Associated Papers
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants
Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome.
Nakase Y et al.
Human Genome Variation, 2020
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC34
Genetic landscape and ligand-dependent activation of sonic hedgehog-Gli1 signaling in chordomas: a novel therapeutic target.
Yang C et al.
Oncogene, 2020
Global gene expression of histologically normal primary skin cells from BCNS subjects reveals "single-hit" effects that are influenced by rapamycin.
Phatak A et al.
Oncotarget, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
30967997 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.
Musani V et al.
Croatian Medical Journal, 2018
PTCH1 mutation and local aggressiveness of odontogenic keratocystic tumors in children: is there a relationship?
Kadlub N et al.
Human Pathology, 2013
PTCH1 gene polymorphisms in ovarian tumors: potential protective role of c.3944T allele.
Musani V et al.
Gene, 2013
Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations.
Stefanius K et al.
Virchows Archiv : an International Journal of Pathology, 2011
PTCH1 gene haplotype association with basal cell carcinoma after transplantation.
Begnini A et al.
The British Journal of Dermatology, 2010
PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.
Sun LS et al.
Journal of Dental Research, 2008
18502968 (PubMed )
Supplement: 575-070403apx.pdf
PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.
Li TJ et al.
Oral Diseases, 2008
UV fingerprints predominate in the PTCH mutation spectra of basal cell carcinomas independent of clinical phenotype.
Heitzer E et al.
The Journal of Investigative Dermatology, 2007
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.
Pastorino L et al.
Human Mutation, 2005
Analysis of the PTCH coding region in human rhabdomyosarcoma.
Calzada-Wack J et al.
Human Mutation, 2002
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