2018
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.Peer-Reviewed Original Research
2006
Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies
Brailey L, Davis T, Kolker S, Murry T, Thomas D, Bale A, Ruhoy S. Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies. Journal Of Cutaneous Pathology 2006, 34: 65-70. PMID: 17214858, DOI: 10.1111/j.1600-0560.2006.00580.x.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaBasal cell nevusNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeCell carcinomaHistologic examinationCarcinoma syndromeLinear unilateral basal cell nevusPTCH mutationsBenign clinical behaviorPTCH locusSMO genesCase reportClinical behaviorDifferential diagnosisPatient's lesionFollicular hamartomaLoss of heterozygositySMO mutationsRight flankCarcinomaLesionsNeviShort tandem repeat DNA analysisPTCH
1999
Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G
Topaloglu A, Sansaricq C, Fox J, Bale A, Tuchman M, Desnick R. Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. Journal Of Inherited Metabolic Disease 1999, 22: 82-83. PMID: 10070622, DOI: 10.1023/a:1005411601985.Peer-Reviewed Original Research
1997
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal Of Medical Genetics 1997, 69: 299-308. PMID: 9096761, DOI: 10.1002/(sici)1096-8628(19970331)69:3<299::aid-ajmg16>3.0.co;2-m.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeMean ageCell carcinomaFirst tumorJaw cystsCarcinoma syndromePlantar pitsNumber of BCCsFalx cerebriPalmar/plantar pitsMultiple basal cell carcinomasAffected individualsAutosomal dominant disorderImportant radiological signsOvarian fibromaUS patientsClinical manifestationsPercent of whitesRadiological signsPhysical findingsBifid ribsSprengel's deformityRadiation therapy