(Q24310445)

English

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

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981943%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981943%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference

GOA release 2020-03-11

pharyngeal system development

1 reference

GOA release 2020-03-11

1 reference

based on heuristic

inferred from title

nevoid basal cell carcinoma syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

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Georgia Chenevix-Trench

11

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G Chenevix-Trench

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22 October 2019

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C Wicking

1

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Europe PubMed Central

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22 October 2019

S Shanley

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22 October 2019

I Smyth

3

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22 October 2019

S Gillies

4

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22 October 2019

K Negus

5

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22 October 2019

S Graham

6

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Europe PubMed Central

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22 October 2019

G Suthers

7

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22 October 2019

N Haites

8

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22 October 2019

M Edwards

9

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22 October 2019

B Wainwright

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22 October 2019

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1 January 1997

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22 October 2019

American Journal of Human Genetics

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22 October 2019

60

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22 October 2019

1

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22 October 2019

21-26

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Europe PubMed Central

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22 October 2019

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=1712561

19 March 2017

A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

19 March 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=1712561

19 March 2017

Hedgehog is a signaling protein with a key role in patterning Drosophila imaginal discs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

19 March 2017

Compartment boundaries and the control of Drosophila limb pattern by hedgehog protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

19 March 2017

Fine genetic mapping of the gene for 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=1712561

19 March 2017

Conservation of the hedgehog/patched signaling pathway from flies to mice: induction of a mouse patched gene by Hedgehog

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

7 April 2017

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

27 September 2017

Complications of the naevoid basal cell carcinoma syndrome: results of a population based study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

27 September 2017

The Drosophila segment polarity gene patched interacts with decapentaplegic in wing development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

27 September 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=1712561

27 September 2017

Intron splicing: a conserved internal signal in introns of animal pre-mRNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

27 September 2017

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=1712561

27 September 2017

Role of the Drosophila patched gene in positional signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

27 September 2017

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

28 July 2018

Human haploinsufficiency — one for sorrow, two for joy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

29 November 2018

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

29 November 2018

Frequent loss of heterozygosity on chromosome 18 in ovarian adenocarcinoma which does not always include the DCC locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712561

29 November 2018

Genetic analysis of hedgehog signalling in the Drosophila embryo

1 reference

https://pubmed.ncbi.nlm.nih.gov/8981943

12 December 2020

based on heuristic

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981943%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981943%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

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