(Q37165474)

18 August 2017

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title

Familial chronic myeloproliferative disorders: the state of the art. (English)

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myeloproliferative disorders

18 August 2017

main subject

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Elisa Rumi

1

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18 August 2017

publication date

1 September 2008

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18 August 2017

published in

Hematological Oncology

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18 August 2017

volume

26

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18 August 2017

issue

3

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18 August 2017

page(s)

131-138

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Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders

18 August 2017

cites work

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A nuclear factor induced by hypoxia via de novo protein synthesis binds to the human erythropoietin gene enhancer at a site required for transcriptional activation

21 January 2018

1 reference

Detection of mutant hemoglobins with altered affinity for oxygen. A simplified technique

21 January 2018

1 reference

Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia

21 January 2018

1 reference

The genetic basis of myeloproliferative disorders

21 January 2018

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The World Health Organization (WHO) classification of the myeloid neoplasms

21 January 2018

1 reference

7 January 2021

Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel

1 reference

7 January 2021

Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis

1 reference

7 January 2021

A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera

1 reference

7 January 2021

A gain-of-function mutation of JAK2 in myeloproliferative disorders

1 reference

7 January 2021

Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation

1 reference

7 January 2021

Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders.

1 reference

7 January 2021

Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.

1 reference

7 January 2021

V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.

1 reference

7 January 2021

Clinical implications of the JAK2 V617F mutation in essential thrombocythemia.

1 reference

7 January 2021

JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance

1 reference

7 January 2021

Clinical correlates of JAK2V617F allele burden in essential thrombocythemia

1 reference

7 January 2021

The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates

1 reference

7 January 2021

Molecular mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2 V617F and Mpl expression

1 reference

7 January 2021

JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis

1 reference

7 January 2021

Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders

1 reference

7 January 2021

MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia

1 reference

7 January 2021

MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients

1 reference

7 January 2021

Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia

1 reference

7 January 2021

Myelofibrosis with myeloid metaplasia

1 reference

7 January 2021

Risk stratification for survival and leukemic transformation in essential thrombocythemia: a single institutional study of 605 patients

1 reference

7 January 2021

Leukemic transformation of polycythemia vera: a single center study of 23 patients

1 reference

7 January 2021

Frequency and risk factors for thrombosis in idiopathic myelofibrosis: analysis in a series of 155 patients from a single institution

1 reference

7 January 2021

Leukemic transformation in myelofibrosis with myeloid metaplasia: a single-institution experience with 91 cases

1 reference

7 January 2021

Acute leukemia in polycythemia vera: an analysis of 1638 patients enrolled in a prospective observational study

1 reference

7 January 2021

Myelofibrosis with myeloid metaplasia following essential thrombocythaemia: actuarial probability, presenting characteristics and evolution in a series of 195 patients

1 reference

7 January 2021

Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders

1 reference

7 January 2021

Familial Chronic Myeloproliferative Disorders: Clinical Phenotype and Evidence of Disease Anticipation

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7 January 2021

JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders.

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7 January 2021

Molecular pathogenesis of Philadelphia chromosome negative myeloproliferative disorders

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7 January 2021

Pathogenetic mechanisms of polycythemia vera and congenital polycythemic disorders

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7 January 2021

Erythrocytosis due to a mutation in the erythropoietin receptor gene

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7 January 2021

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis

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7 January 2021

Familial Polycythemia

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7 January 2021

Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin

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7 January 2021

Genetic heterogeneity of primary familial and congenital polycythemia

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7 January 2021

Expression of erythropoietin receptor splice variants in human cancer.

1 reference

7 January 2021

Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia

1 reference

7 January 2021

Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis

1 reference

7 January 2021

Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor

1 reference

7 January 2021

Erythropoietin receptor defect: a cause of primary polycythaemia.

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7 January 2021

Hypoxia-inducible factor 1: control of oxygen homeostasis in health and disease

1 reference

7 January 2021

Targeting HIF-1 for cancer therapy

1 reference

7 January 2021

Proline hydroxylation and gene expression

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7 January 2021

Endemic polycythemia in Russia: mutation in the VHL gene.

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7 January 2021

Mutations in the VHL gene in sporadic apparently congenital polycythemia

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7 January 2021

Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

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7 January 2021

Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry

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7 January 2021

Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

1 reference

7 January 2021

Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors

1 reference

7 January 2021

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

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7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

1 reference

7 January 2021

The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes

1 reference

7 January 2021

Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.

1 reference

7 January 2021

Hereditary pyruvate kinase abnormalities associated with erythrocytosis

1 reference

7 January 2021

Diagnostic approach to hemoglobinopathies

1 reference

7 January 2021

Hb Malmö [beta-97(FG-4)His-->Gln] leading to polycythemia in a Dutch family

1 reference

7 January 2021

An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.

1 reference

7 January 2021

Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene

1 reference

7 January 2021

Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin

1 reference

7 January 2021

Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia

1 reference

7 January 2021

Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis

1 reference

7 January 2021

A family with hereditary thrombocythaemia and normal genes for thrombopoietin and c-Mpl

1 reference

7 January 2021

Genes for thrombopoietin and c-mpl are not responsible for familial thrombocythaemia: a case study

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7 January 2021

Hereditary thrombocythaemia is a genetically heterogeneous disorder: exclusion of TPO and MPL in two families with hereditary thrombocythaemia

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7 January 2021

A case of familial thrombocytosis: possible role of altered thrombopoietin production

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7 January 2021

Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease

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7 January 2021

Polycythemia vera in identical twins

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7 January 2021

Familial polycythemia vera in father and daughter

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7 January 2021

Familial myeloproliferative syndrome.

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7 January 2021

The JAK2V617F mutation is acquired secondary to the predisposing alteration in familial polycythaemia vera

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7 January 2021

Discordant distribution of JAK2V617F mutation in siblings with familial myeloproliferative disorders

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7 January 2021

Familial polycythemia vera with non-germline JAK2(V617F) mutation sparing the abnormal and clonal granulopoiesis

1 reference

7 January 2021

Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia

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7 January 2021

Anticipation in familial plasma cell dyscrasias

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7 January 2021

Anticipation in familial chronic lymphocytic leukaemia.

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7 January 2021

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

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7 January 2021

The JAK2(V617F) mutation may be present several years before the occurrence of overt myeloproliferative disorders

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7 January 2021

Identifiers

DOI

10.1002/HON.863

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18 August 2017

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