(Q77425768)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11768584%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11768584%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

main subject

cleidocranial dysplasia

1 reference

3

1 reference

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5 December 2019

author name string

C Bergwitz

1

1 reference

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5 December 2019

A Prochnau

2

1 reference

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5 December 2019

F J Kramer

4

1 reference

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5 December 2019

M Rittierodt

5

1 reference

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5 December 2019

H L Berten

6

1 reference

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5 December 2019

J E Hausamen

7

1 reference

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5 December 2019

G Brabant

8

1 reference

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5 December 2019

publication date

1 November 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11768584%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

5 December 2019

published in

1 reference

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5 December 2019

volume

24

1 reference

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5 December 2019

issue

6

1 reference

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5 December 2019

page(s)

648-656

1 reference

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Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice

5 December 2019

cites work

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Morphological characterization of skeletal cells in Cbfa1-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Cbfa1 as a regulator of osteoblast differentiation and function

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh)

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Development of the dentition in cleidocranial dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

The localized requirements for a gene affecting segmentation in Drosophila: analysis of larvae mosaic for runt

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Craniofacial growth in cleidocranial dysplasia--a roentgencephalometric study

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Cleidocranial dysplasia in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Immunoglobulin motif DNA recognition and heterodimerization of the PEBP2/CBF Runt domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Assessment of fracture risk and its application to screening for postmenopausal osteoporosis. Report of a WHO Study Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Cbfa1 in bone development

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Cleidocranial dysplasia: clinical and molecular genetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Characteristics of jaw growth in cleidocranial dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Cleidocranial dysplasia: craniofacial morphology in adult patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Dental treatment strategies in cleidocranial dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Bone mineral density in children and adolescents: relation to puberty, calcium intake, and physical activity.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Bone densitometry in Canadian children 8-17 years of Age.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11768584

12 December 2020

Identifiers

DOI

10.1023/A:1012758925617

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11768584%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 December 2019

1053697264

0 references

1 reference