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
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
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