(Q34390812)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364527%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

title

The gene for cherubism maps to chromosome 4p16.3. (English)

1 reference

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8 December 2019

2

1 reference

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8 December 2019

Sarah Edkins

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364527%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

David R. FitzPatrick

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364527%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

author name string

Mangion J

1

1 reference

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8 December 2019

Barfoot R

4

1 reference

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8 December 2019

Nguyen T

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364527%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Sigurdsson A

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364527%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Townend JV

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364527%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Flanagan AM

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364527%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

Stratton MR

10

1 reference

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8 December 2019

language of work or name

English

0 references

publication date

1 July 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364527%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

8 December 2019

published in

1 reference

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8 December 2019

volume

65

1 reference

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8 December 2019

issue

1

1 reference

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8 December 2019

page(s)

151-157

1 reference

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Study of the cell biology and biochemistry of cherubism

8 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Intraoral giant cell lesions: the peripheral and central forms of these entities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Cherubism: diagnostic imaging and review of the literature in Japan

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Cherubism: report of an aggressive case and review of the literature.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Central giant cell granuloma or cherubism. Report of a case.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Unilateral mandibular cherubism: Brief review and case report

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

The Noonan syndrome/cherubism association

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

The multinucleate cells in giant cell granulomas of the jaw are osteoclasts

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Noonan-like/multiple giant cell lesion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Cherubism: diagnosis, treatment, and comparison with central giant cell granulomas and giant cell tumors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Cherubism: A study of twenty cases from one family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Cherubism-an initial unilateral presentation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378085

27 October 2018

1 reference

12 December 2020

Fibrous dysplasia and cherubism as an hereditary familial disease. Follow-up of four generations

1 reference

12 December 2020

Cherubism: a study of three generations

1 reference

12 December 2020

1 reference

12 December 2020

Giant cell lesions complicating fibro-osseous conditions of the jaws

1 reference

12 December 2020

Cherubism. Findings in three cases in the same family

1 reference

12 December 2020

Gingival fibromatosis combined with cherubism

1 reference

12 December 2020

Cherubism: presentation of a case

1 reference

12 December 2020

Multiple central giant cell lesions with a Noonan-like phenotype

1 reference

12 December 2020

1 reference

12 December 2020

Cherubism and its orbital manifestations

1 reference

12 December 2020

Identifiers

DOI

10.1086/302454

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364527%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10364527%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference