Associated Papers
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome.
Nakase Y et al.
Human Genome Variation, 2020
Analytical performance evaluation of a commercial next generation sequencing liquid biopsy platform using plasma ctDNA, reference standards, and synthetic serial dilution samples derived from normal plasma.
Verma S et al.
Bmc Cancer, 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
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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
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
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.
Slade I et al.
Familial Cancer, 2011
PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.
Sun LS et al.
Journal of Dental Research, 2008
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