Associated Papers
Phenotype-genotype correlation in a cohort of 15 patients with hereditary ichthyosis.
Ma YJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Symmetrical acral keratoderma associated with new variants in the filaggrin gene.
Luo W et al.
European Journal of Dermatology : Ejd, 2024
Mutational landscape of inflammatory breast cancer.
Bertucci F et al.
Journal of Translational Medicine, 2024
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients.
Ho M et al.
Human Genomics, 2024
In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.
Paul AA et al.
Frontiers in Molecular Biosciences, 2023
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.
Dai S et al.
Molecular Genetics & Genomic Medicine, 2022
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.
Li ZD et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Factors associated with persistence of early-onset atopic dermatitis up to the age of 12 years: a prospective cohort study in China.
Zhang Z et al.
European Journal of Dermatology : Ejd, 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants.
Wong XFCC et al.
The Journal of Allergy and Clinical Immunology, 2018
Filaggrin Mutation in Korean Patients with Atopic Dermatitis.
On HR et al.
Yonsei Medical Journal, 2017
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.
Kim M et al.
Plos One, 2017
FLG mutations in the East Asian atopic dermatitis patients: genetic and clinical implication.
Li K et al.
Experimental Dermatology, 2016
Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations.
Park J et al.
The Journal of Dermatology, 2015
Filaggrin mutations in a Western siberian population and their association with atopic dermatitis in children.
Komova EG et al.
Genetic Testing and Molecular Biomarkers, 2014
Evidence That Loss-of-Function Filaggrin Gene Mutations Evolved in Northern Europeans to Favor Intracutaneous Vitamin D3 Production.
Thyssen JP et al.
Evolutionary Biology, 2014
Ichthyosis vulgaris: the filaggrin mutation disease.
Thyssen JP et al.
The British Journal of Dermatology, 2013
Mutations analysis in filaggrin gene in northern China patients with atopic dermatitis.
Li M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013
Filaggrin mutations associated with skin and allergic diseases.
Irvine AD et al.
The New England Journal of Medicine, 2011
Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations.
Chen H et al.
The British Journal of Dermatology, 2011
Filaggrin null mutations are not a protective factor for acne vulgaris.
Common JE et al.
The Journal of Investigative Dermatology, 2011
[Eczema herpeticum in a patient with atopic dermatitis, carrying r501x and 2282del4 filaggrin null mutations].
Valdés-Rodríguez R et al.
Gaceta Medica De Mexico, 0