(Q33395402)

26 July 2017

2 references

31 December 2023

Congenital neutropenia: diagnosis, molecular bases and patient management (English)

1 reference

constitutional neutropenia

26 July 2017

1 reference

inferred from abstract

1 reference

Nizar Mahlaoui

4

0 references

Jean Donadieu

series ordinal

1

object named as

Jean Donadieu

1 reference

26 July 2017

3

Blandine Beaupain

1 reference

26 July 2017

2

Odile Fenneteau

1 reference

PubMed ID

21595885

Christine Bellanné-Chantelot

26 July 2017

series ordinal

5

object named as

Christine Bellanné Chantelot

1 reference

26 July 2017

19 May 2011

2 references

Orphanet Journal of Rare Diseases

26 July 2017

31 December 2023

2 references

26 July 2017

31 December 2023

6

1 reference

26 July 2017

26

1 reference

Creative Commons Attribution 2.0 Generic

26 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-6-26

31 December 2023

exact match

0 references

cites work

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Neutrophil elastase, proteinase 3, and cathepsin G as therapeutic targets in human diseases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Analysis of a French cohort of patients with large granular lymphocyte leukemia: a report on 229 cases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Primary immunodeficiencies: 2009 update

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Modulation of adaptive immunity with Toll-like receptors

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Prevalence, phenotype and inheritance of benign neutropenia in Arabs

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

NAMPT is essential for the G-CSF-induced myeloid differentiation via a NAD(+)-sirtuin-1-dependent pathway

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

A syndrome with congenital neutropenia and mutations in G6PC3

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): a case report

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

XLA-associated neutropenia treatment: a case report and review of the literature

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Duffy (Fy), DARC, and neutropenia among women from the United States, Europe and the Caribbean

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Intermittent chronic neutropenia in a patient with familial Mediterranean fever

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Hematological manifestations of copper deficiency: a retrospective review

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Neutrophil granules: a library of innate immunity proteins

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Prevalence of neutropenia in the U.S. population: age, sex, smoking status, and ethnic differences

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Acute myeloid leukemia or myelodysplastic syndrome following use of granulocyte colony-stimulating factors during breast cancer adjuvant chemotherapy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Neutrophil elastase in cyclic and severe congenital neutropenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Granulocyte colony-stimulating factor preferentially stimulates proliferation of monosomy 7 cells bearing the isoform IV receptor

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Hereditary periodic fever and reactive amyloidosis.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Determination of the critical concentration of neutrophils required to block bacterial growth in tissues

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Hereditary neutropenia: dogs explain human neutrophil elastase mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Lipomatous congenital hypoplasia of the exocrine pancreas in children. (2 cases and review of the literature)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

THE KINETICS OF GRANULOPOIESIS IN NORMAL MAN.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Chronic benign neutropenia in infancy and early childhood; report of a case with a review of the literature

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Defective cytotoxic granule-mediated cell death pathway impairs T lymphocyte homeostasis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Pyogenic bacterial infections in humans with IRAK-4 deficiency

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Mutations in SBDS are associated with Shwachman-Diamond syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Acute myelogenous leukemia and glycogen storage disease 1b.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

A critical concentration of neutrophils is required for effective bacterial killing in suspension

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Rhythms in human bone marrow and blood cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Risk and benefit of treatment of severe chronic neutropenia with granulocyte colony-stimulating factor

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Chronic neutropenia associated with autoimmune disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Idiopathic, immune, infectious, and idiosyncratic neutropenias

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Neutropenia associated with primary immunodeficiency syndromes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

14 July 2018

Glycogen storage disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Increased mortality in cartilage-hair hypoplasia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Cyclic neutropenia complicated by renal AA amyloidosis.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Prevalence of chronic idiopathic neutropenia of adults among an apparently healthy population living on the island of Crete

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)

14 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

14 July 2018

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Occurrence of periodic oscillations in the differential blood counts of congenital, idiopathic, and cyclical neutropenic patients before and during treatment with G-CSF.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Diagnosis and clinical course of autoimmune neutropenia in infancy: analysis of 240 cases.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann's syndrome).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Evans syndrome: results of a national survey

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

A European phase II study of recombinant human granulocyte colony-stimulating factor (lenograstim) in the treatment of severe chronic neutropenia in children. Lenograstim Study Group

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Thymoma and agranulocytosis: two case reports and literature review

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Predicting the risk of bacteremia in childen with fever and neutropenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

The identification of febrile, neutropenic children with neoplastic disease at low risk for bacteremia and complications of sepsis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Peripheral leukocyte count and leukocyte indexes in healthy newborn term infants

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Transformation of congenital neutropenia into monosomy 7 and acute nonlymphoblastic leukemia in a child treated with granulocyte colony-stimulating factor

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Phagocytosis of neutrophils by marrow macrophages in childhood chronic benign neutropenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Phagocytosis of neutrophil polymorphonuclears by macrophages in human bone marrow: importance in granulopoiesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Infection in bone marrow transplantation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Cyclophosphamide-induced cyclical neutropenia. An animal model of a human periodic disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Quantitative Relationships Between Circulating Leukocytes and Infection in Patients with Acute Leukemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Monocyte function in children with neutropenia and chronic infections

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

A case of chronic granulocytopenia associated with vasculitis and amyloidosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

The question of cycling of the blood neutrophil concentrations and pitfalls in the statistical analysis of sampled data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

A neutrophil cycle in healthy individuals

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Autoimmune neutropenia of infancy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Trimethoprim-sulphamethoxazole-associated blood dyscrasias. Ten years' experience of the Swedish spontaneous reporting system

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Neutropenia associated with X-linked agammaglobulinaemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Trichothiodystrophy with chronic neutropenia and mild mental retardation.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

A familial occurrence of natural killer cell-T-lymphocyte proliferation disease in two children

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Cytometry and Time-Dependent Variations in Peripheral Blood and Bone Marrow Cells: A Literature Review and Relevance to the Chronotherapy of Cancer

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

The Sweet syndrome during therapy with granulocyte colony-stimulating factor

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Infantile genetic agranulocytosis. A review with presentation of ten new cases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Simple mathematical models with very complicated dynamics

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Chronic neutropenia in childhood. Analysis of 16 cases and a review of the literature

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

The neonatal blood count in health and disease.I. Reference values for neutrophilic cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

A case of generalized amyloidosis associated with cyclic neutropenia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

A prospective controlled investigation of prophylactic trimethoprim/sulfamethoxazole in hospitalized granulocytopenic patients

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Congenital agranulocytosis terminating in acute myelomonocytic leukemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Syndrome of Shwachman and Leukaemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.

14 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Cell kinetic status of haematopoietic stem cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Primary immunodeficiency disorders in the Republic of Ireland: first report of the national registry in children and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Novel mechanism of G-CSF refractoriness in patients with severe congenital neutropenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Neutrophil development and function critically depend on Bruton tyrosine kinase in a mouse model of X-linked agammaglobulinemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

CD40 ligand deficiency presenting as unresponsive neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Efficacy and safety of two different rG-CSF preparations in the treatment of patients with severe congenital neutropenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Pegfilgrastim in children with severe congenital neutropenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Kostmann's disease, recombinant HuG-CSF, monosomy 7 and MDS/AML.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Risk factors for evolution of acquired aplastic anemia into myelodysplastic syndrome and acute myeloid leukemia after immunosuppressive therapy in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Risk of secondary leukemia after a solid tumor in childhood according to the dose of epipodophyllotoxins and anthracyclines: a case-control study by the Société Française d'Oncologie Pédiatrique.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Acute myeloid leukemia and myelodysplastic syndrome after doxorubicin-cyclophosphamide adjuvant therapy for operable breast cancer: the National Surgical Adjuvant Breast and Bowel Project Experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

The rate of apoptosis in post mitotic neutrophil precursors of normal and neutropenic humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Vitamin D3 induces pro-LL-37 expression in myeloid precursors from patients with severe congenital neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

The French national registry of primary immunodeficiency diseases.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Neutropenia associated with X-linked Agammaglobulinemia in an Iranian referral center.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Shwachman-diamond syndrome.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Arrested maturation of granulocytes in copper deficient mice.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

The discovery, development and clinical applications of granulocyte colony-stimulating factor.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Congenital agranulocytosis: prolonged survival and terminal acute leukemia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

Correction of infantile agranulocytosis (Kostmann's syndrome) by allogeneic bone marrow transplantation

31 October 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Infectious and bleeding complications in patients with glycogenosis Ib

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127744

HIV blocked by chemokine antagonist

31 October 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-26

Periodontal changes associated with chronic idiopathic neutropenia

21 January 2018

1 reference

12 December 2020

The incidence of primary immunodeficiency syndromes in Israel

1 reference

12 December 2020

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings

1 reference

12 December 2020

Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment

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

Possibility of somatic mosaicism of ELA2 mutation overlooked in an asymptomatic father transmitting severe congenital neutropenia to two offspring

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

Circadian phase relationships between peripheral blood variables and bone marrow proliferative activity in clinical health

1 reference

12 December 2020

[Elective phagocytosis of polynuclear neutrophils caused by medullary macrophages and autoimmune neutropenia in children]

1 reference

12 December 2020

Familial partial monosomy 7 and myelodysplasia

1 reference

12 December 2020

Acute monocytic leukemia in a patient with severe congenital neutropenia after treatment with recombinant human granulocyte colony-stimulating factor

1 reference

12 December 2020

Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance

1 reference

12 December 2020

Leukaemia and agranulocytosis in a member of a family with hereditary leukopenia

1 reference

12 December 2020

Neutrophil elastase-processing defect in cyclic hematopoietic dogs

1 reference

12 December 2020

G-CSF-induced aneuploidy does not affect CD34+ cells and does not require cell division

1 reference

12 December 2020

Behçet's disease and chronic neutropenia

1 reference

12 December 2020

Treatment with lenograstim (glycosylated recombinant human granulocyte colony-stimulating factor) and orthotopic liver transplantation for glycogen storage disease type Ib

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

Long-term treatment of canine cyclic hematopoiesis with recombinant canine stem cell factor

1 reference

12 December 2020

Frequency and Clinical Manifestations of Patients with Primary Immunodeficiency Disorders in Iran: Update from the Iranian Primary Immunodeficiency Registry

1 reference

12 December 2020

Familial acute myeloid leukemia with monosomy 7: late onset and involvement of a multipotential progenitor cell

1 reference

12 December 2020

Shwachman-Diamond syndrome

1 reference

12 December 2020

A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents

1 reference

12 December 2020

Substitution of cyclophosphamide and busulfan by fludarabine, treosulfan and melphalan in a preparative regimen for children and adolescents with Shwachman-Diamond syndrome

1 reference

12 December 2020

Severe neutropenia caused by copper deficiency in a child receiving continuous ambulatory peritoneal dialysis

1 reference

12 December 2020

Terminal acute myelogenous leukemia in a patient with congenital agranulocytosis

1 reference

12 December 2020

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

1 reference

12 December 2020

Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia

1 reference

12 December 2020

Differentiation of segmented and band neutrophils during the early newborn period

1 reference

12 December 2020

Periodic (cyclic) neutropenia, an entity; a collection of 16 cases

1 reference

12 December 2020

Exacerbation of pseudogout by granulocyte colony-stimulating factor

1 reference

12 December 2020

Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis

1 reference

12 December 2020

Registries for robust evidence

1 reference

12 December 2020

Magnetic resonance imaging for diagnosis of Shwachman's syndrome

1 reference

12 December 2020

Dysplastic changes in the peripheral blood of children with microdeletion 22q11.2.

1 reference

12 December 2020

Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia

1 reference

12 December 2020

Granulocytopenia in Cohen syndrome

1 reference

12 December 2020

Granulocyte colony-stimulating factor: key (f)actor or innocent bystander in the development of secondary myeloid malignancy?

1 reference

12 December 2020

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

1 reference

12 December 2020

Kinetic Studies of51Cr and DF32P Labelled Granulocytes

1 reference

12 December 2020

Investigation of the effect of marathon running on leucocyte counts of subjects of different ethnic origins: relevance to the aetiology of ethnic neutropenia

1 reference

12 December 2020

Hyperglycinemia with ketoacidosis and leukopenia. Metabolic studies on the nature of the defect

1 reference

12 December 2020

Hematopoietic stem cell transplantation in patients with severe congenital neutropenia: an analysis of 18 Japanese cases

1 reference

12 December 2020

Resolution of cyclic neutropenia by intramuscular gamma globulin in a case of common variable immunodeficiency with predominantly antibody deficiency

1 reference

12 December 2020

Chromosome 20q deletion and progression to monosomy 7 in a patient with Shwachman-Diamond syndrome without MDS/AML

1 reference

12 December 2020

"MYELOKATHEXIS"--A NEW FORM OF CHRONIC GRANULOCYTOPENIA. REPORT OF A CASE

1 reference

12 December 2020

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

1 reference

12 December 2020

Impaired natural killer cell recycling in childhood chronic neutropenia with morphological abnormalities and defective chemotaxis of neutrophils

1 reference

12 December 2020

Granulocyte colony-stimulating factor receptor mutations in a patient with acute lymphoblastic leukemia secondary to severe congenital neutropenia

1 reference

12 December 2020

Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults

1 reference

12 December 2020

Granulocyte-stimulating factor and severe aplastic anemia: a survey by the European Group for Blood and Marrow Transplantation (EBMT)

1 reference

12 December 2020

Differential effect of GM-CSF and G-CSF in cyclic neutropenia

1 reference

12 December 2020

[Antibiotic strategy for febrile episodes during severe (less than 500 PNN) and prolonged (greater than or equal to 7 days) neutropenia. Recommendations of the Evaluation Committee of the Collège Français des Hematologistes]

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-26

1 reference

PubMed ID

21595885

Dimensions Publication ID

26 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-6-26

9 September 2019

1 reference

26 July 2017

1 reference

PubMed ID

21595885