Neutrophil elastase in cyclic and severe congenital neutropenia (Q35642863)

9 August 2017

1 reference

title

Neutrophil elastase in cyclic and severe congenital neutropenia (English)

1 reference

9 August 2017

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Marshall S Horwitz

1

1 reference

9 August 2017

Zhijun Duan

2

1 reference

9 August 2017

Brice Korkmaz

3

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9 August 2017

Hu-Hui Lee

4

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9 August 2017

Matthew E Mealiffe

5

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9 August 2017

Stephen J Salipante

6

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9 August 2017

language of work or name

English

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publication date

19 October 2006

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9 August 2017

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9 August 2017

volume

109

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9 August 2017

issue

5

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9 August 2017

page(s)

1817-1824

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LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia

9 August 2017

cites work

1 reference

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Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.

12 July 2018

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Lineage-specific hematopoietic growth factors

12 July 2018

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Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

12 July 2018

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Increased CCAAT enhancer-binding protein epsilon (C/EBPepsilon) expression and premature apoptosis in myeloid cells expressing Gfi-1 N382S mutant associated with severe congenital neutropenia

12 July 2018

1 reference

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The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

12 July 2018

1 reference

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Resolution of inflammation: the beginning programs the end

12 July 2018

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Monocyte and macrophage heterogeneity

12 July 2018

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Immune functions of proteinase 3.

12 July 2018

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A review of alpha-1 antitrypsin deficiency

12 July 2018

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A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia

12 July 2018

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Messenger RNA surveillance: neutralizing natural nonsense

12 July 2018

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Protein sorting in the Golgi complex: shifting paradigms

12 July 2018

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How neutrophils kill microbes

12 July 2018

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Gfi-1 takes center stage in hematopoietic stem cells

12 July 2018

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Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes.

12 July 2018

1 reference

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Neutrophil elastase is important for PML-retinoic acid receptor alpha activities in early myeloid cells

12 July 2018

1 reference

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Neutrophils and keratinocytes in innate immunity--cooperative actions to provide antimicrobial defense at the right time and place

12 July 2018

1 reference

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Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia.

12 July 2018

1 reference

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Congenital and acquired neutropenia

12 July 2018

1 reference

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Transcription factor Gfi1 regulates self-renewal and engraftment of hematopoietic stem cells

12 July 2018

1 reference

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Distinct activities of suppressor of cytokine signaling (SOCS) proteins and involvement of the SOCS box in controlling G-CSF signaling

12 July 2018

1 reference

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Hereditary neutropenia: dogs explain human neutrophil elastase mutations

12 July 2018

1 reference

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A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia

12 July 2018

1 reference

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Lymphoid Enhancer Factor-1 Links Two Hereditary Leukemia Syndromes through Core-binding Factor α Regulation of ELA2

12 July 2018

1 reference

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Proteolytic cleavage of granulocyte colony‐stimulating factor and its receptor by neutrophil elastase induces growth inhibition and decreased cell surface expression of the granulocyte colony‐stimulating factor receptor

12 July 2018

1 reference

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Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy.

12 July 2018

1 reference

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Gfi-1 Oncoproteins in Hematopoiesis

12 July 2018

1 reference

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Deletional Mutation of the External Domain of the Human Granulocyte Colony-Stimulating Factor Receptor in a Patient With Severe Chronic Neutropenia Refractory to Granulocyte Colony-Stimulating Factor

12 July 2018

1 reference

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Azurocidin -- inactive serine proteinase homolog acting as a multifunctional inflammatory mediator

12 July 2018

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

12 July 2018

1 reference

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Granulocyte colony-stimulating factor and its receptor in normal hematopoietic cell development and myeloid disease

12 July 2018

1 reference

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Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry

12 July 2018

1 reference

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Hermansky-Pudlak syndrome: vesicle formation from yeast to man.

12 July 2018

1 reference

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Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: implications for the regulation of granulopoiesis

12 July 2018

1 reference

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Kostmann syndrome and severe congenital neutropenia

12 July 2018

1 reference

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Dipeptidyl peptidase I activates neutrophil-derived serine proteases and regulates the development of acute experimental arthritis

12 July 2018

1 reference

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Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Serpins and other covalent protease inhibitors

12 July 2018

1 reference

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Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review

12 July 2018

1 reference

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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

12 July 2018

1 reference

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Degradation of outer membrane protein A in Escherichia coli killing by neutrophil elastase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

12 July 2018

1 reference

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Changes in chromatin organization at the neutrophil elastase locus associated with myeloid cell differentiation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Benign ethnic neutropenia: what is a normal absolute neutrophil count?

12 July 2018

1 reference

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Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

12 July 2018

1 reference

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The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Cyclical neutropenia and other periodic hematological disorders: a review of mechanisms and mathematical models.

12 July 2018

1 reference

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Frequency of point mutations in the gene for the G&hyphen;CSF receptor in patients with chronic neutropenia undergoing G&hyphen;CSF therapy

12 July 2018

1 reference

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AP-3: an adaptor-like protein complex with ubiquitous expression

12 July 2018

1 reference

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Antimicrobial peptides of leukocytes.

12 July 2018

1 reference

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Filgrastim (r-metHuG-CSF): the first 10 years.

12 July 2018

1 reference

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Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia

12 July 2018

1 reference

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Carboxyl-terminal prodomain-deleted human leukocyte elastase and cathepsin G are efficiently targeted to granules and enzymatically activated in the rat basophilic/mast cell line RBL.

12 July 2018

1 reference

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Canine cyclic neutropenia. A stem cell defect

12 July 2018

1 reference

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Role of chalone in granulopoiesis

12 July 2018

1 reference

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Severe congenital neutropenia with unique features of dysgranulopoiesis

12 July 2018

1 reference

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Myelomonocytic cell lineage expression of the neutrophil elastase gene

12 July 2018

1 reference

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Abnormal responses of myeloid progenitor cells to granulocyte-macrophage colony-stimulating factor in human cyclic neutropenia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Measurement of Serum Granulocyte Colony-Stimulating Factor in a Patient With Congenital Agranulocytosis (Kostmann's Syndrome)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Cyclic hemopoiesis and feedback control

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Cell Production and Cell Function in Human Cyclic Neutropenia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Differences between human proteinase 3 and neutrophil elastase and their murine homologues are relevant for murine model experiments

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Gfi-1 restricts proliferation and preserves functional integrity of haematopoietic stem cells

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

G-CSF receptor truncations found in SCN/AML relieve SOCS3-controlled inhibition of STAT5 but leave suppression of STAT3 intact

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

The significance of carbohydrates on G-CSF: differential sensitivity of G-CSFs to human neutrophil elastase degradation

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Granulocyte colony-stimulating factor induces the release in the bone marrow of proteases that cleave c-KIT receptor (CD117) from the surface of hematopoietic progenitor cells

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Deficiency of antibacterial peptides in patients with morbus Kostmann: an observation study.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Characterization of mutant neutrophil elastase in severe congenital neutropenia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Monocytes express high amounts of Notch and undergo cytokine specific apoptosis following interaction with the Notch ligand, Delta-1.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801070

Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1

15 November 2018

1 reference

12 December 2020

Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia

1 reference

12 December 2020

Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis

1 reference

12 December 2020

Dysregulation of transcriptions in primary granule constituents during myeloid proliferation and differentiation in patients with severe congenital neutropenia

1 reference

12 December 2020

Human cyclic neutropenia transferred by allogeneic bone marrow grafting

1 reference

12 December 2020

Severe congenital neutropenia: abnormal growth and differentiation of myeloid progenitors to granulocyte colony-stimulating factor (G-CSF) but normal response to G-CSF plus stem cell factor

1 reference

12 December 2020

Reversal of CAMAL-mediated alterations of normal and leukemic in vitro myelopoiesis using inhibitors of proteolytic activity

1 reference

12 December 2020

Mutations of the granulocyte-colony stimulating factor receptor in patients with severe congenital neutropenia are not required for transformation to acute myeloid leukaemia and may be a bystander phenomenon

1 reference

12 December 2020

Mice lacking neutrophil elastase reveal impaired host defense against gram negative bacterial sepsis

1 reference

12 December 2020

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response

1 reference

12 December 2020

A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter

1 reference

12 December 2020

Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia

1 reference

12 December 2020

Buccal swabs but not mouthwash samples can be used to obtain pretransplant DNA fingerprints from recipients of allogeneic bone marrow transplants

1 reference

12 December 2020

Spontaneous remission of granulocyte colony-stimulating factor-associated leukemia in a child with severe congenital neutropenia

1 reference

12 December 2020

Abnormalities of primitive myeloid progenitor cells expressing granulocyte colony-stimulating factor receptor in patients with severe congenital neutropenia

1 reference

12 December 2020

Significance of neutrophil elastase mutations versus G-CSF receptor mutations for leukemic progression of congenital neutropenia

1 reference

12 December 2020

Trisomy 21 and isodicentric chromosome 21 in Kostmann syndrome following treatment with G-CSF

1 reference

12 December 2020

Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease

1 reference

12 December 2020

Screening for G-CSF receptor mutations in patients with secondary myeloid or lymphoid transformation of severe congenital neutropenia. A report from the French neutropenia register

1 reference

12 December 2020

Oscillations of Granulocytic and Megakaryocytic Progenitor Cell Populations in Cyclic Neutropenia in Man

1 reference

12 December 2020

10.1182/BLOOD-2006-08-019166

Identifiers

DOI

1 reference

9 August 2017

1 reference

9 August 2017

1 reference