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Heterozygous variants of CLPB are a cause of severe congenital neutropenia

Blood, 2022-02, Vol.139 (5), p.779-791

2022

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The diversity of mutations and clinical outcomes for ELANE-associated neutropenia

Current opinion in hematology, 2015-01, Vol.22 (1), p.3-11

2015

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Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome

Blood, 2020-12, Vol.136 (26), p.2994-3003

2020

Volltextzugriff (PDF)

The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome

Blood, 2011-11, Vol.118 (18), p.4963-4966

2011

Volltextzugriff (PDF)

Elastase inhibitors as potential therapies for ELANE‐associated neutropenia

Journal of leukocyte biology, 2017-10, Vol.102 (4), p.1143-1151

2017

Volltextzugriff (PDF)

Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor

Current opinion in hematology, 2019-01, Vol.26 (1), p.16

2019

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Use of granulocyte colony-stimulating factor during pregnancy in women with chronic neutropenia

Obstetrics and gynecology (New York. 1953), 2015-01, Vol.125 (1), p.197-203

2015

Volltextzugriff (PDF)

P755: STUDIES OF THE SPECIFIC TCIRG1 MUTATIONS CAUSING CONGENITAL NEUTROPENIA

HemaSphere, 2023-08, Vol.7 (S3), p.e948596e-n/a

2023

Volltextzugriff (PDF)

Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome

Current opinion in hematology, 2020-01, Vol.27 (1), p.11

2020

Volltextzugriff (PDF)

TCIRG1-Associated Congenital Neutropenia

Human mutation, 2014-07, Vol.35 (7), p.824-827

2014

Volltextzugriff (PDF)

A Glycoprotein Hormone Expressed in Corticotrophs Exhibits Unique Binding Properties on Thyroid-Stimulating Hormone Receptor

Molecular endocrinology (Baltimore, Md.), 2006-02, Vol.20 (2), p.414-425

2006

Volltextzugriff (PDF)

The Effect of Neutrophil Elastase Inhibitors on in-Vitro Myeloid Differentiation of CD34+ Cells of Patients with ELANE Associated Neutropenia

Blood, 2022-11, Vol.140 (Supplement 1), p.2617-2617

2022

Volltextzugriff (PDF)

Novel TCIRG1 Mutations Causing Congenital Neutropenia

Blood, 2022-11, Vol.140 (Supplement 1), p.8334-8335

2022

Volltextzugriff (PDF)

Spectrum of Pathogenic Genetic Variants in a Large Cohort of North American Congenital and Cyclic Neutropenia Patients: A Report from the Severe Chronic Neutropenia International Registry

Blood, 2021-11, Vol.138 (Supplement 1), p.2059-2059

2021

Volltextzugriff (PDF)

The Effect of the MK0339 Neutrophil Elastase Inhibitor on Proliferation and Maturation of iPSC Derived from Patients with ELANE, TCIRG1 and Whim Syndrome Associated Neutropenia

Blood, 2017-12, Vol.130, p.545-545

2017

Volltextzugriff (PDF)

Family Studies of Whim Syndrome

Blood, 2019-11, Vol.134 (Supplement_1), p.215-215

2019

Volltextzugriff (PDF)

CRISPR/Cas9 Mediated ELANE Knock-out Restores Survival and Granulocytic Differentiation of HL60 Cells Expressing Mutant Neutrophil Elastase: Is Neutrophil Elastase a Dispensible Granulocyte Protease?

Blood, 2019-11, Vol.134 (Supplement_1), p.435-435

2019

Volltextzugriff (PDF)

The Effects of the Neutrophil Elastase Inhibitors MK0339 and Sivelestat on the Survival, Proliferation and Maturation of iPSC and HL60 Cells Expressing Mutant Neutrophil Elastase

Blood, 2016-12, Vol.128 (22), p.406-406

2016

Volltextzugriff (PDF)

CRISPR/Cas9 Knock-in HL60 Cells Closely Simulate Cellular and Functional Abnormalities of ELANE associated Neutropenia; Phenotype Rescue with MK-0339 Neutrophil Elastase Inhibitor

Blood, 2018-11, Vol.132 (Supplement 1), p.3683-3683

2018

Volltextzugriff (PDF)

X4P-001: A Novel Molecularly-Targeted Oral Therapy for Whim Syndrome

Blood, 2017-12, Vol.130 (Suppl_1), p.995-995

2017

Volltextzugriff (PDF)

Determination of Phase 3 Dose for X4P-001 in Patients with WHIM Syndrome

Blood, 2018-11, Vol.132 (Supplement 1), p.1102-1102

2018

Volltextzugriff (PDF)

A Novel Device Suitable for Home Monitoring of White Blood Cell and Neutrophil Counts

Blood, 2018-11, Vol.132 (Supplement 1), p.1103-1103

2018

Volltextzugriff (PDF)

Termination and Frameshift Mutations in ELANE Are Associated with Adverse Outcomes in Patients with Severe Chronic Neutropenia

Blood, 2016-12, Vol.128 (22), p.1326-1326

2016

Volltextzugriff (PDF)

TCIRG1 Mutations As a Cause for Chronic Neutropenia

Blood, 2016-12, Vol.128 (22), p.2511-2511

2016

Volltextzugriff (PDF)

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Heterozygous variants of CLPB are a cause of severe congenital neutropenia

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia

Results of a phase 2 trial of an oral CXCR4 antagonist, mavorixafor, for treatment of WHIM syndrome

The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndrome

Elastase inhibitors as potential therapies for ELANE‐associated neutropenia

Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor

Use of granulocyte colony-stimulating factor during pregnancy in women with chronic neutropenia

P755: STUDIES OF THE SPECIFIC TCIRG1 MUTATIONS CAUSING CONGENITAL NEUTROPENIA

Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome

TCIRG1-Associated Congenital Neutropenia

A Glycoprotein Hormone Expressed in Corticotrophs Exhibits Unique Binding Properties on Thyroid-Stimulating Hormone Receptor

The Effect of Neutrophil Elastase Inhibitors on in-Vitro Myeloid Differentiation of CD34+ Cells of Patients with ELANE Associated Neutropenia

Novel TCIRG1 Mutations Causing Congenital Neutropenia

Spectrum of Pathogenic Genetic Variants in a Large Cohort of North American Congenital and Cyclic Neutropenia Patients: A Report from the Severe Chronic Neutropenia International Registry

The Effect of the MK0339 Neutrophil Elastase Inhibitor on Proliferation and Maturation of iPSC Derived from Patients with ELANE, TCIRG1 and Whim Syndrome Associated Neutropenia

Family Studies of Whim Syndrome

CRISPR/Cas9 Mediated ELANE Knock-out Restores Survival and Granulocytic Differentiation of HL60 Cells Expressing Mutant Neutrophil Elastase: Is Neutrophil Elastase a Dispensible Granulocyte Protease?

The Effects of the Neutrophil Elastase Inhibitors MK0339 and Sivelestat on the Survival, Proliferation and Maturation of iPSC and HL60 Cells Expressing Mutant Neutrophil Elastase

CRISPR/Cas9 Knock-in HL60 Cells Closely Simulate Cellular and Functional Abnormalities of ELANE associated Neutropenia; Phenotype Rescue with MK-0339 Neutrophil Elastase Inhibitor

The Morphologic Spectrum of Myelokathexis in WHIM Syndrome and Germline CXCR4 Variants: New Insights into Cellular Changes in the Bone Marrow and Peripheral Blood

X4P-001: A Novel Molecularly-Targeted Oral Therapy for Whim Syndrome

Determination of Phase 3 Dose for X4P-001 in Patients with WHIM Syndrome

A Novel Device Suitable for Home Monitoring of White Blood Cell and Neutrophil Counts

Termination and Frameshift Mutations in ELANE Are Associated with Adverse Outcomes in Patients with Severe Chronic Neutropenia

TCIRG1 Mutations As a Cause for Chronic Neutropenia

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