(Q24681399)

2

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M D Michalec

3

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Y Zhang

4

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M L Marazita

5

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M Cooper

6

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O M Yassin

7

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M Nusier

8

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S Walker

Journal of Medical Genetics

9

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language of work or name

English

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publication date

February 2000

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published in

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volume

37

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issue

2

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page(s)

95-101

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cites work

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

7 April 2017

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Human dipeptidyl-peptidase I. Gene characterization, localization, and expression

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

7 April 2017

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

7 April 2017

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Cathepsin C from Schistosoma japonicum--cDNA encoding the preproenzyme and its phylogenetic relationships

7 April 2017

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

7 April 2017

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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

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Clinical spectrum of fibroblast growth factor receptor mutations

28 September 2017

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A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.

28 September 2017

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Periodontal diseases: epidemiology

28 September 2017

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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

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Nonparametric simulation-based statistics for detecting linkage in general pedigrees

28 September 2017

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28 September 2017

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LFA-1 immunodeficiency disease. Definition of the genetic defect and chromosomal mapping of alpha and beta subunits of the lymphocyte function-associated antigen 1 (LFA-1) by complementation in hybrid cells

28 September 2017

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Construction of multilocus genetic linkage maps in humans

28 September 2017

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Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.

28 September 2017

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Prepubertal periodontitis: a review of diagnostic criteria, pathogenesis, and differential diagnosis

28 September 2017

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A second-generation linkage map of the human genome

28 September 2017

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

28 September 2017

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Periodontal diseases: pathogenesis

28 September 2017

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Periodontal diseases: diagnosis

28 September 2017

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Defective intracellular activity of GDP-D-mannose-4,6-dehydratase in leukocyte adhesion deficiency type II syndrome

28 September 2017

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Genetic factors in the pathogenesis of periodontitis

30 May 2018

1 reference

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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=1734516

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

30 May 2018

1 reference

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Clinical, laboratory, and immunological studies of a family with a high prevalence of generalized prepubertal and juvenile periodontitis

30 May 2018

1 reference

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Exact transmission-disequilibrium tests with multiallelic markers.

30 May 2018

1 reference

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Reevaluation of the chromosome 4q candidate region for early onset periodontitis

28 November 2018

1 reference

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Evidence for autosomal dominant inheritance and race-specific heterogeneity in early-onset periodontitis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734516

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

28 November 2018

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12 December 2020

Possible autosomal-dominant inheritance of prepubertal periodontitis in an extended kindred

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12 December 2020

Prepubertal periodontitis. I. Definition of a clinical disease entity

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12 December 2020

An autosomal-dominant form of juvenile periodontitis: its localization to chromosome 4 and linkage to dentinogenesis imperfecta and Gc

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12 December 2020

Late onset Papillon-Lefèvre syndrome? A chromosomic, neutrophil function and microbiological study

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12 December 2020

Partial expression of the Papillon-Lefèvre syndrome in 2 unrelated families

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12 December 2020