2010
MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
Borràs E, Pineda M, Blanco I, Jewett E, Wang F, Teulé À, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso Á, Lanas Á, González S, Moreno V, Gruber S, Rosenberg N, Mukherjee B, Lázaro C, Capellá G. MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families. Cancer Research 2010, 70: 7379-7391. PMID: 20858721, DOI: 10.1158/0008-5472.can-10-0570.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAge FactorsAgedBase SequenceColorectal Neoplasms, Hereditary NonpolyposisFamily HealthFemaleGenetic Predisposition to DiseaseGerm-Line MutationHaplotypesHCT116 CellsHumansMaleMiddle AgedMolecular Sequence DataMutL Protein Homolog 1Nuclear ProteinsPenetranceSpainYoung AdultConceptsLynch syndrome familiesMLH1 c.Molecular diagnosis of Lynch syndromeSyndrome familiesDiagnosis of Lynch syndromeFounder originModerate penetranceModified segregation analysisDNA repair gene MLH1Lynch syndromeMLH1 mutationsGenes MLH1Founder effectMRNA processingLoss of expressionFounder mutationEstimated penetranceFamily historySegregation analysisHaplotype analysisIdentified mutationsCarrier familyPathogenic mutationsGenetic counselingMLH1 protein
2008
Variability in prescription drug expenditures explained by adjusted clinical groups (ACG) case-mix: A cross-sectional study of patient electronic records in primary care
Aguado A, Guinó E, Mukherjee B, Sicras A, Serrat J, Acedo M, Ferro J, Moreno V. Variability in prescription drug expenditures explained by adjusted clinical groups (ACG) case-mix: A cross-sectional study of patient electronic records in primary care. BMC Health Services Research 2008, 8: 53. PMID: 18318912, PMCID: PMC2292169, DOI: 10.1186/1472-6963-8-53.Peer-Reviewed Original ResearchConceptsPrescription quality indexPatient electronic recordsCase-mixPhysician-centeredElectronic recordsPharmacy costsPrimary care centersEpisode of careCase-mix adjustmentQuality of prescriptionsCost of prescriptionsCross-sectional studyQuality IndexIncreased prescription costsTwo-part modelDrug expendituresFamily physiciansProfile physiciansLinear mixed modelsPrescription costsProportion of variancePrescription drug expendituresPhysician expendituresLogistic regressionMultilevel structure of data