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Journal Abstract Search

442 related items for PubMed ID: 25403219

  • 1. Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
    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.
    J Clin Oncol; 2014 Dec 20; 32(36):4155-61. PubMed ID: 25403219
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  • 2. First evidence of genotype-phenotype correlations in Gorlin syndrome.
    Evans DG, Oudit D, Smith MJ, Rutkowski D, Allan E, Newman WG, Lear JT.
    J Med Genet; 2017 Aug 20; 54(8):530-536. PubMed ID: 28596197
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  • 4. Identification of a SUFU germline mutation in a family with Gorlin syndrome.
    Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Scarrà GB.
    Am J Med Genet A; 2009 Jul 20; 149A(7):1539-43. PubMed ID: 19533801
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  • 7. A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.
    Durmaz CD, Evans G, Smith MJ, Ertop P, Akay BN, Tuncalı T.
    Cytogenet Genome Res; 2018 Jul 20; 154(2):57-61. PubMed ID: 29544218
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  • 9. Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.
    Onodera S, Saito A, Hasegawa D, Morita N, Watanabe K, Nomura T, Shibahara T, Ohba S, Yamaguchi A, Azuma T.
    PLoS One; 2017 Jul 20; 12(9):e0184702. PubMed ID: 28915250
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  • 11. Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same.
    Huq AJ, Walsh M, Rajagopalan B, Finlay M, Trainer AH, Bonnet F, Sevenet N, Winship IM.
    Fam Cancer; 2018 Oct 20; 17(4):601-606. PubMed ID: 29356994
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  • 12. [Identification of a Family with SUFU Germline Deletion Based on a Case of Desmoplastic Medulloblastoma in an Infant].
    Šoukalová J, Vejmělková K, Cermanová T, Kašíková K, Mikulášová A, Janyšková H, Melichárková K, Pavelka Z, Ježová M, Pospíšilová Š, Kuglík P, Valášková I, Gaillyová R, Štěrba J, Zitterbart K.
    Klin Onkol; 2016 Oct 20; 29 Suppl 1():S83-8. PubMed ID: 26691947
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  • 14. Intronic splicing mutations in PTCH1 cause Gorlin syndrome.
    Bholah Z, Smith MJ, Byers HJ, Miles EK, Evans DG, Newman WG.
    Fam Cancer; 2014 Sep 20; 13(3):477-80. PubMed ID: 24659465
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  • 15. Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review.
    Lee SG, Evans G, Stephen M, Goren R, Bondy M, Goodman S.
    Am J Med Genet A; 2024 Jun 20; 194(6):e63496. PubMed ID: 38282294
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  • 16. Retrospective family study of childhood medulloblastoma.
    Ng D, Stavrou T, Liu L, Taylor MD, Gold B, Dean M, Kelley MJ, Dubovsky EC, Vezina G, Nicholson HS, Byrne J, Rutka JT, Hogg D, Reaman GH, Goldstein AM.
    Am J Med Genet A; 2005 May 01; 134(4):399-403. PubMed ID: 15759260
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  • 17. Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
    Guerrini-Rousseau L, Dufour C, Varlet P, Masliah-Planchon J, Bourdeaut F, Guillaud-Bataille M, Abbas R, Bertozzi AI, Fouyssac F, Huybrechts S, Puget S, Bressac-De Paillerets B, Caron O, Sevenet N, Dimaria M, Villebasse S, Delattre O, Valteau-Couanet D, Grill J, Brugières L.
    Neuro Oncol; 2018 Jul 05; 20(8):1122-1132. PubMed ID: 29186568
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