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Page 1
Osteopetrosis.
Stark Z, Savarirayan R. Stark Z, et al. Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. Orphanet J Rare Dis. 2009. PMID: 19232111 Free PMC article. Review.
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. ...These c …
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an i …
Autosomal recessive osteopetrosis: mechanisms and treatments.
Penna S, Villa A, Capo V. Penna S, et al. Dis Model Mech. 2021 May 1;14(5):dmm048940. doi: 10.1242/dmm.048940. Epub 2021 May 10. Dis Model Mech. 2021. PMID: 33970241 Free PMC article. Review.
Autosomal recessive osteopetrosis (ARO) is a severe inherited bone disease characterized by defective osteoclast resorption or differentiation. ...
Autosomal recessive osteopetrosis (ARO) is a severe inherited bone disease characterized by defective osteoclast resorp
Osteopetrosis.
Kocher MS, Kasser JR. Kocher MS, et al. Am J Orthop (Belle Mead NJ). 2003 May;32(5):222-8. Am J Orthop (Belle Mead NJ). 2003. PMID: 12772872 Review.
Three clinically distinct forms of osteopetrosis are recognized--the infantile malignant autosomal recessive form, the intermediate autosomal recessive form, and the adult benign autosomal dominant form. ...Implicated factors include spec …
Three clinically distinct forms of osteopetrosis are recognized--the infantile malignant autosomal recessive form, the …
Genetic disorders associated with the RANKL/OPG/RANK pathway.
Xue JY, Ikegawa S, Guo L. Xue JY, et al. J Bone Miner Metab. 2021 Jan;39(1):45-53. doi: 10.1007/s00774-020-01148-4. Epub 2020 Sep 17. J Bone Miner Metab. 2021. PMID: 32940787 Review.
One is caused by the mutations inducing constitutional RANK activation or OPG deficiency, which increase osteoclastogenesis and accelerate bone turnover, resulting in juvenile Paget's disease 2, Paget disease of bone 2, familial expansile osteolysis, expansile skeletal hyperphosp …
One is caused by the mutations inducing constitutional RANK activation or OPG deficiency, which increase osteoclastogenesis and accelerate b …
Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature.
Stark Z, Pangrazio A, McGillivray G, Fink AM. Stark Z, et al. Eur J Med Genet. 2013 Jan;56(1):36-8. doi: 10.1016/j.ejmg.2012.10.001. Epub 2012 Oct 17. Eur J Med Genet. 2013. PMID: 23085203 Review.
SNP microarray confirmed loss of heterozygosity in 5% of the genome, consistent with parental consanguinity. Sequencing of the genes known to cause severe recessive osteopetrosis, TCIRG1, CLCN7, OSTM1 and SNX10, was negative. Brain malformations are not typic …
SNP microarray confirmed loss of heterozygosity in 5% of the genome, consistent with parental consanguinity. Sequencing of the genes …
A clinical and molecular overview of the human osteopetroses.
Balemans W, Van Wesenbeeck L, Van Hul W. Balemans W, et al. Calcif Tissue Int. 2005 Nov;77(5):263-74. doi: 10.1007/s00223-005-0027-6. Epub 2005 Nov 16. Calcif Tissue Int. 2005. PMID: 16307387 Review.
The osteopetroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density due to a defect in osteoclastic bone resorption. In humans, several types can be distinguished and a classification has been made based on their mode of in …
The osteopetroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density due to a defect …
Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century.
Aggarwal S. Aggarwal S. Gene. 2013 Oct 1;528(1):41-5. doi: 10.1016/j.gene.2013.04.069. Epub 2013 May 5. Gene. 2013. PMID: 23657117 Review.
Osteopetrosis, which remained an enigma in the early part of its description, is now known to be genetically heterogenous. Other disorders in this group, which were initially described as variant forms of osteopetrosis, are now recognised to be distinct conditions.
Osteopetrosis, which remained an enigma in the early part of its description, is now known to be genetically heterogenous. Other diso
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J, Souza J, Santos ML, Wszolek ZK. Dulski J, et al. Orphanet J Rare Dis. 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. Orphanet J Rare Dis. 2023. PMID: 37349768 Free PMC article. Review.
CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). ...The material is heterogenous, …
CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and …
Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta.
Michou L, Brown JP. Michou L, et al. Joint Bone Spine. 2011 May;78(3):252-8. doi: 10.1016/j.jbspin.2010.07.010. Epub 2010 Sep 19. Joint Bone Spine. 2011. PMID: 20855225 Review.
Technological advances have improved the detection of somatic mutations in peripheral blood cells. Osteopetrosis is characterized by increased bone density due to deficient osteoclastic bone resorption. Most of the genes involved in the various clinical patterns of oste
Technological advances have improved the detection of somatic mutations in peripheral blood cells. Osteopetrosis is characterized by …
12 results