Associated Papers
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Berkay EG et al.
American Journal of Medical Genetics. Part A, 2021
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.
Ma D et al.
Medicine, 2018
30095610 (PubMed )
Supplement: medi-97-e11328-s001.doc
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
Jaruga A et al.
Clinical Genetics, 2016
Core binding factor β of osteoblasts maintains cortical bone mass via stabilization of Runx2 in mice.
Lim KE et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
RUNX2 analysis of Danish cleidocranial dysplasia families.
Hansen L et al.
Clinical Genetics, 2011
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE et al.
Human Mutation, 2010
Perspectives on RUNX genes: an update.
Cohen MM
American Journal of Medical Genetics. Part A, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
Cunningham ML et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
Otto F et al.
Human Mutation, 2002
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
Quack I et al.
American Journal of Human Genetics, 1999
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