Associated Papers
Neonatal Familiar Cleidocranial Dysplasia: A Case Report.
Zhao S et al.
The American Journal of Case Reports, 2025
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia.
Yang L et al.
Medicine, 2021
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Berkay EG et al.
American Journal of Medical Genetics. Part A, 2021
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Hordyjewska-Kowalczyk E et al.
Clinical Genetics, 2019
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
Blood malignancies presenting with mutations at equivalent residues in RUNX1-2 suggest a common leukemogenic pathway.
Callea M et al.
Leukemia & Lymphoma, 2017
Cleidocranial dysplasia: oral features and genetic analysis of 11 patients.
Bufalino A et al.
Oral Diseases, 2012
RUNX2 analysis of Danish cleidocranial dysplasia families.
Hansen L et al.
Clinical Genetics, 2011
Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia.
Zhang C et al.
Mutagenesis, 2010
Perspectives on RUNX genes: an update.
Cohen MM
American Journal of Medical Genetics. Part A, 2009
[Cleidocranial dysplasia. Description and analysis of a patient cohort].
Baumert U et al.
Mund-, Kiefer- Und Gesichtschirurgie : Mkg, 2006
Clarification of data reported in "cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group" (AJMG 139A:78-85).
Baumert U et al.
American Journal of Medical Genetics. Part A, 2006
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
[Inter- and intrafamilial expression of cleidocranial dysostosis].
Golan I et al.
L' Orthodontie Francaise, 2003
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
Otto F et al.
Human Mutation, 2002
Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.
Napierala D et al.
Molecular Genetics and Metabolism, 0