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Last Updated: 06/27/2025

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Found 3043 publications

Clinical and genetic characteristics of osteopetrosis in children

Clinical and genetic characteristics of osteopetrosis in children

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: June 04, 2025

Corrigendum: A novel variant in CLCN7 regulates the coupling of angiogenesis and osteogenesis.

Corrigendum: A novel variant in CLCN7 regulates the coupling of angiogenesis and osteogenesis.

Journal: Frontiers in cell and developmental biology
Published: April 23, 2025

Rare Cause of Bone Marrow Failure: Osteopetrosis, Case Series.

Rare Cause of Bone Marrow Failure: Osteopetrosis, Case Series.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: March 31, 2025

Adoptive Transfer of Lepr+ Bone Marrow Cells Attenuates the Osteopetrotic Phenotype of db/db Mice.

Adoptive Transfer of Lepr+ Bone Marrow Cells Attenuates the Osteopetrotic Phenotype of db/db Mice.

Journal: International journal of molecular sciences
Published: March 26, 2025

Ano5 Deficiency Leads to Abnormal Bone Formation via miR-34c-5p/KLF4/β-Catenin in Gnathodiaphyseal Dysplasia.

Ano5 Deficiency Leads to Abnormal Bone Formation via miR-34c-5p/KLF4/β-Catenin in Gnathodiaphyseal Dysplasia.

Journal: International journal of molecular sciences
Published: March 14, 2025

How I do it: Optic nerve decompression in patient with osteopetrosis.

How I do it: Optic nerve decompression in patient with osteopetrosis.

Journal: Acta neurochirurgica
Published: March 03, 2025

Highlighting the importance of X-ray diagnostics for targeted molecular genetic analysis in the diagnosis of rare autosomal dominant craniometaphyseal dysplasia.

Highlighting the importance of X-ray diagnostics for targeted molecular genetic analysis in the diagnosis of rare autosomal dominant craniometaphyseal dysplasia.

Journal: BMJ case reports
Published: February 06, 2025

Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).

Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).

Journal: Bone
Published: January 14, 2025

A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.

A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.

Journal: Molecular and cellular probes
Published: January 08, 2025

Ano5Cys360Tyr mutation leads to bone dysfunction of gnathodiaphyseal dysplasia via disturbing Akt signaling.

Ano5Cys360Tyr mutation leads to bone dysfunction of gnathodiaphyseal dysplasia via disturbing Akt signaling.

Journal: Bone reports
Published: November 18, 2024

Limited Reconstructive Options of Jaw Osteomyelitis in the Osteopetrosis Patient Complicated by Blood Dyscrasia.

Limited Reconstructive Options of Jaw Osteomyelitis in the Osteopetrosis Patient Complicated by Blood Dyscrasia.

Journal: The Journal of craniofacial surgery
Published: November 15, 2024

Evaluation of quality and bone microarchitecture alterations in osteopetrosis patients: assessed by HR-pQCT.

Evaluation of quality and bone microarchitecture alterations in osteopetrosis patients: assessed by HR-pQCT.

Journal: The Journal of clinical endocrinology and metabolism
Published: November 11, 2024
Showing 1-12 of 3,043

Last Updated: 06/27/2025