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Journal of the American Academy of Dermatology, ISSN 0190-9622, 2010, Volume 63, Issue 4, pp. 607 - 641
Background Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically... 
Dermatology | mendelian disorders of cornification | genetics | histology | superficial epidermolytic ichthyosis | keratinopathic ichthyosis | epidermolytic ichthyosis | ultrastructure | autosomal recessive congenital ichthyosis | SJOGREN-LARSSON-SYNDROME | EPIDERMAL PERMEABILITY BARRIER | HEALING COLLODION BABY | CHANARIN-DORFMAN-SYNDROME | PEELING-SKIN-SYNDROME | OF-FUNCTION MUTATIONS | EPIDERMOLYTIC HYPERKERATOSIS | DERMATOLOGY | LIPID STORAGE DISEASE | BATHING-SUIT ICHTHYOSIS | RECESSIVE CONGENITAL ICHTHYOSIS | Severity of Illness Index | Congresses as Topic | Genetic Predisposition to Disease | Prognosis | Practice Guidelines as Topic - standards | Humans | Gene Expression Regulation | Terminology as Topic | Infant | Male | Dermatologic Agents - therapeutic use | Ichthyosiform Erythroderma, Congenital - classification | Young Adult | Ichthyosis - classification | Adolescent | Adult | Female | France | Child | Infant, Newborn | Ichthyosiform Erythroderma, Congenital - drug therapy | Ichthyosiform Erythroderma, Congenital - genetics | Genetics | Genetic disorders | Developmental biology | Hospices (Terminal care) | Ichthyosis | autosomal recessive congenital ichthyosis; epidermolytic ichthyosis; genetics; histology; keratinopathic ichthyosis; mendelian disorders of cornification; superficial epidermolytic ichthyosis; ultrastructure | Medical and Health Sciences | Dermatology and Venereal Diseases | Medicin och hälsovetenskap | Dermatologi och venereologi | Klinisk medicin | MEDICINE | Dermatology and venerology,clinical genetics, internal medicine | Clinical Medicine | MEDICIN | Dermatologi och venerologi | Dermatologi och venerologi, klinisk genetik, invärtesmedicin | Dermatology and venerology
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2014, Volume 72, Issue 1, pp. 168 - 174
Mucous membrane pemphigoid encompasses a group of autoimmune bullous diseases with a similar phenotype characterized by subepithelial blisters, erosions, and... 
Dermatology | consensus | severity score | mucous membrane pemphigoid | outcome measures | definitions | DISEASE | DERMATOLOGY | Pemphigoid, Benign Mucous Membrane - diagnosis | Pemphigoid, Benign Mucous Membrane - therapy | Treatment Outcome | Humans | Records as Topic | Practice Guidelines as Topic
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1268 - 1276
Background Severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein... 
Allergy and Immunology | desmoplakin | skin barrier | eosinophilic esophagitis | atopic dermatitis | desmosome | atopic sensitization | Atopy | SUBSTITUTION | HAIR | VARIANTS | FILAGGRIN | BARRIER | IMMUNOLOGY | DESMOSOMES | PALMOPLANTAR KERATODERMA | ALLERGY | SERINE-PROTEASE INHIBITOR | SKIN | DIFFERENTIATION | Dermatitis - genetics | Humans | Child, Preschool | Infant | Male | Protein Structure, Tertiary - genetics | Wasting Syndrome - genetics | Disease Progression | Mutation, Missense - genetics | Wasting Syndrome - diagnosis | Desmoglein 1 - genetics | Desmoplakins - genetics | DNA Mutational Analysis | Pedigree | Hypersensitivity - diagnosis | Hypersensitivity - genetics | Child | Infant, Newborn | Skin - pathology | Dermatitis - diagnosis | Allergy | Medical colleges | Molecular genetics | Genetic aspects | Skin | Inflammation | Dermatitis | Allergic reaction | Food allergies | Immunoglobulins | Disease | Pathogenesis | Metabolism | Patients | Proteins | Genotype & phenotype | Ostomy | Antibiotics | Biopsy | Sepsis | Mutation | Endoscopy | Age | DSG1, Desmoglein 1 gene | AD, Atopic dermatitis | PPK, Palmoplantar keratoderma | aCGH, Array comparative genome hybridization | SAM, Severe dermatitis, multiple allergies, and metabolic wasting | Atopic Dermatitis and Skin Disease | SNP, Single nucleotide polymorphism | SPINK5, Serine protease inhibitor Kazal-type 5 gene | DSP, Desmoplakin gene | WES, Whole-exome sequencing
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 132, Issue 5, pp. 1130 - 1131
  Unexpectedly, the Tmem79 mutation, rather than the deletion in Flg, was found to be associated with the development of dermatitis in mice. [...]exogenous... 
Allergy and Immunology | eczema | skin | Atopic dermatitis | ALLERGY | FILAGGRIN | MUTATION | STRATUM-CORNEUM | SECRETION | IMMUNOLOGY | Homozygote | Dermatitis, Atopic - genetics | Eczema - genetics | Genetic Predisposition to Disease | Animals | Membrane Proteins - genetics | Humans | Male | Codon, Nonsense | Studies | Genotype & phenotype | Pathogenesis | Skin diseases | Skin | Mutation | Immune system | Defects
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2009, Volume 64, Issue 5, pp. 974 - 980
Journal Article
Clinics in Dermatology, ISSN 0738-081X, 2011, Volume 29, Issue 5, pp. 498 - 503
Journal Article
Dermatologic Clinics, ISSN 0733-8635, 04/2010, Volume 28, Issue 2, pp. 429 - 430
The Israeli population is characterized by unique demographic features including high genetic homogeneity within many closed communities. As a consequence the... 
Blisters | Keratin | Epidermis | Mutation | Epidermolysis bullosa | Intermediate filaments | DERMATOLOGY | Epidermolysis Bullosa - epidemiology | Epidermolysis Bullosa - genetics | Israel - epidemiology | Humans | Epidermolysis Bullosa - diagnosis | Genetic Testing - organization & administration
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2007, Volume 57, Issue 3, pp. 463 - 466
Journal Article