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
2008 1
2010 1
2012 1
2014 1
2015 1
2016 1
2021 2
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
Multiple osteochondromas.
Bovée JV. Bovée JV. Orphanet J Rare Dis. 2008 Feb 13;3:3. doi: 10.1186/1750-1172-3-3. Orphanet J Rare Dis. 2008. PMID: 18271966 Free PMC article. Review.
If the exact mutation is known antenatal diagnosis is technically possible. MO should be distinguished from metachondromatosis, dysplasia epiphysealis hemimelica and Ollier disease. ...
If the exact mutation is known antenatal diagnosis is technically possible. MO should be distinguished from metachondromatosis, dyspl …
SHP2 sails from physiology to pathology.
Tajan M, de Rocca Serra A, Valet P, Edouard T, Yart A. Tajan M, et al. Eur J Med Genet. 2015 Oct;58(10):509-25. doi: 10.1016/j.ejmg.2015.08.005. Epub 2015 Sep 2. Eur J Med Genet. 2015. PMID: 26341048 Review.
Over the two past decades, mutations of the PTPN11 gene, encoding the ubiquitous protein tyrosine phosphatase SHP2 (SH2 domain-containing tyrosine phosphatase 2), have been identified as the causal factor of several developmental diseases (Noonan syndrome (NS), Noonan syndrome wi …
Over the two past decades, mutations of the PTPN11 gene, encoding the ubiquitous protein tyrosine phosphatase SHP2 (SH2 domain-containing ty …
Update on the imaging features of the enchondromatosis syndromes.
Sharif B, Lindsay D, Saifuddin A. Sharif B, et al. Skeletal Radiol. 2022 Apr;51(4):747-762. doi: 10.1007/s00256-021-03870-0. Epub 2021 Jul 24. Skeletal Radiol. 2022. PMID: 34302201 Review.
Given the lifelong risk of malignancy, imaging follow-up will also be explored. Metachondromatosis, a rare enchondromatosis subtype characterised by enchondromas and exostoses, will also be briefly outlined....
Given the lifelong risk of malignancy, imaging follow-up will also be explored. Metachondromatosis, a rare enchondromatosis subtype c …
Enchondromatosis: insights on the different subtypes.
Pansuriya TC, Kroon HM, Bovée JV. Pansuriya TC, et al. Int J Clin Exp Pathol. 2010 Jun 26;3(6):557-69. Int J Clin Exp Pathol. 2010. PMID: 20661403 Free PMC article. Review.
Enchondromatosis encompasses several different subtypes of which Ollier disease and Maffucci syndrome are most common, while the other subtypes (metachondromatosis, genochondromatosis, spondyloenchondrodysplasia, dysspondyloenchondromatosis and cheirospondyloenchondromatos …
Enchondromatosis encompasses several different subtypes of which Ollier disease and Maffucci syndrome are most common, while the other subty …
Enchondromatosis revisited: new classification with molecular basis.
Superti-Furga A, Spranger J, Nishimura G. Superti-Furga A, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):154-64. doi: 10.1002/ajmg.c.31331. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791316 Review.
Some, like Ollier disease, Maffucci disease, metaphyseal chondromatosis with hydroxyglutaric aciduria, and metachondromatosis are produced by a dysregulation of chondrocyte proliferation, while others (such as spondyloenchondrodysplasia or dysspondyloenchondromatosis) are …
Some, like Ollier disease, Maffucci disease, metaphyseal chondromatosis with hydroxyglutaric aciduria, and metachondromatosis are pro …
Regulation of bone and skeletal development by the SHP-2 protein tyrosine phosphatase.
Kamiya N, Kim HK, King PD. Kamiya N, et al. Bone. 2014 Dec;69:55-60. doi: 10.1016/j.bone.2014.08.015. Epub 2014 Aug 30. Bone. 2014. PMID: 25178522 Review.
In addition, combined somatic and germline PTPN11 mutations have been shown to be responsible for a rare benign bone cartilaginous tumor disease known as metachondromatosis. In parallel, gene targeting studies performed in mice have revealed an essential role for SHP-2 as …
In addition, combined somatic and germline PTPN11 mutations have been shown to be responsible for a rare benign bone cartilaginous tumor dis …
[The Biological Function of SHP2 in Human Disease].
Li SM. Li SM. Mol Biol (Mosk). 2016 Jan-Feb;50(1):27-33. doi: 10.7868/S0026898416010110. Mol Biol (Mosk). 2016. PMID: 27028808 Free article. Review. Russian.
Germline mutations in PTPN11 cause the Noonan Syndrome, LEOPARD syndrome and metachondromatosis. Somatic PTPN11 mutations occur in hematologic malignancies and in solid tumors. ...
Germline mutations in PTPN11 cause the Noonan Syndrome, LEOPARD syndrome and metachondromatosis. Somatic PTPN11 mutations occur in he …