2006
Phenotype variations in Gaucher disease
Mistry P, Germain DP. Phenotype variations in Gaucher disease. La Revue De Médecine Interne 2006, 27: s3-s6. PMID: 16644399, DOI: 10.1016/s0248-8663(06)80002-0.Peer-Reviewed Original ResearchConceptsGaucher diseaseClinical manifestationsMajority of patientsRate of progressionGaucher phenotypeHigh inter-individual variabilityGenotype-phenotype correlationDevastating complicationInter-individual variabilityBlood countDisease compartmentsNatural historyDiseaseGlucocerebrosidase activityN370S mutationGenetic modifiersMolecular diagnosisDiagnosisSeverityManifestationsPhenotype variations in Gaucher disease
Germain D, Mistry P. Phenotype variations in Gaucher disease. La Revue De Médecine Interne 2006, 27: s7-s10. DOI: 10.1016/s0248-8663(06)80003-2.Peer-Reviewed Original ResearchGaucher diseaseClinical manifestationsMajority of patientsRate of progressionGaucher phenotypeHigh inter-individual variabilityDevastating complicationInter-individual variabilityBlood countDisease compartmentsNatural historyDiseaseGlucocerebrosidase activityN370S mutationGenetic modifiersMolecular diagnosis
2001
Molecular Diagnosis of Wilson Disease
Butler P, McIntyre N, Mistry P. Molecular Diagnosis of Wilson Disease. Molecular Genetics And Metabolism 2001, 72: 223-230. PMID: 11243728, DOI: 10.1006/mgme.2000.3143.Peer-Reviewed Original ResearchConceptsDisease allelesMolecular diagnosisGenetic diagnosisATP7B geneExtreme diversityGenesConformation polymorphism analysisMutationsVariable disease manifestationsDNA analysisWD phenotypeBiochemical criteriaPolymorphism analysisNovel mutationsAllelesCommon mutationsWilson's diseaseWild-type statusDiversityPhenotypeSimilar ethnicityHeterozygote carriersH1069QRegionFamily