Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017

Increased Prevalence of Filaggrin Deficiency in 51 Patients with Recessive X-Linked Ichthyosis Presenting for Dermatological Examination

(2018) Kira Süßmuth et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates

(2017) Fatma Bastaki et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

(2017) Robert Gruber et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

(2016) M Pigg et al.   ACTA DERMATO-VENEREOLOGICA

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation inCSTA

(2015) V. Moosbrugger-Martinz et al.   BRITISH JOURNAL OF DERMATOLOGY

Keratins and skin disease

(2015) Maria Knöbel et al.   CELL AND TISSUE RESEARCH

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

(2015) Maeve A. McAleer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti

(2015) Keith A. Choate et al.   JOURNAL OF CLINICAL INVESTIGATION

Nonsyndromic types of ichthyoses - an update

(2013) Heiko Traupe et al.   JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

(2013) Katja-Martina Eckl et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

(2013) Liat Samuelov et al.   NATURE GENETICS

Inherited ichthyoses/generalized Mendelian disorders of cornification

(2012) Matthias Schmuth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

(2012) Anaïs Grall et al.   NATURE GENETICS

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

(2011) Shirli Israeli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion

(2011) Diana C. Blaydon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function

(2011) Robert Gruber et al.   AMERICAN JOURNAL OF PATHOLOGY

Pleomorphic Ichthyosis: Proposed Name for a Heterogeneous Group of Congenital Ichthyoses with Phenotypic Shifting and Mild Residual Scaling

(2010) A Vahlquist   ACTA DERMATO-VENEREOLOGICA

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis

(2010) M.J. Arin et al.   BRITISH JOURNAL OF DERMATOLOGY

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

(2010) Vinzenz Oji et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome

(2009) Joakim Klar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ichthyosis vulgaris: novelFLGmutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup

(2009) V. Oji et al.   BRITISH JOURNAL OF DERMATOLOGY

Molecular Analysis of 250 Patients with Autosomal Recessive Congenital Ichthyosis: Evidence for Mutation Hotspots in ALOXE3 and Allelic Heterogeneity in ALOX12B

(2009) Katja-Martina Eckl et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY