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
Mapping the gene for hereditary hyperparathyroidism and prolactinoma (MEN1Burin) to chromosome 11q: evidence for a founder effect in patients from Newfoundland.
Petty E, Green J, Marx S, Taggart R, Farid N, Bale A. Mapping the gene for hereditary hyperparathyroidism and prolactinoma (MEN1Burin) to chromosome 11q: evidence for a founder effect in patients from Newfoundland. American Journal Of Human Genetics 1994, 54: 1060-6. PMID: 7911003, PMCID: PMC1918205.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceCarcinoid TumorChildChromosome MappingChromosomes, Human, Pair 11FemaleGenetic LinkageGenetic MarkersHaplotypesHumansHyperparathyroidismMaleMolecular Sequence DataMultiple Endocrine NeoplasiaNewfoundland and LabradorNorthwestern United StatesParentsPedigreePituitary NeoplasmsProlactinomaSyndrome
1993
Progression of uremic hyperparathyroidism involves allelic loss on chromosome 11.
Falchetti A, Bale A, Amorosi A, Bordi C, Cicchi P, Bandini S, Marx S, Brandi M. Progression of uremic hyperparathyroidism involves allelic loss on chromosome 11. The Journal Of Clinical Endocrinology & Metabolism 1993, 76: 139-144. PMID: 8421078, DOI: 10.1210/jcem.76.1.8421078.Peer-Reviewed Original Research
1990
Genetic Abnormalities in Sporadic Parathyroid Adenomas
Friedman E, Bale A, Marx S, Norton J, Arnold A, Tu T, Aurbach G, Spiegel A. Genetic Abnormalities in Sporadic Parathyroid Adenomas. The Journal Of Clinical Endocrinology & Metabolism 1990, 71: 293-297. PMID: 2199477, DOI: 10.1210/jcem-71-2-293.Peer-Reviewed Original Research