|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
|
25703294 |
2016 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
|
25427142 |
2015 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
|
24523240 |
2014 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
|
23463630 |
2013 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
|
23463630 |
2013 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
|
23463630 |
2013 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.
|
20803142 |
2011 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Four novel ELANE mutations in patients with congenital neutropenia.
|
21425445 |
2011 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Digenic mutations in severe congenital neutropenia.
|
20220065 |
2010 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Pegfilgrastim in children with severe congenital neutropenia.
|
19927291 |
2010 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.
|
20049848 |
2010 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
|
19036076 |
2009 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Ela2 mutations and clinical manifestations in familial congenital neutropenia.
|
19415009 |
2009 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
|
19036076 |
2009 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.
|
18946670 |
2009 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
|
18611981 |
2008 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.
|
17436313 |
2007 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia.
|
17391497 |
2007 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Neutrophil elastase in cyclic and severe congenital neutropenia.
|
17053055 |
2007 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
|
14962902 |
2004 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
|
14962902 |
2004 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.
|
12091371 |
2002 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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.
|
11675333 |
2001 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
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.
|
11675333 |
2001 |
|
Neutropenia, Severe Congenital, Autosomal Dominant 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
11675333 |
2001 |