(Q24680413)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

5

1 reference

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3 November 2019

author name string

Y Zhang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

T Lundgren

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

S Renvert

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

D N Tatakis

4

1 reference

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3 November 2019

C Uygur

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

P S Hart

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M C Gorry

8

1 reference

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3 November 2019

J J Marks

9

1 reference

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3 November 2019

T C Hart

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 February 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

3 November 2019

published in

1 reference

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3 November 2019

volume

38

1 reference

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3 November 2019

issue

2

1 reference

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3 November 2019

page(s)

96-101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients

3 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

Tandem repeats finder: a program to analyze DNA sequences

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

THE SYNDROME OF PALMAR-PLANTAR HYPERKERATOSIS AND PREMATURE PERIODONTAL DESTRUCTION OF THE TEETH. A CLINICAL AND GENETIC ANALYSIS OF THE PAPILLON-LEF'EVRE SYNDROME.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

A physical map of 30,000 human genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

PowerBLAST: a new network BLAST application for interactive or automated sequence analysis and annotation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

The Papillon-Lefèvre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

Papillon-Lefèvre syndrome. Reappraisal of etiology, clinical features and treatment. II. Oral rehabilitation using osseointegrated implants.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734811

An integrated physical and genetic map of the PLS locus interval on chromosome 11q14

30 May 2018

1 reference

12 December 2020

Sublocalization of the Papillon-Lefevre syndrome locus on 11q14-q21

1 reference

12 December 2020

Subgingival microbial profile of Papillon-Lefèvre patients assessed by DNA-probes

1 reference

12 December 2020

Saliva composition in children and young adults with Papillon-Lefèvre syndrome

1 reference

12 December 2020

Systemic retinoid medication and periodontal health in patients with Papillon-Lefèvre syndrome

1 reference

12 December 2020

Papillon-Lefevre syndrome. A report of six cases in one family

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.38.2.96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

11158173

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11158173%20AND%20SRC:MED&resulttype=core&format=json