Associated Papers
Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma.
Arthur C et al.
Cancers, 2023
37046633 (PubMed )
Supplement: cancers-15-01972-s001.zip › Table_S2_Table_of_all_tested_ddPCR_assays.xlsx › All_details
The transcriptional landscape of Shh medulloblastoma.
Skowron P et al.
Nature Communications, 2021
33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations
Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.
Onodera S et al.
International Journal of Molecular Sciences, 2020
33066274 (PubMed )
Supplement: ijms-21-07559-s001.pdf
Genetic profiling of basal cell carcinomas detects postzygotic mosaicism in basal cell naevus syndrome.
Reinders MGHC et al.
The British Journal of Dermatology, 2019
Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.
Gianferante DM et al.
Molecular Genetics & Genomic Medicine, 2018
The large intracellular loop of ptch1 mediates the non-canonical Hedgehog pathway through cyclin B1 in nevoid basal cell carcinoma syndrome.
Yu FY et al.
International Journal of Molecular Medicine, 2014
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
Guo YY et al.
Plos One, 2013
24204797 (PubMed )
Supplement: pone.0077305.s001.docx
Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.
Pan S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010
PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.
Sun LS et al.
Journal of Dental Research, 2008
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