(Q36843000)

16 August 2017

Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia (English)

1 reference

16 August 2017

10

Yuan-Tsong Chen

1 reference

16 August 2017

Ming Ta Michael Lee

1

1 reference

16 August 2017

Anne Chun-Hui Tsai

2

1 reference

16 August 2017

Ching-Heng Chou

3

1 reference

16 August 2017

Feng-Mei Sun

4

1 reference

16 August 2017

Li-Chen Huang

5

1 reference

16 August 2017

Pauline Yen

6

1 reference

16 August 2017

Chyi-Chyang Lin

7

1 reference

16 August 2017

Chih-Yang Liu

8

1 reference

16 August 2017

Jer-Yuarn Wu

9

1 reference

16 August 2017

Fuu-Jen Tsai

11

1 reference

16 August 2017

1 January 2008

1 reference

16 August 2017

1 reference

16 August 2017

2

1 reference

16 August 2017

1-2

1 reference

16 August 2017

45-49

1 reference

Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518658

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518658

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518658

Cleidocranial dysplasia: clinical and molecular genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518658

Proviral insertions induce the expression of bone-specific isoforms of PEBP2alphaA (CBFA1): evidence for a new myc collaborating oncogene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518658

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518658

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518658

Genetic applications of an inverse polymerase chain reaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2518658

A natural history of cleidocranial dysplasia.

29 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11568-008-9024-Y

Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11568-008-9024-Y

Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11568-008-9024-Y

Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function

21 January 2018

1 reference

12 December 2020

Intrafamilial variability in cleidocranial dysplasia: a three generation family

1 reference

12 December 2020

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

1 reference

12 December 2020

Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome

1 reference

12 December 2020

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

1 reference

12 December 2020

Cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group

1 reference

12 December 2020

10.1007/S11568-008-9024-Y

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

18696259

1 reference