Associated Papers
Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.
Sarantou S et al.
Molecular Biology Reports, 2024
Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.
Deconte D et al.
Journal of Pediatric Genetics, 2021
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
Cherubism: A Case Report with Surgical Intervention.
Friedrich RE et al.
Anticancer Research, 2016
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?
Uyar B et al.
Molecular Biosystems, 2014
25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s002.zip › Supplementary_file_9.xlsx › A__OMIM_dataset
Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism.
Sangu N et al.
Congenital Anomalies, 2013
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.
Prescott T et al.
European Journal of Medical Genetics, 2013
Anti-tumor necrosis factor treatment in cherubism--clinical, radiological and histological findings in two children.
Hero M et al.
Bone, 2013
Structural basis and sequence rules for substrate recognition by Tankyrase explain the basis for cherubism disease.
Guettler S et al.
Cell, 2011
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