相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
Elina S. Chermnykh et al.
CELLS (2020)
Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan
Michiko Kurosawa et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2019)
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations
Martha Montalvan-Suarez et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome
Cheng Ni et al.
EUROPEAN JOURNAL OF DERMATOLOGY (2019)
Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup
Chiaki Murase et al.
JOURNAL OF DERMATOLOGICAL SCIENCE (2018)
An atypical presentation of herpes simplex virus infection in Harlequin ichthyosis
Shelley Yang et al.
PEDIATRIC DERMATOLOGY (2018)
Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
Anders Vahlquist et al.
AMERICAN JOURNAL OF CLINICAL DERMATOLOGY (2018)
Harlequin ichthyosis: A rare case
Belide Shruthi et al.
TURKISH JOURNAL OF OBSTETRICS AND GYNECOLOGY (2017)
Personality and its links to quality of life: Mediating effects of emotion regulation and self-efficacy beliefs
Cornelia Pocnet et al.
MOTIVATION AND EMOTION (2017)
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy
J. Mashiah et al.
CLINICAL AND EXPERIMENTAL DERMATOLOGY (2016)
Shwachman-Diamond Syndrome Presenting with Early Ichthyosis, Associated Dermal and Epidermal Intracellular Lipid Droplets, Hypoglycemia, and Later Distinctive Clinical SDS Phenotype
Emmanuel Scalais et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Inherited ichthyosis: Non-syndromic forms
Takuya Takeichi et al.
JOURNAL OF DERMATOLOGY (2016)
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis
Lei Zhang et al.
PLOS ONE (2016)
Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan
Akitaka Shibata et al.
PEDIATRICS INTERNATIONAL (2015)
Cognitive and Neuropsychological Correlates of the Big Five: A Review in the Field of Neuroscience of Personality
Jorge Emiro Restrepo
PENSANDO PSICOLOGIA (2015)
The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation
Masashi Akiyama
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2014)
Inherited ichthyoses/generalized Mendelian disorders of cornification
Matthias Schmuth et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12
Tomer Goldsmith et al.
EXPERIMENTAL DERMATOLOGY (2013)
Family burden in inherited ichthyosis: creation of a specific questionnaire
Helene Dufresne et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Motivation and Personality: A Neuropsychological Perspective
Philip J Corr et al.
SOCIAL AND PERSONALITY PSYCHOLOGY COMPASS (2013)
Autosomal Recessive Congenital Ichthyosis
L. Rodriguez-Pazos et al.
ACTAS DERMO-SIFILIOGRAFICAS (2013)
Harlequin Ichthyosis A Review of Clinical and Molecular Findings in 45 Cases
Shefali Rajpopat et al.
ARCHIVES OF DERMATOLOGY (2011)
X-Linked Ichthyosis along with Recessive Dystrophic Epidermolysis Bullosa in the Same Patient
A. Hernandez-Martin et al.
DERMATOLOGY (2010)
ABCA12 Mutations and Autosomal Recessive Congenital Ichthyosis: A Review of Genotype/Phenotype Correlations and of Pathogenetic Concepts
Masashi Akiyama
HUMAN MUTATION (2010)
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009
Vinzenz Oji et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2010)
Highly Complex Peptide Aggregates of the S100 Fused-Type Protein Hornerin Are Present in Human Skin
Zhihong Wu et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2009)
分享论文
