Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.

American journal of medical genetics - 19 Dec 1997

Wicking C, Gillies S, Smyth I, Shanley S, Fowles L, Ratcliffe J, Wainwright B, Chenevix-Trench G

Abstract excerpt

The demonstration that mutations in the Patched (PTCH) gene cause nevoid basal cell carcinoma syndrome (NBCCS) has led to the identification of the exact molecular lesion in a percentage of individuals with the syndrome. In addition, it has been possible to determine, through molecular analysis of parents and other relatives of these individuals, if the mutation is inherited or has arisen de novo. We have...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to DNA, Neoplasm

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Microsatellite Repeats

Share to Mutation

Share to Phenotype

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 9415689

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype.PMID 9415689Read ↗

Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.Semantic proximity Read ↗

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.Semantic proximity Read ↗

New mutations and an updated database for the patched-1 (PTCH1) gene.Semantic proximity Read ↗

PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.Semantic proximity Read ↗

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32.Semantic proximity Read ↗

Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.Semantic proximity Read ↗

Identification of Mutations in the Human PATCHED Gene in Sporadic Basal Cell Carcinomas and in Patients with the Basal Cell Nevus SyndromeSemantic proximity Read ↗

UV-specific mutations of the human patched gene in basal cell carcinomas from normal individuals and xeroderma pigmentosum patients.Semantic proximity Read ↗

Basal cell nevus syndrome.Semantic proximity Read ↗

Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.