2011
Hypercalcaemic and hypocalcaemic syndromes in children
Ardeshirpour L, Carpenter T. Hypercalcaemic and hypocalcaemic syndromes in children. 2011, 687-700. DOI: 10.1093/med/9780199235292.003.0444.Peer-Reviewed Original ResearchCalcium-regulating systemsSeverity of diseaseCalcium homeostasisMineral homeostasisAge groupsCompensatory mechanismsRelevant physiologySkeletal growthEarly childhoodHeritable disorderChildhoodHomoeostatic systemProgressive stagesDisordersChildhood yearsHomeostasisMineral requirementsNumerous factorsHypercalcaemiaHypocalcaemiaSyndromePhysiologyDiseaseInsult
2001
Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets
Holm I, Nelson A, Robinson B, Mason R, Marsh D, Cowell C, Carpenter T. Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets. The Journal Of Clinical Endocrinology & Metabolism 2001, 86: 3889-3899. PMID: 11502829, DOI: 10.1210/jcem.86.8.7761.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAmino Acid SubstitutionBone DiseasesChildDNA Mutational AnalysisExonsFamilyFemaleGenotypeHumansHypophosphatemia, FamilialMaleMiddle AgedMutationMutation, MissenseNuclear FamilyPhenotypePHEX Phosphate Regulating Neutral EndopeptidaseProteinsSequence DeletionTooth DiseasesConceptsHypophosphatemic ricketsRickets patientsHypophosphatemic rickets patientsSevere skeletal diseasePHEX mutationsSeverity of diseaseFamily membersGenotype-phenotype correlationPrognostic valueFamily historyPatientsPostpubertal malesEarly identificationSkeletal diseaseGenetic testingRicketsTruncating mutationsDental phenotypeAffected individualsMild phenotypePHEX geneDiseaseMissense mutationsDifferent mutationsSeverity