Associated Papers
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.
Parisi X et al.
Journal of Clinical Pathology, 2024
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.
Xiao Y et al.
Frontiers in Immunology, 2024
Cyclic neutropenia and concomitant IgA nephropathy: a case report.
Kapogiannis C et al.
Bmc Nephrology, 2023
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Linder MI et al.
Blood, 2023
The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects.
Arab F et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2022
Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.
Jeong D et al.
Scientific Reports, 2022
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.
Grabowski P et al.
Molecular & Cellular Proteomics : Mcp, 2019
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death
Olcay L et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2018
Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events.
Okolo ON et al.
Case Reports in Hematology, 2017
Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
Lebel A et al.
Pediatric Blood & Cancer, 2015
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
Makaryan V et al.
Current Opinion in Hematology, 2015
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
Germeshausen M et al.
Human Mutation, 2013
A case of systemic amyloidosis associated with cyclic neutropenia.
Lee H et al.
Pediatric Nephrology (berlin, Germany), 2011
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.
Malcov M et al.
Prenatal Diagnosis, 2010
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
Xia J et al.
British Journal of Haematology, 2009
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
Bellanné-Chantelot C et al.
Blood, 2004