2006
Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis.
Busygina V, Bale AE. Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis. The Yale Journal Of Biology And Medicine 2006, 79: 105-14. PMID: 17940620, PMCID: PMC1994794.Peer-Reviewed Original Research
2005
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory
Klein RD, Salih S, Bessoni J, Bale AE. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 131-138. PMID: 15714081, DOI: 10.1097/01.gim.0000153663.62300.f8.Peer-Reviewed Original ResearchConceptsPituitary tumorsSporadic patientsIslet neoplasiaMEN1 mutationsMultiple endocrine neoplasia type 1Islet cell neoplasiaMEN1 genePancreatic islet tumorsFrameshift deletion mutationClinical featuresSomatic mosaicismPancreatic neoplasmsCell neoplasiaHyperparathyroidismBlood samplesPatientsClinical testingIslet tumorsSporadic casesType 1TumorsFamilial casesNeoplasiaSplice site mutationDNA diagnostic laboratories
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
1994
Molecular Mechanisms of Neoplasia in Multiple Endocrine Neoplasia Type 1-Related and Sporadic Tumors of the Pancreatic Islet Cells
Bale A. Molecular Mechanisms of Neoplasia in Multiple Endocrine Neoplasia Type 1-Related and Sporadic Tumors of the Pancreatic Islet Cells. Endocrinology And Metabolism Clinics Of North America 1994, 23: 109-115. PMID: 7913019, DOI: 10.1016/s0889-8529(18)30119-1.Peer-Reviewed Original ResearchConceptsPancreatic islet tumorsIslet tumorsMEN 1Islet cellsMultiple endocrine neoplasia type 1Pancreatic islet cellsMEN 1 geneGeneral populationSporadic tumorsType 1Activation of oncogenesTumorsGorlin syndrome geneAdenomatous polyposis coliLimited dataNeoplastic transformationPolyposis coliTumor suppressorGenetic eventsMolecular mechanismsSyndrome geneEarly stagesCellsPatientsNeoplasia
1992
PRAD1 (cyclin D1): a parathyroid neoplasia gene on 11q13.
Arnold A, Motokura T, Bloom T, Rosenberg C, Bale A, Kronenberg H, Ruderman J, Brown M, Kim H. PRAD1 (cyclin D1): a parathyroid neoplasia gene on 11q13. Henry Ford Hospital Medical Journal 1992, 40: 177-80. PMID: 1483873.Peer-Reviewed Original ResearchConceptsPossible primaryMultiple endocrine neoplasia type 1Sporadic parathyroid adenomasParathyroid diseaseParathyroid adenomaMEN-1Pathogenetic featuresType 1Familial formsCandidate oncogeneBcl-2PTH locusC-MycField gel electrophoresisPRAD1Cell cycleOncogeneImmunoglobulin genesHyperparathyroidismCyclin proteinsAdenomasNeoplasiaPathogenesisTumorsDisease
1991
Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1.
Bale A, Norton J, Wong E, Fryburg J, Maton P, Oldfield E, Streeten E, Aurbach G, Brandi M, Friedman E. Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1. Cancer Research 1991, 51: 1154-7. PMID: 1671755.Peer-Reviewed Original ResearchConceptsFamilial multiple endocrine neoplasia type 1Multiple endocrine neoplasia type 1Anterior pituitary tumorsPancreatic islet tumorsIslet tumorsPituitary tumorsAllelic lossType 1Autosomal dominant disorderMalignant gastrinomaBronchial carcinoidParathyroid glandsParathyroid tumorsAnterior pituitaryLoss of heterozygosityTumorsPancreatic isletsSporadic tumorsDominant disorderMEN1 genePatientsRestriction fragment length polymorphismFragment length polymorphismHomozygous inactivationInformative restriction fragment length polymorphisms
1989
Clonality of Parathyroid Tumors in Familial Multiple Endocrine Neoplasia Type 1
Friedman E, Sakaguchi K, Bale A, Falchetti A, Streeten E, Zimering M, Weinstein L, McBride W, Nakamura Y, Brandi M, Norton J, Aurbach G, Spiegel A, Marx S. Clonality of Parathyroid Tumors in Familial Multiple Endocrine Neoplasia Type 1. New England Journal Of Medicine 1989, 321: 213-218. PMID: 2568586, DOI: 10.1056/nejm198907273210402.Peer-Reviewed Original ResearchLinkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11
Bale S, Bale A, Stewart K, Dachowski L, McBride O, Glaser T, Green J, Mulvihill J, Brandi M, Sakaguchi K, Aurbach G, Marx S. Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11. Genomics 1989, 4: 320-322. PMID: 2565877, DOI: 10.1016/0888-7543(89)90336-4.Peer-Reviewed Original ResearchConceptsChromosome 11Skeletal muscle glycogen phosphorylasePolymorphic DNA (RAPD) markersMuscle glycogen phosphorylaseSingle large pedigreeDNA markersGene locusFibroblast growth factorBasic fibroblast growth factorMultiple endocrine neoplasia type 1Glycogen phosphorylaseLarge pedigreeGenesLociRecent findingsMultipoint analysisGrowth factorMEN1 geneMarkersINT2PedigreeMEN1 patientsPhosphorylaseType 1
1987
Linkage analysis in spinopontine atrophy: Correlation or HLA linkage with phenotypic findings in hereditary ataxia
Bale A, Bale S, Schlesinger S, McFarland H, Opitz J, Reynolds J. Linkage analysis in spinopontine atrophy: Correlation or HLA linkage with phenotypic findings in hereditary ataxia. American Journal Of Medical Genetics 1987, 27: 595-602. PMID: 3477098, DOI: 10.1002/ajmg.1320270312.Peer-Reviewed Original ResearchConceptsHLA linkageHereditary ataxiasLoss of proprioceptionNervous system signsExtraocular movement abnormalitiesNeuropathologic changesNeuropathological descriptionOlivopontocerebellar atrophyMovement abnormalitiesAffected family membersPathologic changesSystem signsLower limbsType 1AtrophyHLAPhenotypic findingsNegative resultsAtaxiaFamily membersPresent familyDysphagiaDysarthriaReflexAbnormalities