|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia.
|
27264129 |
2011 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
|
21185603 |
2011 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The lower ratio of XLT to classic WAS patients underestimates the burden of Taiwanese patients with WASP mutations, especially the XLT phenotype.
|
20232122 |
2010 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[WASP gene mutation analysis of a family of X-linked thrombocytopenia].
|
20959042 |
2010 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
|
20173115 |
2010 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
|
19817875 |
2009 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in WASP result in a wide spectrum of clinical manifestations ranging from the relatively mild X-linked thrombocytopenia to the classic full-blown WAS phenotype characterized by thrombocytopenia, immunodeficiency, eczema, and high susceptibility to developing tumors and autoimmune manifestations.
|
19351959 |
2009 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most mutations involved exon 1 of the WASP gene and none had the X-linked thrombocytopenia phenotype.
|
17703096 |
2008 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome protein gene mutations result in four clinical phenotypes: classic Wiskott-Aldrich syndrome and X-linked thrombocytopenia, intermittent thrombocytopenia and neutropenia.
|
18043243 |
2008 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated two novel mutations of the WASP gene in two Spanish families with patients clinically diagnosed as having XLT and WAS, respectively.
|
17390083 |
2007 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.
|
17400488 |
2007 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).
|
17213309 |
2007 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4.
|
16562789 |
2006 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.
|
16804117 |
2006 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the Wiskott-Aldrich syndrome protein (WASP) gene result either in the classic Wiskott-Aldrich syndrome (WAS) or in a less severe form, X-linked thrombocytopenia (XLT).
|
12969986 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of NK cell numbers and cytotoxic activity in patients carrying different mutations in the WASP coding gene indicated that although the percentage of NK cells was normal or increased, natural cytotoxicity and antibody-mediated NK cell cytotoxicity were inhibited in all patients with the classical WAS phenotype and in most patients carrying mutations associated with the X-linked thrombocytopenia (XLT) phenotype.
|
15001467 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
|
15284122 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by eczema, thrombocytopenia and increased susceptibility of infections, with mutations of the WAS gene being responsible for WAS and X-linked thrombocytopenia.
|
15469902 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical course of patients with WASP gene mutations.
|
12969986 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of WASP mutations in 10 unrelated Australian families presenting with clinical features of WAS/XLT.
|
15203732 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
WAS and XLT are caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene which encodes a 502-amino acid protein, named WASP.
|
15284122 |
2004 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT), characterized by chronic microthrombocytopenia with and without immunodeficiency, are caused by mutations of the WAS protein (WASP) gene.
|
14612666 |
2003 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP).
|
12591280 |
2003 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of WASP (Wiskott-Aldrich syndrome protein) underlie the severe immunodeficiency/platelet disorder Wiskott-Aldrich syndrome (WAS) and its milder variant X-linked thrombocytopenia (XLT).
|
12367583 |
2003 |
|
THROMBOCYTOPENIA 1 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.
|
14612666 |
2003 |