1999
Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children
Heptulla R, Schwartz R, Bale A, Flynn S, Genel M. Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children. The Journal Of Pediatrics 1999, 135: 327-331. PMID: 10484798, DOI: 10.1016/s0022-3476(99)70129-0.Peer-Reviewed Original ResearchConceptsMedullary thyroid carcinomaFamilial medullary thyroid carcinomaRET geneLymph node metastasisMutation-positive family membersC-cell hyperplasiaEvidence of pathologyDecades of lifeFamily membersGenotype-phenotype correlationCodon 618Node metastasisProvocative testingClinical spectrumCodon 804Extracellular cysteine-rich regionPathologic manifestationsThyroid carcinomaNormal responseGenetic testingCarcinomaChildrenPresymptomatic diagnosisExon 14Microscopic evidence
1997
Complications of the Nevoid Basal Cell Carcinoma Syndrome
Walter A, Pivnick E, Bale A, Kun L. Complications of the Nevoid Basal Cell Carcinoma Syndrome. Journal Of Pediatric Hematology/Oncology 1997, 19: 258-262. PMID: 9201152, DOI: 10.1097/00043426-199705000-00016.Peer-Reviewed Original ResearchConceptsNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeBasal cell carcinomaCell carcinomaCarcinoma syndromeRadiation therapyAdditional basal cell carcinomasTumor DNAMultiple basal cell carcinomasCase reportCutaneous tumorsUnaffected family membersLoss of heterozygosityCarcinomaPatientsSyndromeTherapyGermline DNAMedulloblastomaPhotodynamic therapyGenetic lesionsFamily membersChildrenComplicationsNeoplasms
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