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A novel PTCH1 mutation in a patient with Gorlin syndrome
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
retrieved
7 September 2017
title
A novel PTCH1 mutation in a patient with Gorlin syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
retrieved
7 September 2017
author
Issei Imoto
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27081512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
author name string
Nana Okamoto
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27081512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
Takuya Naruto
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27081512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
Tomohiro Kohmoto
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27081512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
Takahide Komori
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27081512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
publication date
13 November 2014
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
retrieved
7 September 2017
published in
Human Genome Variation
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27081512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
volume
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27081512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
page(s)
14022
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27081512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
copyright license
Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported
start time
13 November 2014
1 reference
stated in
April 2022 Public Data File from Crossref
copyright status
copyrighted
0 references
exact match
https://scigraph.springernature.com/pub.10.1038/hgv.2014.22
0 references
cites work
Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 2017
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 2017
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 2017
Fast and accurate short read alignment with Burrows-Wheeler transform
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 2017
Nevoid basal cell carcinoma syndrome (Gorlin syndrome)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 2017
Circular binary segmentation for the analysis of array-based DNA copy number data
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 2017
Nonsense-mediated decay approaches the clinic
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 2017
Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 2017
Hedgehog signaling in animal development: paradigms and principles
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 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
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 2017
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 2017
Human homolog of patched, a candidate gene for the basal cell nevus syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
9 September 2017
Nevoid basal-cell carcinoma syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
14 September 2017
The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
25 September 2017
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
17 June 2018
High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
17 June 2018
Identification of a SUFU germline mutation in a family with Gorlin syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785514
retrieved
22 August 2018
Identifiers
DOI
10.1038/HGV.2014.22
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27081512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
Dimensions Publication ID
1042347022
0 references
PMC publication ID
4785514
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27081512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
PubMed publication ID
27081512
1 reference
stated in
Europe PubMed Central
PMC publication ID
4785514
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27081512%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 June 2020
ResearchGate publication ID
287340467
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