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 ResearchConceptsMultiple endocrine neoplasia type 1Cancer predisposition syndromePredisposition syndromeType 1SyndromeCarcinogenesis
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