Associated Papers
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
Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors.
Stojanov IJ et al.
The American Journal of Surgical Pathology, 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
First evidence of genotype-phenotype correlations in Gorlin syndrome.
Evans DG et al.
Journal of Medical Genetics, 2017
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
Guo YY et al.
Plos One, 2013
24204797 (PubMed )
Supplement: pone.0077305.s001.docx
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
Retrospective family study of childhood medulloblastoma.
Ng D et al.
American Journal of Medical Genetics. Part A, 2005
Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.
Tanioka M et al.
Archives of Dermatological Research, 2005
Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant-negative mechanism.
Hime GR et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2004
A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma.
Tate G et al.
Japanese Journal of Clinical Oncology, 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
Select a paper to view details