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Last Updated: 10/31/2025

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Found 103 publications

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis.

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis.

Journal: American journal of medical genetics. Part A
Published: March 18, 2025

Long-Term Denosumab Treatment in Adults with Juvenile Paget Disease.

Long-Term Denosumab Treatment in Adults with Juvenile Paget Disease.

Journal: Calcified tissue international
Published: February 14, 2025

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

Journal: Calcified tissue international
Published: February 05, 2025

Surprising diagnosis of Paget's disease of bone during malignancy diagnosis.

Surprising diagnosis of Paget's disease of bone during malignancy diagnosis.

Journal: Endokrynologia Polska
Published: September 17, 2024

Osteoporosis and Bone Fragility in Children: Diagnostic and Treatment Strategies.

Osteoporosis and Bone Fragility in Children: Diagnostic and Treatment Strategies.

Journal: Journal of clinical medicine
Published: June 29, 2024

Paget Disease as a Rare Mimicker of Giant Cell Arteritis.

Paget Disease as a Rare Mimicker of Giant Cell Arteritis.

Journal: The Journal of rheumatology
Published: February 15, 2024

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.

Journal: Bone
Published: September 15, 2023

Establishment of a TNFRSF11B knock-out human induced pluripotent stem cell line (KSCBi002-B-2) via CRISPR/Cas9 system.

Establishment of a TNFRSF11B knock-out human induced pluripotent stem cell line (KSCBi002-B-2) via CRISPR/Cas9 system.

Journal: Stem cell research
Published: May 10, 2023

Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy.

Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy.

Journal: Bone
Published: November 06, 2022

A Case Report of Bone Paget's Disease with Concurrent Psoriasis and Positive Celiac Serology.

A Case Report of Bone Paget's Disease with Concurrent Psoriasis and Positive Celiac Serology.

Journal: Current medical imaging
Published: October 06, 2022

Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B gene.

Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B gene.

Journal: Orphanet journal of rare diseases
Published: September 08, 2022

Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).

Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).

Journal: Journal of bone and mineral metabolism
Published: September 02, 2022
Showing 1-12 of 103

Last Updated: 10/31/2025