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
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 › SPC36
Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.
Maturo MG et al.
Scientific Reports, 2020
32409749 (PubMed )
Supplement: 41598_2020_65057_MOESM1_ESM.pdf
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
Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.
Kato C et al.
Familial Cancer, 2017
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
Nevoid basal cell carcinoma syndrome (Gorlin syndrome).
Lo Muzio L
Orphanet Journal of Rare Diseases, 2008
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
Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome.
Abe S et al.
Acta Dermato-venereologica, 2008
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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