Associated Papers
Functional impact of pathogenic mutations in the Runt homology domain of mouse Runx2 on skeletal and dental phenotypes in cleidocranial dysplasia.
Ogawa S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Characterization of missense nonsynonymous single-nucleotide polymorphism of runt-related transcription factor-2 gene - An in silico approach.
Shiv R et al.
Indian Journal of Pharmacology, 2024
New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.
Toral López J et al.
Biology, 2024
Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.
Thaweesapphithak S et al.
Journal of Applied Oral Science : Revista Fob, 2022
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Hordyjewska-Kowalczyk E et al.
Clinical Genetics, 2019
Identification of RUNX2 variants associated with cleidocranial dysplasia.
Gao X et al.
Hereditas, 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
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.
Jung YJ et al.
Journal of Cellular Biochemistry, 2018
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.
Hsueh SJ et al.
Bmc Neurology, 2017
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
Zhang X et al.
Plos One, 2017
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE et al.
Human Mutation, 2010
RUNX2 mutations in cleidocranial dysplasia patients.
Ryoo HM et al.
Oral Diseases, 2010
Perspectives on RUNX genes: an update.
Cohen MM
American Journal of Medical Genetics. Part A, 2009
Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia.
Xuan D et al.
Annals of Clinical and Laboratory Science, 2008
[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
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
Tessa A et al.
Human Mutation, 2003
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
Otto F et al.
Human Mutation, 2002
A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene.
Sakai N et al.
The Journal of Craniofacial Surgery, 2002
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
Quack I et al.
American Journal of Human Genetics, 1999