Associated Papers
Recurrent central odontogenic fibroma in a patient with nevoid basal cell carcinoma syndrome: case report and in vitro analysis.
Yadav DK et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2024
Molecular Profiling and the Interaction of Somatic Mutations with Transcriptomic Profiles in Non-Melanoma Skin Cancer (NMSC) in a Population Exposed to Arsenic.
Jasmine F et al.
Cells, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
PTCH1 Gene Variants, mRNA Expression, and Bioinformatics Insights in Mexican Cutaneous Squamous Cell Carcinoma Patients.
Zambrano-Román M et al.
Biology, 2024
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.
Wang Y et al.
Translational Vision Science & Technology, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Whole-Exome Sequencing Could Distinguish Primary Pulmonary Squamous Cell Carcinoma From Lung Metastases in Individuals With Cervical Squamous Cell Carcinoma.
Li L et al.
Pathology Oncology Research : Por, 2022
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Profile of Basal Cell Carcinoma Mutations and Copy Number Alterations - Focus on Gene-Associated Noncoding Variants.
Nawrocka PM et al.
Frontiers in Oncology, 2021
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
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
Genetic landscape and ligand-dependent activation of sonic hedgehog-Gli1 signaling in chordomas: a novel therapeutic target.
Yang C et al.
Oncogene, 2020
Mutation of the PTCH1 gene predicts recurrence of breast cancer.
Wang CY et al.
Scientific Reports, 2019
The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models.
Katayama R et al.
Nature Communications, 2019
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Marini NJ et al.
American Journal of Medical Genetics. Part A, 2019
Identification of potentially druggable molecular alterations in skin adnexal malignancies.
Cavalieri S et al.
The Journal of Dermatology, 2019
Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.
Khater F et al.
Jama Network Open, 2019
A Chinese family affected by lynch syndrome caused by MLH1 mutation.
Jia S et al.
Bmc Medical Genetics, 2018
Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.
Zhou QH et al.
Cell Death & Disease, 2018
Circulating tumor DNA shows variable clonal response of breast cancer during neoadjuvant chemotherapy.
Kim JY et al.
Oncotarget, 2017
[Association of genetic polymorphisms in HjV-BMPs-SMADs pathway of hepcidin regulation with the incidence of anemia in Chinese adolescent aged 12 -18 years old].
Piao W et al.
Wei Sheng Yan Jiu = Journal of Hygiene Research, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
PTCH1 mutation is a frequent event in oesophageal basaloid squamous cell carcinoma.
Saito T et al.
Mutagenesis, 2015
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Mutations in Hedgehog pathway genes in fetal rhabdomyomas.
Hettmer S et al.
The Journal of Pathology, 2013
Association between PTCH1 polymorphisms and risk of neural tube defects in a Chinese population.
Wang Z et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2013
Integrated genotypic analysis of hedgehog-related genes identifies subgroups of keratocystic odontogenic tumor with distinct clinicopathological features.
Shimada Y et al.
Plos One, 2013
Association of SMO polymorphisms and neural tube defects in the Chinese population from Shanxi Province.
Wang Z et al.
International Journal of Clinical and Experimental Medicine, 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
Polymorphisms in PTCH1 affect the risk of ameloblastoma.
Kawabata T et al.
Journal of Dental Research, 2005
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.
Pastorino L et al.
Human Mutation, 2005
Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.
Boutet N et al.
The Journal of Investigative Dermatology, 2003
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.
Fujii K et al.
Human Mutation, 2003
Analysis of the PTCH coding region in human rhabdomyosarcoma.
Calzada-Wack J et al.
Human Mutation, 2002