Inherited ichthyosis: Non-syndromic forms

Burden of Inherited Ichthyosis: A French National Survey

(2015) I Dreyfus et al.   ACTA DERMATO-VENEREOLOGICA

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

(2015) T. Takeichi et al.   BRITISH JOURNAL OF DERMATOLOGY

Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10

(2015) A. Abdul-Wahab et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis

(2015) Fulya Taylan 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

Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia

(2015) Sanae Numata et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis

(2015) Kazumitsu Sugiura et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis

(2015) Takuya Takeichi et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray

(2015) Jennifer L. Hand et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Cutaneous mosaicism, in KRT1 pI479T patient, caused by the somatic loss of the wild-type allele, leads to the increase in local severity of the disease

(2015) R. Palombo et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10

(2015) Iris Spoerri et al.   JAMA Dermatology

Hypohidrosis Plays a Crucial Role in the Vicious Circle of Bathing Suit Ichthyosis: A Case with Summer Exacerbation

(2014) K Washio et al.   ACTA DERMATO-VENEREOLOGICA

Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations

(2014) M. Kono et al.   ALLERGY

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

(2014) T. Takeichi et al.   BRITISH JOURNAL OF DERMATOLOGY

Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis

(2014) Denny L. Cottle et al.   HUMAN MOLECULAR GENETICS

Bathing suit ichthyosis caused by aTGM1mutation in a Tunisian child

(2014) Rym Benmously-Mlika et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Successful topical adapalene treatment for the facial lesions of an adolescent case of epidermolytic ichthyosis

(2014) Mariko Ogawa et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

High survival rate of harlequin ichthyosis in Japan

(2014) Akitaka Shibata et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis

(2013) Peter M. Elias et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

(2013) Takuya Takeichi et al.   EXPERIMENTAL DERMATOLOGY

The multifunctional role of filaggrin in allergic skin disease

(2013) Maeve A. McAleer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean

(2013) Kazumitsu Sugiura et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

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

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

(2013) Franz P. W. Radner et al.   PLoS Genetics

A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

(2013) Jeydith A. Gutierrez et al.   Molecular Genetics & Genomic Medicine

Reduced Expression of Epidermal Growth Factor Receptor, E-Cadherin, and Occludin in the Skin of Flaky Tail Mice Is Due to Filaggrin and Loricrin Deficiencies

(2012) Kozo Nakai et al.   AMERICAN JOURNAL OF PATHOLOGY

A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in theKRT1gene

(2012) D.J. Fonseca et al.   BRITISH JOURNAL OF DERMATOLOGY

Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis

(2012) Takuya Takeichi et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Interaction of the Profilaggrin N-Terminal Domain with Loricrin in Human Cultured Keratinocytes and Epidermis

(2012) Kozo Yoneda et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

siRNA Silencing of Proteasome Maturation Protein (POMP) Activates the Unfolded Protein Response and Constitutes a Model for KLICK Genodermatosis

(2012) Johanna Dahlqvist et al.   PLoS One

Ichthyosis Hystrix, Curth-Macklin Type: A New Sporadic Case With a Novel Mutation of Keratin 1

(2011) Yoshiaki Kubo   ARCHIVES OF DERMATOLOGY

Bathing suit ichthyosis with summer exacerbation: a temperature-sensitive case

(2011) M. Yamamoto et al.   BRITISH JOURNAL OF DERMATOLOGY

Erythrokeratoderma variabilis caused by a recessive mutation in GJB3

(2011) D. Fuchs-Telem et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis

(2010) Johanna Dahlqvist et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

(2010) Vinzenz Oji et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

(2010) C. Covaciu 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

Erythrokeratoderma Variabilis Responding to Low-Dose Isotretinoin

(2010) NIDHI SINGH et al.   PEDIATRIC DERMATOLOGY

Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10

(2010) K. A. Choate et al.   SCIENCE

Acral self-healing collodion baby: report of a new clinical phenotype caused by a novelTGM1mutation

(2009) J. Mazereeuw-Hautier et al.   BRITISH JOURNAL OF DERMATOLOGY

Transglutaminase-1 and Bathing Suit Ichthyosis: Molecular Analysis of Gene/Environment Interactions

(2009) Karin Aufenvenne et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Recessive Epidermolytic Hyperkeratosis Caused by a Previously Unreported Termination Codon Mutation in the Keratin 10 Gene

(2009) Patrick Terheyden et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

(2009) Anders Vahlquist et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation

(2008) Akiko Tsubota et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis

(2008) Toshifumi Nomura et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY