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513001 to 513100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.
Ancient linkage groups and frozen accidents.
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
The Delta Np63 alpha phosphoprotein binds the p21 and 14-3-3 sigma promoters in vivo and has transcriptional repressor activity that is reduced by Hay-Wells syndrome-derived mutations.
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Specific recognition of linear ubiquitin chains by NEMO is important for NF-kappaB activation.
Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation.
The central (intraosseous) calcifying odontogenic cyst: an analysis of 215 cases.
Neural crest deletion of Dlx3 leads to major dentin defects through down-regulation of Dspp.
Genetic etiology and dental pulp cell deficiency of hypophosphatasia.
Dental structural diseases mapping to human chromosome 4q21.
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21.
Overexpression of transforming growth factor-beta1 in teeth results in detachment of ameloblasts and enamel defects.
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.
Hereditary defects of dentin.
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia.
Rough hypoplastic amelogenesis imperfecta with follicular hyperplasia.
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.
Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population.
Molecular basis of human dentin diseases.
Disorders of human dentin.
A proposed classification for heritable human dentine defects with a description of a new entity.
A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene.
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.
Hereditary dentin defects.
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification.
Enamel defects in primary and permanent teeth of children born prematurely.
An evaluation of the Child Perceptions Questionnaire in the UK.
Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta.
Enamel hypoplasia and dental caries in very-low birthweight children: a case-controlled, longitudinal study.
Characterization of a family with dominant hypophosphatasia.
Enamel hypoplasia of the teeth associated with neonatal tetany: a manifestation of maternal vitamin-D deficiency.
A review of the developmental defects of enamel index (DDE Index). Commission on Oral Health, Research & Epidemiology. Report of an FDI Working Group.
The amelogenin C-terminus is required for enamel development.
The small bovine amelogenin LRAP fails to rescue the amelogenin null phenotype.
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.
Partial rescue of the amelogenin null dental enamel phenotype.
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.
Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.
Dental caries and its relationship to bacterial infection, hypoplasia, diet, and oral hygiene in 6- to 36-month-old children.
Root development in mice lacking functional tissue non-specific alkaline phosphatase gene: inhibition of acellular cementum formation.
The genetic basis of tooth development and dental defects.
ENAM mutations in autosomal-dominant amelogenesis imperfecta.
A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia.
FGF10 acts as a major ligand for FGF receptor 2 IIIb in mouse multi-organ development.
Integrated imaging approach with MEG and DTI to detect mild traumatic brain injury in military and civilian patients.
Mechanisms of blast induced brain injuries, experimental studies in rats.
Casualties of war--military care for the wounded from Iraq and Afghanistan.
Blast exposure in rats with body shielding is characterized primarily by diffuse axonal injury.
Animal models of traumatic brain injury.
Ultrastructural and functional characteristics of blast injury-induced neurotrauma.
Diffusion tensor imaging of mild to moderate blast-related traumatic brain injury and its sequelae.
Traumatic brain injury: an overview of pathobiology with emphasis on military populations.
Traumatic brain injury screening: preliminary findings in a US Army Brigade Combat Team.
Cytogenetic and molecular observations in human and experimental salivary gland tumors.
Alterations in miRNA processing and expression in pleomorphic adenomas of the salivary gland.
Tumours of the minor (oropharyngeal) salivary glands: a demographic study of 336 cases.
Treatment of mixed tumors of the kidney in childhood.
PLAG1, the main translocation target in pleomorphic adenoma of the salivary glands, is a positive regulator of IGF-II.
Immunoglobulin mRNA and protein expression in human oral epithelial tumor cells.
Cytogenetic subtyping of 220 salivary gland pleomorphic adenomas: correlation to occurrence, histological subtype, and in vitro cellular behavior.
Salivary gland tumors in a Brazilian population: a retrospective study of 496 cases.
Carcinomas ex pleomorphic adenoma and malignant mixed tumors. Histomorphologic indexes.
Expression of reciprocal hybrid transcripts of HMGIC and FHIT in a pleomorphic adenoma of the parotid gland.
Expression of glial filament protein (GFP) in nerve sheaths and non-neural cells re-examined using monoclonal antibodies, with special emphasis on the co-expression of GFP and cytokeratins in epithelial cells of human salivary gland and pleomorphic ade...
Unlocking pathology archives for molecular genetic studies: a reliable method to generate probes for chromogenic and fluorescent in situ hybridization.
Myoepithelial carcinoma of the salivary glands: a clinicopathologic study of 25 patients.
Carcinoma ex pleomorphic adenoma: a clinicopathologic review.
Tumors of the intraoral minor salivary glands: a demographic and histologic study of 426 cases.
Malignant mixed tumors of the salivary glands: a review.
Tumors of the major salivary glands.
Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations.
Prevalence of malocclusion and orthodontic treatment need in children and adolescents in Bogota, Colombia. An epidemiological study related to different stages of dental development.
Oral health-related quality of life of children by dental caries and fluorosis experience.
Development of imaging selection criteria and procedures should precede cephalometric assessment with cone-beam computed tomography.
A method of cephalometric evaluation.
Orthodontic treatment and its impact on oral health-related quality of life in Brazilian adolescents.
Impact of oral diseases and disorders on oral health-related quality of life of preschool children.
Disparities in oral health-related quality of life in a population of Canadian children.
A natural history of cleidocranial dysplasia.
Three-dimensional cone beam computerized tomography in orthodontics.
A genetic contribution to dental caries, occlusion, and morphology as demonstrated by twins reared apart.
Assessing the impact of oral health on the life quality of children: implications for research and practice.
Validation of the Child Perceptions Questionnaire (CPQ 11-14).
The development of an index of orthodontic treatment priority.
Cone-beam computed tomography for routine orthodontic treatment planning: a radiation dose evaluation.
A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies.
The reliability of head film measurements. 1. Landmark identification.
Prevalence of malocclusion and orthodontic treatment need in the United States: estimates from the NHANES III survey.
Image analysis and superimposition of 3-dimensional cone-beam computed tomography models.
Validity and reliability of a questionnaire for measuring child oral-health-related quality of life.
Tricho-rhino-phalangeal syndrome with supernumerary teeth.
Three-dimensional computed tomography evaluation of postsurgical condylar displacement after mandibular osteotomy.