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Nature Genetics, ISSN 1061-4036, 12/2016, Volume 48, Issue 12, pp. 1450 - 1451
Unspecific and unexplained medical complaints can be frustrating to both patients and clinicians. A cause for these complex symptoms and signs may now have... 
DISORDERS | TRYPTASE | IRRITABLE-BOWEL-SYNDROME | GENETICS & HEREDITY | Genetics | Complaints | Genes | Irritable bowel syndrome | Cell adhesion & migration
Journal Article
Pediatrics, ISSN 0031-4005, 09/2019, Volume 144, Issue 3, p. e20191585
Journal Article
Psychological Science in the Public Interest, ISSN 1529-1006, 1/2012, Volume 13, Issue 1, pp. 3 - 66
Journal Article
The Lancet Infectious Diseases, ISSN 1473-3099, 01/2019, Volume 19, Issue 1, pp. 112 - 112
Journal Article
Mycoses, ISSN 0933-7407, 07/2019, Volume 62, Issue 10, pp. 949 - 953
Outbreaks of tinea capitis (TC) can be a source of medical and economic burden for healthcare systems; Griseofulvin and terbinafine are considered to be... 
Statistical analysis | Tablets | Tinea | Outbreaks | Griseofulvin | Fungal infections | Tinea capitis | Epidemiology | Immigrants | Terbinafine
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 | Index Medicus | Abridged Index Medicus | 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 of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 132, Issue 5, pp. 1130 - 1131
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 04/2013, Volume 123, Issue 4, pp. 1556 - 1570
Genetic disorders of the Ras/MAPK pathway, termed RASopathies, produce numerous abnormalities, including cutaneous keratodermas. The desmosomal cadherin,... 
MEDICINE, RESEARCH & EXPERIMENTAL | KERATINOCYTE DIFFERENTIATION | DESMOSOMAL CADHERIN DESMOGLEIN-1 | NF2 TUMOR-SUPPRESSOR | TYROSINE PHOSPHORYLATION | NOONAN-LIKE SYNDROME | PROTEIN-KINASE | IN-VIVO | TANDEM MASS-SPECTROMETRY | STRIATE PALMOPLANTAR KERATODERMA | MAP KINASE ACTIVATION | Adaptor Proteins, Signal Transducing - chemistry | RNA, Small Interfering - genetics | Humans | Desmocollins - metabolism | Extracellular Signal-Regulated MAP Kinases - antagonists & inhibitors | ras Proteins - metabolism | Male | Intracellular Signaling Peptides and Proteins - metabolism | Extracellular Signal-Regulated MAP Kinases - metabolism | Gene Knockdown Techniques | MAP Kinase Signaling System | Lamins - genetics | Young Adult | Desmoglein 1 - genetics | Desmoglein 1 - metabolism | Keratoderma, Palmoplantar - metabolism | Keratoderma, Palmoplantar - pathology | Lamins - metabolism | Adult | Female | Cell Differentiation | Protein Interaction Domains and Motifs | Epidermis - pathology | Cells, Cultured | Desmoglein 1 - physiology | Protein Transport | Keratinocytes - metabolism | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Protein Binding | Protein Kinase Inhibitors - pharmacology | Enzyme Activation | Primary Cell Culture | Adaptor Proteins, Signal Transducing - metabolism | Keratinocytes - physiology | Genetic disorders | Analysis | Epidermis | Cadherins | Genetic aspects | Cellular signal transduction | Research | Cell differentiation | Index Medicus | Abridged Index Medicus
Journal Article