutation in addition to 617V>F

(2010) I. Warshawsky et al.   BLOOD

Clinical utility of routineMPLexon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis

(2010) Elaine M. Boyd et al.   BRITISH JOURNAL OF HAEMATOLOGY

Guideline for investigation and management of adults and children presenting with a thrombocytosis

(2010) Claire N. Harrison et al.   BRITISH JOURNAL OF HAEMATOLOGY

Rapid detection of JAK2 V617F mutation using high-resolution melting analysis with LightScanner platform

(2010) Jun Qian et al.   CLINICA CHIMICA ACTA

A standardized framework for the validation and verification of clinical molecular genetic tests

(2010) Christopher J Mattocks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hydroxyurea does not appreciably reduce JAK2 V617F allele burden in patients with polycythemia vera or essential thrombocythemia

(2010) E. Antonioli et al.   HAEMATOLOGICA

The JAK2 V617F somatic mutation, mortality and cancer risk in the general population

(2010) C. Nielsen et al.   HAEMATOLOGICA

Hereditary myeloproliferative disorders

(2010) R. C. Skoda   HAEMATOLOGICA

A Real-Time Polymerase Chain Reaction Assay for Rapid, Sensitive, and Specific Quantification of the JAK2V617F Mutation Using a Locked Nucleic Acid-Modified Oligonucleotide

(2010) Barbara Denys et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Detection of Exon 12 Mutations in the JAK2 Gene

(2010) Todd S. Laughlin et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5

(2010) C Cleyrat et al.   LEUKEMIA

Interlaboratory Development and Validation of a HRM Method Applied to the Detection of JAK2 Exon 12 Mutations in Polycythemia Vera Patients

(2010) Valerie Ugo et al.   PLoS One

Clinical Performance ofJAK2V617F Mutation Detection Assays in a Molecular Diagnostics Laboratory

(2009) Milena Cankovic et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

JAK2V617F mutation for the early diagnosis of Ph- myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis

(2009) F. Dentali et al.   BLOOD

Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones

(2009) Philip A. Beer et al.   BRITISH JOURNAL OF HAEMATOLOGY

Clinical relevance of JAK2 (V617F) mutant allele burden

(2009) F. Passamonti et al.   HAEMATOLOGICA

Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera

(2009) S. Schnittger et al.   HAEMATOLOGICA

High Resolution Melting Analysis for JAK2 Exon 14 and Exon 12 Mutations

(2009) Inmaculada Rapado et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A new TMHA‐DHPLC assay for the rapid mutation screening of JAK2 exon 14 in myeloproliferative disorders

(2008) Elena Albiero et al.   AMERICAN JOURNAL OF HEMATOLOGY

Higher detection rate of JAK2 mutation using plasma

(2008) W. Ma et al.   BLOOD

MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort

(2008) P. A. Beer et al.   BLOOD

Frequent reduction or absence of detection of the JAK2-mutated clone in JAK2V617F-positive patients within the first years of hydroxyurea therapy

(2008) F. Girodon et al.   HAEMATOLOGICA

Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis

(2008) A. V. Jones et al.   HAEMATOLOGICA

JAK2V617F mutation status identifies subtypes of refractory anemia with ringed sideroblasts associated with marked thrombocytosis

(2008) A. H. Schmitt-Graeff et al.   HAEMATOLOGICA

Concordance of assays designed for the quantification of JAK2V617F: a multicenter study

(2008) E. Lippert et al.   HAEMATOLOGICA

Characterization of 35 new cases with four different MPLW515 mutations and essential thrombocytosis or primary myelofibrosis

(2008) S. Schnittger et al.   HAEMATOLOGICA

Rapid real-time PCR assay for detection ofMPL W515Lmutation in patients with chronic myeloproliferative disorders

(2008) M. GHADERI et al.   International Journal of Laboratory Hematology

A Sensitive Detection Method for MPLW515L or MPLW515K Mutation in Chronic Myeloproliferative Disorders with Locked Nucleic Acid-Modified Probes and Real-Time Polymerase Chain Reaction

(2008) Alessandro Pancrazzi et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition

(2008) R Chaligné et al.   LEUKEMIA