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
Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.
Onodera S et al.
International Journal of Molecular Sciences, 2020
Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.
Maturo MG et al.
Scientific Reports, 2020
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
New mutations and an updated database for the patched-1 (PTCH1) gene.
Reinders MG et al.
Molecular Genetics & Genomic Medicine, 2018
Heterozygous PTCH1 Mutations Impact the Bone Metabolism in Patients With Nevoid Basal Cell Carcinoma Syndrome Likely by Regulating SPARC Expression.
Hong Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
Guo YY et al.
Plos One, 2013
Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.
Takahashi C et al.
Journal of Human Genetics, 2009
Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays.
Nagao K et al.
Human Molecular Genetics, 2005
DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
Marsh A et al.
Human Mutation, 2005
Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.
Fujii K et al.
Human Mutation, 2003
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
Klein RD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Nevoid Basal Cell Carcinoma Syndrome: Three Cases from the Same Family.
Yan Y et al.
Indian Journal of Dermatology, 0