Results 111 to 120 of about 1,671 (162)

A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas. [PDF]

Oncol Lett, 2018
Chen Z, Bi Q, Kong M, Cao L, Ruan W.
europepmc   +1 more source

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. [PDF]

Mol Genet Genomic Med, 2018
Santos SCL, Rizzo IMPO, Takata RI, Speck-Martins CE, Brum JM, Sollaci C.   +5 more
europepmc   +1 more source

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. [PDF]

Medicine (Baltimore), 2018
Li Y, Wang J, Tang J, Wang Z, Han B, Li N, Yu T, Chen Y, Fu Q.   +8 more
europepmc   +1 more source

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. [PDF]

Mol Genet Genomic Med, 2019
Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW.   +12 more
europepmc   +1 more source

Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: a systematic review. [PDF]

SICOT J, 2018
El-Sobky TA, Samir S, Atiyya AN, Mahmoud S, Aly AS, Soliman R.   +5 more
europepmc   +1 more source

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas. [PDF]

Ther Clin Risk Manag, 2017
Akbaroghli S, Balali M, Kamalidehghan B, Saber S, Aryani O, Meng GY, Houshmand M.   +6 more
europepmc   +1 more source

Novel mutation of EXT2 identified in a large family with multiple osteochondromas. [PDF]

Mol Med Rep, 2016
Chen XJ, Zhang H, Tan ZP, Hu W, Yang YF.
europepmc   +1 more source