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 Research
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
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 homologueMolecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
Shimkets R, Gailani M, Siu V, Yang-Feng T, Pressman C, Levanat S, Goldstein A, Dean M, Bale A. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. American Journal Of Human Genetics 1996, 59: 417-22. PMID: 8755929, PMCID: PMC1914731.Peer-Reviewed Original ResearchConceptsGorlin syndromeGorlin syndrome patientsSyndrome patientsMultiple basal cell carcinomasConductive hearing lossBasal cell carcinomaAllelic lossCancer predisposition syndromeAutosomal dominant disorderGerm-line deletionOvarian fibromaSecond patientCell carcinomaHearing lossGroup AGroup CPatientsSyndromeDominant mutationsSignificant phenotypic variabilityGorlin syndrome geneDominant disorderNull mutationXeroderma pigmentosum group AIdentical alterations
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 suppressor
1991
Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I
Bale S, Amos C, Parry D, Bale A. Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I. American Journal Of Medical Genetics 1991, 40: 206-210. PMID: 1910262, DOI: 10.1002/ajmg.1320400217.Peer-Reviewed Original ResearchConceptsNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeOccipitofrontal circumferenceCarcinoma syndromeNeurofibromatosis type IHead sizeCaucasian manHead circumferenceProband statusRelative macrocephalyNF1 casesNormal adultsSyndromeRelative abnormalitiesSyndrome delineationType ICircumferenceProbandsNF1Macrocephaly syndromeHeight ratio
1985
Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics
Bale A, Drum M, Parry D, Mulvihill J, Opitz J, Reynolds J. Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics. American Journal Of Medical Genetics 1985, 20: 613-624. PMID: 2581446, DOI: 10.1002/ajmg.1320200407.Peer-Reviewed Original ResearchConceptsSotos syndromeAnterior cranial base angleRecessive inheritance patternDiagnostic criteriaPatient's motherCranial base angleFurther evaluationDevelopmental delayCephalometric radiographsCraniofacial characteristicsSyndromeTwo-generation familyInheritance patternMothersLower facePatientsMaxillary prominenceRadiographs