Phenotype of ENAM mutations is dosage-dependent (Q37255498)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16246937%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Phenotype of ENAM mutations is dosage-dependent (English)

1 reference

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8 January 2020

1 reference

1

1 reference

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8 January 2020

Erhan Firatli

3

1 reference

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8 January 2020

author name string

P S Hart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16246937%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

G Aren

4

1 reference

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8 January 2020

O H Ryu

5

1 reference

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8 January 2020

T C Hart

6

1 reference

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8 January 2020

language of work or name

English

0 references

publication date

1 November 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16246937%20AND%20SRC:MED&resulttype=core&format=json

Journal of Dental Research

8 January 2020

published in

1 reference

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8 January 2020

volume

84

1 reference

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8 January 2020

issue

11

1 reference

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8 January 2020

page(s)

1036-1041

1 reference

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MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

8 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Enamelin and autosomal-dominant amelogenesis imperfecta.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Relationship of phenotype and genotype in X-linked amelogenesis imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Amelogenesis imperfecta: a classification and catalogue for the 21st century

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

A nomenclature for X-linked amelogenesis imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Craniofacial features associated with amelogenesis imperfecta

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Inherited enamel defects.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2708095

Relationship of Phenotype and Genotype in X-Linked Amelogenesis Imperfecta

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1177%2F154405910508401113

Facial morphology and open bite deformity in amelogenesis imperfecta. A roentgenocephalometric study

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16246937

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hereditary aspects and classification of hereditary amelogenesis imperfecta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16246937

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Primary structure of the porcine 89-kDa enamelin

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16246937

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1177/154405910508401113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16246937%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16246937%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference