Results 131 to 140 of about 1,537,452 (154)

MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence. [PDF]

Fam Cancer
Shia J, Sanchez-Vega F, Cho S, Chen JF, Chen CT, Bhanot U, Urganci N, Firat C, Ntiamoah P, Isidro RA, Srivastava A, Weiser MR, Mandelker D, Vakiani E, Boland CR, Garcia-Aguilar J, Stadler ZK.   +16 more
europepmc   +1 more source

Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency. [PDF]

Cold Spring Harb Mol Case Stud, 2019
Lindsay H, Scollon S, Reuther J, Voicu H, Rednam SP, Lin FY, Fisher KE, Chintagumpala M, Adesina AM, Parsons DW, Plon SE, Roy A.   +11 more
europepmc   +1 more source

Lynch syndrome-associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndrome. [PDF]

Cold Spring Harb Mol Case Stud, 2019
Yang C, Austin F, Richard H, Idowu M, Williamson V, Sabato F, Ferreira-Gonzalez A, Turner SA.   +7 more
europepmc   +1 more source

Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies. [PDF]

Oncotarget, 2018
Abedalthagafi M.
europepmc   +1 more source