|
Ichthyosis Vulgaris
|
|
0.740 |
CausalMutation
|
CLINVAR |
Filaggrin compound heterozygous patients carry mutations in trans position.
|
23947670 |
2013 |
|
Ichthyosis Vulgaris
|
|
0.740 |
CausalMutation
|
CLINVAR |
Interplay of filaggrin loss-of-function variants, allergic sensitization, and eczema in a longitudinal study covering infancy to 18 years of age.
|
22403702 |
2012 |
|
Ichthyosis Vulgaris
|
|
0.740 |
CausalMutation
|
CLINVAR |
Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.
|
21514438 |
2011 |
|
Ichthyosis Vulgaris
|
|
0.740 |
CausalMutation
|
CLINVAR |
Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis.
|
19874431 |
2010 |
|
Ichthyosis Vulgaris
|
|
0.740 |
CausalMutation
|
CLINVAR |
Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure.
|
19839980 |
2009 |
|
Ichthyosis Vulgaris
|
|
0.740 |
CausalMutation
|
CLINVAR |
Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease.
|
19501237 |
2009 |
|
Ichthyosis Vulgaris
|
|
0.740 |
CausalMutation
|
CLINVAR |
The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study.
|
18325573 |
2008 |
|
Ichthyosis Vulgaris
|
|
0.740 |
GeneticVariation
|
BEFREE |
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.
|
17164798 |
2007 |
|
Ichthyosis Vulgaris
|
|
0.740 |
GeneticVariation
|
BEFREE |
Two loss-of-function mutations in the filaggrin (FLG) gene, R501X and 2282del4, were identified as causative for ichthyosis vulgaris in 15 affected European families, and the mode of inheritance was found to be semidominant.
|
17573887 |
2007 |
|
Ichthyosis Vulgaris
|
|
0.740 |
CausalMutation
|
CLINVAR |
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
|
16444271 |
2006 |
|
Ichthyosis Vulgaris
|
|
0.740 |
CausalMutation
|
CLINVAR |
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
|
16550169 |
2006 |
|
Ichthyosis Vulgaris
|
|
0.740 |
GeneticVariation
|
BEFREE |
Recently, 2 loss-of-function mutations (R501X and 2282derl4) in the filaggrin gene (FLG) that cause ichthyosis vulgaris, one of the most common inherited skin disorders of keratinization, have been reported to be strong predisposing factors for AD.
|
16815158 |
2006 |
|
Ichthyosis Vulgaris
|
|
0.740 |
CausalMutation
|
CLINVAR |
Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
|
17030239 |
2006 |
|
Ichthyosis Vulgaris
|
|
0.740 |
CausalMutation
|
CLINVAR |
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.
|
16815158 |
2006 |
|
Ichthyosis Vulgaris
|
|
0.740 |
GeneticVariation
|
BEFREE |
We have identified homozygous or compound heterozygous mutations R501X and 2282del4 in the gene encoding filaggrin (FLG) as the cause of moderate or severe ichthyosis vulgaris in 15 kindreds.
|
16444271 |
2006 |
|
Ichthyosis Vulgaris
|
|
0.740 |
GeneticVariation
|
CLINVAR |
|
|
|