What is the ichthyosis in the so-called ichthyosis-cheek-eyebrow (ICE) syndrome?

Personal, financial and time burden in inherited ichthyoses: A survey of 144 patients in a university-based setting.

Journal of the European Academy of Dermatology and Venereology : JEADV·2024

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

Journal of the European Academy of Dermatology and Venereology : JEADV·2022

Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.

Journal of the European Academy of Dermatology and Venereology : JEADV·2021

Development of a pathogenesis-based therapy for peeling skin syndrome type 1.

The British journal of dermatology·2020

LEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome.

The British journal of dermatology·2019

Management of congenital ichthyoses: European guidelines of care, part one.

The British journal of dermatology·2018

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

In-Hospital Cardiac Arrest in Impella-Supported Cardiogenic Shock: Insights From the J-PVAD Registry.

Resuscitation·2026

Large B-cell lymphoma with IRF4 rearrangement: clinicopathologic heterogeneity across the age spectrum.

Journal of hematopathology·2026

Immunometabolic crosstalk in gallstone disease: driving roles of bacterial infection, NETs and MMP activation.

Molecular biology reports·2026

Accounting for serotypic heterogeneity improves the interpretation of pneumococcal vaccine response using serotype-specific ELISA IgG concentrations.

Microbiology spectrum·2026

Related Experiment Videos

What is the ichthyosis in the so-called ichthyosis-cheek-eyebrow (ICE) syndrome?

Related Concept Videos

Personal, financial and time burden in inherited ichthyoses: A survey of 144 patients in a university-based setting.

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.

Development of a pathogenesis-based therapy for peeling skin syndrome type 1.

LEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome.

Management of congenital ichthyoses: European guidelines of care, part one.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

In-Hospital Cardiac Arrest in Impella-Supported Cardiogenic Shock: Insights From the J-PVAD Registry.

Large B-cell lymphoma with IRF4 rearrangement: clinicopathologic heterogeneity across the age spectrum.

Immunometabolic crosstalk in gallstone disease: driving roles of bacterial infection, NETs and MMP activation.

Accounting for serotypic heterogeneity improves the interpretation of pneumococcal vaccine response using serotype-specific ELISA IgG concentrations.

Related Experiment Videos

What is the ichthyosis in the so-called ichthyosis-cheek-eyebrow (ICE) syndrome?

Related Concept Videos

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