2023
Advancing diagnosis and management of liver disease in adults through exome sequencing
Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.Peer-Reviewed Original ResearchConceptsLiver diseaseWhole-exome sequencingUnknown etiologyTertiary referral academic medical centerReferral academic medical centerExome sequencingLiver disease patientsManagement of adultsAcademic health care centerComprehensive clinical evaluationHealth care centersAcademic medical centerGenetic variantsRare genetic variantsAdult patientsLiver centersHepatic steatosisDisease patientsClinical evaluationCare centerFamily historyMedical CenterClinical valueAdult medicinePatients
2019
A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young Man
Madhavan P, Van Do TH, Bale A, Majumdar S. A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young Man. AACE Clinical Case Reports 2019, 5: e226-e229. PMID: 31967040, PMCID: PMC6873832, DOI: 10.4158/accr-2018-0236.Peer-Reviewed Case Reports and Technical NotesFamilial hypocalciuric hypercalcemiaCalcium-sensing receptorHypocalciuric hypercalcemiaParathyroid growthLow urinary calcium excretionLong-term clinical followEvaluation of hypercalcemiaEvidence of adenomaElevated serum calciumUrinary calcium excretionMultiple endocrine neoplasiaAltered set pointCalcium excretionPrimary hyperparathyroidismClinical followSerum calciumClinical findingsSignificant hypercalcemiaSurgical interventionTomography scanEndocrine neoplasiaFamily historyHypercalcemiaBipolar disorderCalcium homeostasis
2006
Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer
Pejovic T, Yates JE, Liu HY, Hays LE, Akkari Y, Torimaru Y, Keeble W, Rathbun RK, Rodgers WH, Bale AE, Ameziane N, Zwaan CM, Errami A, Thuillier P, Cappuccini F, Olson SB, Cain JM, Bagby GC. Cytogenetic Instability in Ovarian Epithelial Cells from Women at Risk of Ovarian Cancer. Cancer Research 2006, 66: 9017-9025. PMID: 16982743, DOI: 10.1158/0008-5472.can-06-0222.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedChromosome BreakageDNA MethylationDNA, ComplementaryEpithelial CellsFanconi Anemia Complementation Group D2 ProteinFemaleGene SilencingGenes, BRCA1Genetic Predisposition to DiseaseGenomic InstabilityGerm-Line MutationHumansMiddle AgedMitomycinOvarian NeoplasmsOvaryPromoter Regions, GeneticReverse Transcriptase Polymerase Chain ReactionRNA, MessengerConceptsOvarian cancerMitomycin CBRCA2 mutationsOnset of carcinomaEpithelial cellsHigh-risk womenOvarian cancer patientsBRCA1 germ-line mutationsOvarian surface epithelial cellsSensitive screening strategyFamilial ovarian cancerOvarian epithelial cellsSurface epithelial cellsGerm-line mutationsCancer patientsFrequent findingNormal ovariesFamily historyHigh riskControl groupPatientsCancerCytogenetic instabilityPrimary culturesScreening strategy
2004
Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients
Choi DH, Lee MH, Bale AE, Carter D, Haffty BG. Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients. Journal Of Clinical Oncology 2004, 22: 1638-1645. PMID: 15117986, DOI: 10.1200/jco.2004.04.179.Peer-Reviewed Original ResearchConceptsBreast cancerOvarian cancerBRCA2 mutationsFamily historyYounger ageKorean breast cancer patientsKorean womenIncidence of BRCA1Breast cancer patientsAge 40 yearsPrevalence of BRCA1Paraffin-embedded tissue blocksKorean patientsPeripheral bloodCancer patientsEtiologic factorsP53 overexpressionBreast carcinomaImmunohistochemical stainingPatientsKorean populationBRCA genesCancerUnknown significanceCyclin D1
2001
Direct Molecular Diagnosis of Multiple Endocrine Neoplasia Type 1
Petty E, Glynn M, Bale A. Direct Molecular Diagnosis of Multiple Endocrine Neoplasia Type 1. Methods In Molecular Medicine 2001, 49: 227-242. PMID: 21370144, DOI: 10.1385/1-59259-081-0:227.Peer-Reviewed Original ResearchMultiple endocrine neoplasia type 1Family historyType 1Peptic ulcer diseasePositive family historyNegative family historyAge-related penetranceAutosomal dominant syndromeNew germline mutationsPancreatic islet cellsUlcer diseaseEndocrine tumorsAforementioned tumorsAnterior pituitaryClassic featuresIslet cellsPenetrant disordersDominant syndromeGermline mutationsTumorsDisordersAdult lifeAffected individualsDirect molecular diagnosisMolecular diagnosis
1993
Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9
Petty E, Bolognia J, Bale A, Yang‐Feng T. Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9. American Journal Of Medical Genetics 1993, 45: 77-80. PMID: 8418665, DOI: 10.1002/ajmg.1320450119.Peer-Reviewed Case Reports and Technical NotesConceptsHereditary cutaneous malignant melanomaCutaneous malignant melanomaMalignant melanomaMultiple primary melanomasMelanoma tumor tissuesUnbalanced reciprocal translocationPrimary melanomaFamily historyTumor tissueMelanomaCell linesLarge kindredChromosome 9pKindredsReciprocal translocationMolecular studiesShort armNumerous studiesChromosome 5