Results 111 to 120 of about 1,735 (162)

The Missing Piece of the Puzzle: Unveiling the Role of <i>PTPN11</i> Gene in Multiple Osteochondromas in a Large Cohort Study. [PDF]

Hum Mutat
Borovikov A, Galeeva N, Marakhonov A, Murtazina A, Kadnikova V, Davydenko K, Orlova A, Sparber P, Markova T, Orlova M, Osipova D, Nagornova T, Semenova N, Levchenko O, Filatova A, Sharova M, Vasiluev P, Kanivets I, Pyankov D, Sharkov A, Udalova V, Kenis V, Nikitina N, Sumina M, Zherdev K, Petel'guzov A, Chelpachenko O, Zubkov P, Dan I, Snetkov A, Akinshina A, Buklemishev Y, Ryzhkova O, Tabakov V, Zakharova E, Korostelev S, Zinchenko R, Skoblov M, Polyakov A, Dadali E, Kutsev S, Shchagina O.   +41 more
europepmc   +1 more source

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

Sarcomatous Transformation of Recurrent Scapular Osteochondroma in a Patient with the Hereditary Multiple Osteochondromas: A Case Report and Literature Review. [PDF]

Cureus, 2019
Sajid S, Yousaf A, Nabi U, Shahbaz A, Amin U.   +4 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