2002
Immunolocalization of PTCH Protein in Odontogenic Cysts and Tumors
Barreto D, Bale A, De Marco L, Gomez R. Immunolocalization of PTCH Protein in Odontogenic Cysts and Tumors. Journal Of Dental Research 2002, 81: 757-760. PMID: 12407090, DOI: 10.1177/0810757.Peer-Reviewed Original Research
2000
Identification of PATCHED mutations in medulloblastomas by direct sequencing
Dong J, Gailani M, Pomeroy S, Reardon D, Bale A. Identification of PATCHED mutations in medulloblastomas by direct sequencing. Human Mutation 2000, 16: 89-90. PMID: 10874314, DOI: 10.1002/1098-1004(200007)16:1<89::aid-humu18>3.0.co;2-7.Peer-Reviewed Original ResearchConceptsSingle-strand conformational polymorphismSporadic medulloblastomasPTCH genePatched mutationsAberrant splicingPTCH proteinSSCP screeningMutant allelesStrand conformational polymorphismSplice site alterationsChromosome 9q22Nonsense mutationSite alterationMutationsFrequency of mutationsConformational polymorphismDNA samplesMalignant embryonic tumorGenesNovel variantsPTCH mutationsDirect sequencingAllelesNevoid basal cell carcinoma syndromePtch allele