• Login
    View Item 
    •   Home
    • The Christie Research Publications Repository
    • All Christie Publications
    • View Item
    •   Home
    • The Christie Research Publications Repository
    • All Christie Publications
    • View Item
    JavaScript is disabled for your browser. Some features of this site may not work without it.

    Browse

    All of ChristieCommunitiesTitleAuthorsIssue DateSubmit DateSubjectsThis CollectionTitleAuthorsIssue DateSubmit DateSubjectsProfilesView

    My Account

    LoginRegister

    Local Links

    The Christie WebsiteChristie Library and Knowledge Service

    Statistics

    Display statistics

    Recurrent posterior fossa Group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD)

    • CSV
    • RefMan
    • EndNote
    • BibTex
    • RefWorks
    Authors
    Briggs, M.
    Das, A.
    Firth, H.
    Levine, A.
    Sánchez-Ramírez, S.
    Negm, L.
    Ercan, A. B.
    Chung, J.
    Bianchi, V.
    Jalloh, I.
    Phyu, P.
    Thorp, Nicky
    Grundy, R. G.
    Hawkins, C.
    Trotman, J.
    Tarpey, P.
    Tabori, U.
    Allinson, K.
    Murray, M. J.
    Show allShow less
    Affiliation
    Department of Neuropathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, UK
    Issue Date
    2022
    
    Metadata
    Show full item record
    Citation
    Briggs M, Das A, Firth H, Levine A, Sánchez-Ramírez S, Negm L, et al. Recurrent posterior fossa Group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD). Neuropathology and applied neurobiology. 2022 Nov 7:e12862. PubMed PMID: 36341503. Epub 2022/11/08. eng.
    Journal
    Neuropathology and Applied Neurobiology
    URI
    http://hdl.handle.net/10541/625761
    DOI
    10.1111/nan.12862
    PubMed ID
    36341503
    Additional Links
    https://dx.doi.org/10.1111/nan.12862
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1111/nan.12862
    Scopus Count
    Collections
    All Christie Publications

    entitlement

    Related articles

    • Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD).
    • Authors: Ramchander NC, Ryan NA, Crosbie EJ, Evans DG
    • Issue date: 2017 Apr 5
    • Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
    • Authors: van der Klift HM, Mensenkamp AR, Drost M, Bik EC, Vos YJ, Gille HJ, Redeker BE, Tiersma Y, Zonneveld JB, García EG, Letteboer TG, Olderode-Berends MJ, van Hest LP, van Os TA, Verhoef S, Wagner A, van Asperen CJ, Ten Broeke SW, Hes FJ, de Wind N, Nielsen M, Devilee P, Ligtenberg MJ, Wijnen JT, Tops CM
    • Issue date: 2016 Nov
    • Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.
    • Authors: Shuen AY, Lanni S, Panigrahi GB, Edwards M, Yu L, Campbell BB, Mandel A, Zhang C, Zhukova N, Alharbi M, Bernstein M, Bowers DC, Carroll S, Cole KA, Constantini S, Crooks B, Dvir R, Farah R, Hijiya N, George B, Laetsch TW, Larouche V, Lindhorst S, Luiten RC, Magimairajan V, Mason G, Mason W, Mordechai O, Mushtaq N, Nicholas G, Oren M, Palma L, Pedroza LA, Ramdas J, Samuel D, Wolfe Schneider K, Seeley A, Semotiuk K, Shamvil A, Sumerauer D, Toledano H, Tomboc P, Wierman M, Van Damme A, Lee YY, Zapotocky M, Bouffet E, Durno C, Aronson M, Gallinger S, Foulkes WD, Malkin D, Tabori U, Pearson CE
    • Issue date: 2019 Feb 20
    • Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.
    • Authors: Mork ME, Borras E, Taggart MW, Cuddy A, Bannon SA, You YN, Lynch PM, Ramirez PT, Rodriguez-Bigas MA, Vilar E
    • Issue date: 2016 Oct
    • Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.
    • Authors: Toledano H, Orenstein N, Sofrin E, Ruhrman-Shahar N, Amarilyo G, Basel-Salmon L, Shuldiner AR, Smirin-Yosef P, Aronson M, Al-Tarrah H, Bazak L, Gonzaga-Jauregui C, Tabori U, Wimmer K, Goldberg Y
    • Issue date: 2020 Jul
    DSpace software (copyright © 2002 - 2025)  DuraSpace
    Quick Guide | Contact Us
    Open Repository is a service operated by 
    Atmire NV
     

    Export search results

    The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

    By default, clicking on the export buttons will result in a download of the allowed maximum amount of items.

    To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

    After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.