2011
Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas
Jensen AL, Florell SR, Vanderhooft SL, Bale AE. Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas. Pediatric Dermatology 2011, 28: 138-141. PMID: 20738793, DOI: 10.1111/j.1525-1470.2010.01227.x.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
1999
Mutational Analyses of Candidate Genes in Human Squamous Cell Carcinomas
Petroianu A, Boson W, Bale A, Friedman E, De Marco L. Mutational Analyses of Candidate Genes in Human Squamous Cell Carcinomas. The Laryngoscope 1999, 109: 661-663. PMID: 10201760, DOI: 10.1097/00005537-199904000-00027.Peer-Reviewed Original ResearchConceptsSquamous cell carcinomaCell carcinomaPolymerase chain reactionPrimary squamous cell carcinomaHuman squamous cell carcinomaEvidence of mutationsPresence of mutationsCommon malignancyUnselected populationCarcinomaStudy designMajor causeChain reactionPatientsCandidate genesPatched geneMolecular mechanismsTumorigenesisMutationsSequence alterationsMalignancyConformational polymorphismTumorsGenesMortality
1996
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Research 1996, 56: 4599-601. PMID: 8840969.Peer-Reviewed Original ResearchConceptsNevoid basal cell carcinoma syndromeNBCCS patientsMultiple basal cell carcinomasNevoid basal cell carcinoma syndrome patientsBasal cell carcinoma syndromeMultisystem autosomal dominant disorderBasal cell carcinomaAutosomal dominant disorderOvarian fibromaCell carcinomaSuch tumorsSyndrome patientsCarcinoma syndromePlantar pitsOdontogenic keratocystsEctopic calcificationGorlin syndromeClinical phenotypeDevelopmental anomaliesSyndromePatientsDominant disorderIntrafamilial variabilityTumorsHuman homologue
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
Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9
Gailani M, Bale S, Leffell D, DiGiovanna J, Peck G, Poliak S, Drum M, Pastakia B, McBride O, Kase R, Greene M, Mulvihill J, Bale A. Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992, 69: 111-117. PMID: 1348213, DOI: 10.1016/0092-8674(92)90122-s.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaSporadic basal cell carcinomasCell carcinomaLoss of heterozygosityGorlin syndromeHereditary tumorsTumor suppressor geneHereditary basal cell carcinomasMultiple congenital anomaliesSuppressor geneAutosomal dominant disorderOvarian fibromaCongenital anomaliesCarcinomaGermline mutationsHereditary disorderPutative tumor suppressor geneDevelopmental defectsSyndromeGorlin syndrome geneDominant disorderAllelic lossGenetic linkage studiesTumorsTumor suppressorPRAD1 (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