HuGE Literature Finder
Records 1-12
|
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.
Bone 2016 Sep 92 196-200. Cousminer Diana L, Arkader Alexandre, Voight Benjamin F, Pacifici Maurizio, Grant Struan F |
|
Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle.
Molecular and clinical oncology 2016 Sep 5 (3): 295-299. Zhou Qin, Yang Chi, Chen Min-Jie, Li Ling-Z |
|
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
BMC genetics 2016 17 (1): 52. Ishimaru Daichi, Gotoh Masanori, Takayama Shinichiro, Kosaki Rika, Matsumoto Yoshihiro, Narimatsu Hisashi, Sato Takashi, Kimata Koji, Akiyama Haruhiko, Shimizu Katsuji, Matsumoto Ka |
|
The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.
Bone 2015 Mar 72 123-7. Sgariglia Federica, Pedrini Elena, Bradfield Jonathan P, Bhatti Tricia R, D'Adamo Pio, Dormans John P, Gunawardena Aruni T, Hakonarson Hakon, Hecht Jacqueline T, Sangiorgi Luca, Pacifici Maurizio, Enomoto-Iwamoto Motomi, Grant Struan F |
|
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.
Journal of the American Heart Association 2014 Dec 3 (6): e001274. Mooij H L, Cabrales P, Bernelot Moens S J, Xu D, Udayappan S D, Tsai A G, van der Sande M A J, de Groot E, Intaglietta M, Kastelein J J P, Dallinga-Thie G M, Esko J D, Stroes E S, Nieuwdorp |
|
Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender.
Scottish medical journal 2014 Feb 59 (1): 35-44. Clement N D, Porter D |
|
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Gene 2012 Dec . Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L |
|
Skeletal growth patterns in hereditary multiple exostoses: a natural history.
Journal of pediatric orthopedics. Part B 2012 Mar 21 (2): 150-4. Clement Nicholas David, Duckworth Andrew D, Baker Alexander D L, Porter Daniel |
|
Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors.
The Journal of bone and joint surgery. American volume 2011 Dec 93 (24): 2294-302. Pedrini Elena, Jennes Ivy, Tremosini Morena, Milanesi Annamaria, Mordenti Marina, Parra Alessandro, Sgariglia Federica, Zuntini Monia, Campanacci Laura, Fabbri Nicola, Pignotti Elettra, Wuyts Wim, Sangiorgi Lu |
|
Shoulder exostoses in hereditary multiple exostoses: probability of surgery and malignant change.
Journal of shoulder and elbow surgery / American Shoulder and Elbow Surgeons ... [et al.] 2011 Mar 20 (2): 290-4. Clement Nicholas David, Ng Che E, Porter Daniel |
|
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.
Clinical genetics 2005 Dec 68 (6): 542-7. Wuyts W, Radersma R, Storm K, Vits |
|
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.
European journal of human genetics : EJHG 2005 Apr 13 (4): 470-4. Vink Geraldine R, White Stefan J, Gabelic Strelicija, Hogendoorn Pancras C W, Breuning Martijn H, Bakker Egbe |
- Page last reviewed:Mar 16, 2019
- Page last updated:Sep 23, 2020
- Content source: