• 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

    First evidence of genotype-phenotype correlations in Gorlin syndrome.

    • CSV
    • RefMan
    • EndNote
    • BibTex
    • RefWorks
    Authors
    Evans, D
    Oudit, Deemesh
    Smith, M
    Rutkowski, D
    Allan, Ernest
    Newman, W
    Lear, J
    Affiliation
    Division of Evolution and Genomic Science, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester
    Issue Date
    2017-06-08
    
    Metadata
    Show full item record
    Abstract
    Gorlin syndrome (GS) is an autosomal dominant syndrome characterised by multiple basal cell carcinomas (BCCs) and an increased risk of jaw cysts and early childhood medulloblastoma. Heterozygous germline variants in PTCH1 and SUFU encoding components of the Sonic hedgehog pathway explain the majority of cases. Here, we aimed to delineate genotype-phenotype correlations in GS.
    Citation
    First evidence of genotype-phenotype correlations in Gorlin syndrome. 2017 J Med Genet
    Journal
    Journal of Medical Genetics
    URI
    http://hdl.handle.net/10541/620443
    DOI
    10.1136/jmedgenet-2017-104669
    PubMed ID
    28596197
    Type
    Article
    Language
    en
    ISSN
    1468-6244
    ae974a485f413a2113503eed53cd6c53
    10.1136/jmedgenet-2017-104669
    Scopus Count
    Collections
    All Christie Publications

    entitlement

    Related articles

    • Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
    • Authors: Smith MJ, Beetz C, Williams SG, Bhaskar SS, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG
    • Issue date: 2014 Dec 20
    • Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.
    • Authors: Gershanov S, Toledano H, Pernicone N, Fichman S, Michowiz S, Pinhasov A, Goldenberg-Cohen N, Listovsky T, Salmon-Divon M
    • Issue date: 2021 May-Jun
    • Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review.
    • Authors: Lee SG, Evans G, Stephen M, Goren R, Bondy M, Goodman S
    • Issue date: 2024 Jun
    • Identification of a SUFU germline mutation in a family with Gorlin syndrome.
    • Authors: Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Scarrà GB
    • Issue date: 2009 Jul
    • Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same.
    • Authors: Huq AJ, Walsh M, Rajagopalan B, Finlay M, Trainer AH, Bonnet F, Sevenet N, Winship IM
    • Issue date: 2018 Oct
    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.