Associated Papers
Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients.
Hercent A et al.
Clinical and Experimental Dermatology, 2025
Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.
Huang F et al.
Scientific Reports, 2022
35688842 (PubMed )
Supplement: 41598_2022_13391_MOESM5_ESM.xlsx › NGS_data
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation
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
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.
Suzuki H et al.
Nature, 2019
31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5
Integrated genotypic analysis of hedgehog-related genes identifies subgroups of keratocystic odontogenic tumor with distinct clinicopathological features.
Shimada Y et al.
Plos One, 2013
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
Guo YY et al.
Plos One, 2013
Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome.
Suzuki M et al.
Journal of Human Genetics, 2012
PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.
Soufir N et al.
British Journal of Cancer, 2006
Select a paper to view details