Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 2
1987 1
1991 2
1992 3
1993 1
1994 3
1995 1
1996 2
1997 1
1998 1
1999 1
2000 2
2001 2
2002 1
2003 2
2004 1
2005 3
2006 1
2007 1
2009 3
2010 1
2011 4
2012 5
2014 1
2015 3
2016 4
2017 2
2018 1
2019 1
2020 1
2021 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

54 results

Results by year

Filters applied: . Clear all
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.
Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (e.g. osteopoikilo …
Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications su …
Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.
Wordsworth P, Chan M. Wordsworth P, et al. Calcif Tissue Int. 2019 May;104(5):530-543. doi: 10.1007/s00223-019-00543-y. Epub 2019 Apr 15. Calcif Tissue Int. 2019. PMID: 30989250 Review.
It occasionally occurs on a background of another benign generalised sclerosing bone condition, known as osteopoikilosis caused by germline mutations in LEMD3, encoding the inner nuclear membrane protein MAN1, which modulates TGFbeta/bone morphogenetic protein signalling. …
It occasionally occurs on a background of another benign generalised sclerosing bone condition, known as osteopoikilosis caused by ge …
[Sclerosing hyperostotic bone disorders].
Kildal D, Braunschweig R, Schaal M, Mack M. Kildal D, et al. Radiologe. 2021 Dec;61(12):1096-1106. doi: 10.1007/s00117-021-00930-3. Epub 2021 Nov 4. Radiologe. 2021. PMID: 34735583 Review. German.
Melorheostosis: a Rare Sclerosing Bone Dysplasia.
Kotwal A, Clarke BL. Kotwal A, et al. Curr Osteoporos Rep. 2017 Aug;15(4):335-342. doi: 10.1007/s11914-017-0375-y. Curr Osteoporos Rep. 2017. PMID: 28676968 Review.
LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these have been more strongly correlated with other hereditary dysplasias, such as osteopoikilosis, and are not thought to be the causative gene for melorheostosis. …
LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these have been more strongly c …
[Incidental findings in musculoskeletal radiology].
Wünnemann F, Rehnitz C, Weber MA. Wünnemann F, et al. Radiologe. 2017 Apr;57(4):286-295. doi: 10.1007/s00117-017-0231-1. Radiologe. 2017. PMID: 28289785 Review. German.
MATERIAL AND METHODS: A PubMed literature search was performed using the following terms: incidental findings, population-based imaging, musculoskeletal imaging, non-ossifying fibroma, enchondroma, osteodystrophia deformans, chondrosarcoma, fibrous dysplasia, simple bone cyst, un …
MATERIAL AND METHODS: A PubMed literature search was performed using the following terms: incidental findings, population-based imaging, mus …
Human Genetics of Sclerosing Bone Disorders.
De Ridder R, Boudin E, Mortier G, Van Hul W. De Ridder R, et al. Curr Osteoporos Rep. 2018 Jun;16(3):256-268. doi: 10.1007/s11914-018-0439-7. Curr Osteoporos Rep. 2018. PMID: 29656376 Review.
Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.
Zhang Q, Mo ZH, Dong CS, Yang F, Xie YH, Jin P. Zhang Q, et al. J Endocrinol Invest. 2016 Jun;39(6):679-85. doi: 10.1007/s40618-015-0419-z. Epub 2015 Dec 22. J Endocrinol Invest. 2016. PMID: 26694706 Review.
Recent studies have reported loss-of-function mutations in the LEM domain containing 3 (LEMD3) gene, encoding an inner nuclear membrane protein, as a cause of osteopoikilosis. METHODS: We investigated LEMD3 gene in a three-generation family from China, with six patients af …
Recent studies have reported loss-of-function mutations in the LEM domain containing 3 (LEMD3) gene, encoding an inner nuclear membrane prot …
Buschke-Ollendorff syndrome: a novel case series and systematic review.
Pope V, Dupuis L, Kannu P, Mendoza-Londono R, Sajic D, So J, Yoon G, Lara-Corrales I. Pope V, et al. Br J Dermatol. 2016 Apr;174(4):723-9. doi: 10.1111/bjd.14366. Epub 2016 Mar 8. Br J Dermatol. 2016. PMID: 26708699 Review.
BOS commonly presents with nontender connective tissue naevi and sclerotic bony lesions (osteopoikilosis [OPK]). Herein, we summarize the presenting features of BOS and potential associations by conducting a systematic review of the literature and summarizing a cohort seen …
BOS commonly presents with nontender connective tissue naevi and sclerotic bony lesions (osteopoikilosis [OPK]). Herein, we summarize …
Osteopoikilosis: report of a familial case and review of the literature.
Korkmaz MF, Elli M, Özkan MB, Bilgici MC, Dağdemir A, Korkmaz M, Tosun FC. Korkmaz MF, et al. Rheumatol Int. 2015 May;35(5):921-4. doi: 10.1007/s00296-014-3160-6. Epub 2014 Oct 29. Rheumatol Int. 2015. PMID: 25352085 Review.
Osteopoikilosis (OPK) is a benign, rare, asymptomatic osteosclerotic bone dysplasia which is inherited as an autosomal dominant trait. ...
Osteopoikilosis (OPK) is a benign, rare, asymptomatic osteosclerotic bone dysplasia which is inherited as an autosomal dominant trait …
Sclerosing bone dysplasias--a target-site approach.
Greenspan A. Greenspan A. Skeletal Radiol. 1991;20(8):561-83. doi: 10.1007/BF01106087. Skeletal Radiol. 1991. PMID: 1776023 Review.
The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schonberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia (Camu …
The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schonberg disease), pycnodysostosis (Maroteaux-Lam …
54 results