(Q42208514)

English

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

scientific article published on August 2006

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

nevoid basal cell carcinoma syndrome

1 reference

based on heuristic

inferred from title

author name string

N Soufir

1

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

B Gerard

2

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

M Portela

3

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

A Brice

4

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

M Liboutet

5

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

P Saiag

6

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

V Descamps

7

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

D Kerob

8

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

P Wolkenstein

9

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

I Gorin

10

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

C Lebbe

11

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

N Dupin

12

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

B Crickx

13

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

N Basset-Seguin

14

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

B Grandchamp

15

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

language of work or name

0 references

publication date

1 August 2006

1 reference

Europe PubMed Central

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18 October 2017

British Journal of Cancer

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

95

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

4

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

548-553

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

https://scigraph.springernature.com/pub.10.1038/sj.bjc.6603303

0 references

Nevoid basal cell carcinoma (Gorlin) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

PTCH polymorphism is associated with the rate of increase in basal cell carcinoma numbers during follow-up: preliminary data on the influence of an exon 12-exon 23 haplotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

Gene quantification using real-time quantitative PCR: an emerging technology hits the mainstream

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

Molecular basis of the nevoid basal cell carcinoma syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

Activating Smoothened mutations in sporadic basal-cell carcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

Human homolog of patched, a candidate gene for the basal cell nevus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

Nevoid basal cell carcinoma syndrome: review of 118 affected individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

26 October 2017

DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

29 May 2018

PTCH codon 1315 polymorphism and risk for nonmelanoma skin cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

29 May 2018

Susceptibility to basal cell carcinoma: associations with PTCH polymorphisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

29 May 2018

NBCCS secondary to an interstitial chromosome 9q deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

29 May 2018

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

29 May 2018

Alteration of the PATCHED locus in superficial bladder cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

29 May 2018

Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

29 May 2018

Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

29 May 2018

Location of gene for Gorlin syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

29 May 2018

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

17 August 2018

Nomenclature for the description of human sequence variations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2360669

17 August 2018

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BJC.6603303

21 January 2018

Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.BJC.6603303

21 January 2018

[A nevoid basal cell carcinoma syndrome with chromosomal aberration]

1 reference

https://pubmed.ncbi.nlm.nih.gov/16909134

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/SJ.BJC.6603303

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 October 2017

ResearchGate publication ID

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