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Journal Abstract Search

160 related items for PubMed ID: 31243857

  • 1. Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.
    Terradas M, Munoz-Torres PM, Belhadj S, Aiza G, Navarro M, Brunet J, Capellá G, Valle L.
    Hum Mutat; 2019 Nov; 40(11):1910-1923. PubMed ID: 31243857
    [Abstract] [Full Text] [Related]

  • 2. NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.
    Belhadj S, Quintana I, Mur P, Munoz-Torres PM, Alonso MH, Navarro M, Terradas M, Piñol V, Brunet J, Moreno V, Lázaro C, Capellá G, Valle L.
    Sci Rep; 2019 Jun 21; 9(1):9020. PubMed ID: 31227763
    [Abstract] [Full Text] [Related]

  • 3. Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.
    Salo-Mullen EE, Maio A, Mukherjee S, Bandlamudi C, Shia J, Kemel Y, Cadoo KA, Liu Y, Carlo M, Ranganathan M, Kane S, Srinivasan P, Chavan SS, Donoghue MTA, Bourque C, Sheehan M, Tejada PR, Patel Z, Arnold AG, Kennedy JA, Amoroso K, Breen K, Catchings A, Sacca R, Marcell V, Markowitz AJ, Latham A, Walsh M, Misyura M, Ceyhan-Birsoy O, Solit DB, Berger MF, Robson ME, Taylor BS, Offit K, Mandelker D, Stadler ZK.
    JCO Precis Oncol; 2021 Jun 21; 5():. PubMed ID: 34250384
    [Abstract] [Full Text] [Related]

  • 4. NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?
    Weren RD, Ligtenberg MJ, Geurts van Kessel A, De Voer RM, Hoogerbrugge N, Kuiper RP.
    J Pathol; 2018 Feb 21; 244(2):135-142. PubMed ID: 29105096
    [Abstract] [Full Text] [Related]

  • 5. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
    Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmüller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nöthen MM, Büttner R, Möslein G, Betz RC, Brieger A, Lifton RP, Aretz S.
    Am J Hum Genet; 2016 Aug 04; 99(2):337-51. PubMed ID: 27476653
    [Abstract] [Full Text] [Related]

  • 6. Update on genetic predisposition to colorectal cancer and polyposis.
    Valle L, de Voer RM, Goldberg Y, Sjursen W, Försti A, Ruiz-Ponte C, Caldés T, Garré P, Olsen MF, Nordling M, Castellvi-Bel S, Hemminki K.
    Mol Aspects Med; 2019 Oct 04; 69():10-26. PubMed ID: 30862463
    [Abstract] [Full Text] [Related]

  • 7. Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
    Khan N, Lipsa A, Arunachal G, Ramadwar M, Sarin R.
    Sci Rep; 2017 May 22; 7(1):2214. PubMed ID: 28533537
    [Abstract] [Full Text] [Related]

  • 8. NTHL1-associate polyposis: first Australian case report.
    Groves A, Gleeson M, Spigelman AD.
    Fam Cancer; 2019 Apr 22; 18(2):179-182. PubMed ID: 30859360
    [Abstract] [Full Text] [Related]

  • 9. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
    Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N.
    Nat Genet; 2015 Jun 22; 47(6):668-71. PubMed ID: 25938944
    [Abstract] [Full Text] [Related]

  • 10. Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
    Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S.
    Clin Genet; 2021 May 22; 99(5):662-672. PubMed ID: 33454955
    [Abstract] [Full Text] [Related]

  • 11. The role of inherited genetic variants in colorectal polyposis syndromes.
    Short E, Sampson J.
    Adv Genet; 2019 May 22; 103():183-217. PubMed ID: 30904095
    [Abstract] [Full Text] [Related]

  • 12. NTHL1 Gene Mutations in Polish Polyposis Patients-Weighty Player or Vague Background?
    Grot N, Kaczmarek-Ryś M, Lis-Tanaś E, Kryszczyńska A, Nowakowska D, Jakubiuk-Tomaszuk A, Paszkowski J, Banasiewicz T, Hryhorowicz S, Pławski A.
    Int J Mol Sci; 2023 Sep 26; 24(19):. PubMed ID: 37834005
    [Abstract] [Full Text] [Related]

  • 13. Extending the clinical phenotype associated with biallelic NTHL1 germline mutations.
    Fostira F, Kontopodis E, Apostolou P, Fragkaki M, Androulakis N, Yannoukakos D, Konstantopoulou I, Saloustros E.
    Clin Genet; 2018 Dec 26; 94(6):588-589. PubMed ID: 30248171
    [No Abstract] [Full Text] [Related]

  • 14. MSH3: a confirmed predisposing gene for adenomatous polyposis.
    Villy MC, Masliah-Planchon J, Schnitzler A, Delhomelle H, Buecher B, Filser M, Merchadou K, Golmard L, Melaabi S, Vacher S, Blanluet M, Suybeng V, Corsini C, Dhooge M, Hamzaoui N, Farelly S, Ait Omar A, Benamouzig R, Caumette V, Bahuau M, Cucherousset J, Allory Y, Stoppa-Lyonnet D, Bieche I, Colas C.
    J Med Genet; 2023 Nov 27; 60(12):1198-1205. PubMed ID: 37402566
    [Abstract] [Full Text] [Related]

  • 15. Defective repair capacity of variant proteins of the DNA glycosylase NTHL1 for 5-hydroxyuracil, an oxidation product of cytosine.
    Shinmura K, Kato H, Kawanishi Y, Goto M, Tao H, Yoshimura K, Nakamura S, Misawa K, Sugimura H.
    Free Radic Biol Med; 2019 Feb 01; 131():264-273. PubMed ID: 30552997
    [Abstract] [Full Text] [Related]

  • 16. Six case reports of NTHL1-associated tumor syndrome further support it as a multi-tumor predisposition syndrome.
    Weatherill CB, Burke SA, Haskins CG, Berry DK, Homer JP, Demeure MJ, Darabi S.
    Clin Genet; 2023 Feb 01; 103(2):231-235. PubMed ID: 36196035
    [Abstract] [Full Text] [Related]

  • 17. Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.
    Lorca V, Rueda D, Martín-Morales L, Fernández-Aceñero MJ, Grolleman J, Poves C, Llovet P, Tapial S, García-Barberán V, Sanz J, Pérez-Segura P, de Voer RM, Díaz-Rubio E, de la Hoya M, Caldés T, Garre P.
    Sci Rep; 2019 Jul 08; 9(1):9814. PubMed ID: 31285513
    [Abstract] [Full Text] [Related]

  • 18. Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.
    Broderick P, Dobbins SE, Chubb D, Kinnersley B, Dunlop MG, Tomlinson I, Houlston RS.
    Gastroenterology; 2017 Jan 08; 152(1):75-77.e4. PubMed ID: 27713038
    [Abstract] [Full Text] [Related]

  • 19. A Case of Multiple Adenomatous Colon Polyps and Meningiomas.
    Liu K, Kupfer SS, Jain R.
    Gastroenterology; 2021 Sep 08; 161(3):811-813. PubMed ID: 33417938
    [No Abstract] [Full Text] [Related]

  • 20. MSH3-related adenomatous polyposis in a patient with the negative family history of colorectal polyps.
    Gavric A, Krajc M, Strnisa L, Gavric AU, Plut S.
    Gastroenterol Hepatol; 2024 Apr 08; 47(4):397-400. PubMed ID: 37597744
    [Abstract] [Full Text] [Related]

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