(Q50357233)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Localization of the gene for hyperostosis cranialis interna to chromosome 8p21 with analysis of three candidate genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

hyperostosis cranialis interna

29 February 2020

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Wim Van Hul

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

J J Waterval

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

R J Stokroos

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

J J Manni

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

language of work or name

English

0 references

publication date

3 May 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

Calcified Tissue International

29 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

93-100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

Sclerosing bone disorders: too much of a good thing

29 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Eighth cranial nerve dysfunction in hyperostosis cranialis interna

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Imaging features and progression of hyperostosis cranialis interna.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Comprehensive human genetic maps: individual and sex-specific variation in recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

An economic method for the fluorescent labeling of PCR fragments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Speeding disease gene discovery by sequence based candidate prioritization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Gene prioritization through genomic data fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

ENDEAVOUR update: a web resource for gene prioritization in multiple species

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Bone morphogenetic protein (BMP)1-3 enhances bone repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Developmental roles of the BMP1/TLD metalloproteinases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

1,25(OH)2D3 regulates collagen quality in an osteoblastic cell culture system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Lysyl oxidase-like-2 (LOXL2) is a major isoform in chondrocytes and is critically required for differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Lysyl oxidase (lox) gene deficiency affects osteoblastic phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

MT1-MMP inactivates ADAM9 to regulate FGFR2 signaling and calvarial osteogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

When MT1-MMP meets ADAMs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

ADAM8 enhances osteoclast precursor fusion and osteoclast formation in vitro and in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

New sequence variants associated with bone mineral density

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

High-bone-mass disease and LRP5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Linkage analysis in the next-generation sequencing era

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-013-9732-8

10.1007/S00223-013-9732-8

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23640157%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference