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
Unveiling Cleidocranial Dysplasia: An Antenatal Journey Through Ultrasound and Delivering the Importance of Taking Phenotype History; "Echoes of the Past".
Tekwani R et al.
Journal of Clinical Ultrasound : Jcu, 2025
Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia: A case report.
Wang F et al.
World Journal of Clinical Cases, 2025
A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.
Berber U et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025
A Chinese premature infant with cleidocranial dysplasia characterized by heterozygous RUNX2 mutation and cerebral infarction: a case report.
Zhao W et al.
Frontiers in Pediatrics, 2025
Clinical and Radiological Insights of Cleidocranial Dysplasia: A Case Report of a Rare Medical Condition.
Gowda Venkatesha RR et al.
Cureus, 2024
New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.
Toral López J et al.
Biology, 2024
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Zhao S et al.
Nature Communications, 2024
Functional consequences of C-terminal mutations in RUNX2.
Thaweesapphithak S et al.
Scientific Reports, 2023
Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.
Kalayci Yigin A et al.
Global Medical Genetics, 2022
Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.
Thaweesapphithak S et al.
Journal of Applied Oral Science : Revista Fob, 2022
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.
Inchingolo AD et al.
Medicina (kaunas, Lithuania), 2021
Molecular Genetics of Cleidocranial Dysplasia.
Motaei J et al.
Fetal and Pediatric Pathology, 2021
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Berkay EG et al.
American Journal of Medical Genetics. Part A, 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 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
[Clinical and molecular study in a family with cleidocranial dysplasia].
Callea M et al.
Archivos Argentinos De Pediatria, 2017
Blood malignancies presenting with mutations at equivalent residues in RUNX1-2 suggest a common leukemogenic pathway.
Callea M et al.
Leukemia & Lymphoma, 2017
Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.
Zeng L et al.
Mutagenesis, 2017
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
[Cleidocranial dysplasia: a case report].
Medina O et al.
Revista Chilena De Pediatria, 2017
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
Jaruga A et al.
Clinical Genetics, 2016
Orthodontic treatment of a patient with cleidocranial dysplasia: A case report.
Li ZJ et al.
Experimental and Therapeutic Medicine, 2016
Generation of cleidocranial dysplasia-specific human induced pluripotent stem cells in completely serum-, feeder-, and integration-free culture.
Yamasaki S et al.
In Vitro Cellular & Developmental Biology. Animal, 2016
Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: a rare presentation and an analysis of the RUNX2 protein structure.
Wu LZ et al.
Genetics and Molecular Research : Gmr, 2014
RUNX2 mutations in cleidocranial dysplasia.
Lee KE et al.
Genetics and Molecular Research : Gmr, 2013
Cleidocranial dysplasia: oral features and genetic analysis of 11 patients.
Bufalino A et al.
Oral Diseases, 2012
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia.
Lin WD et al.
Genetics and Molecular Biology, 2011
RUNX2 analysis of Danish cleidocranial dysplasia families.
Hansen L et al.
Clinical Genetics, 2011
Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia.
Suda N et al.
Orthodontics & Craniofacial Research, 2010
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
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails.
Tang S et al.
Bmc Medical Genetics, 2007
[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
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.
Kim HJ et al.
Journal of Cellular Physiology, 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
[Gene mutation detection in a cleidocranial dysplasia family].
Wang Y et al.
Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2005
[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
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
Quack I et al.
American Journal of Human Genetics, 1999
Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.
Napierala D et al.
Molecular Genetics and Metabolism, 0