BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 23474566)

  • 1. Low penetrance pancreatitis phenotype in a Venezuelan kindred with a PRSS1 R122H mutation.
    Solomon S; Gelrud A; Whitcomb DC
    JOP; 2013 Mar; 14(2):187-9. PubMed ID: 23474566
    [TBL] [Abstract][Full Text] [Related]  

  • 2. PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype.
    Avanthi US; Bale G; Aslam M; Talukdar R; Duvvur NR; Vishnubhotla RV
    Indian J Gastroenterol; 2018 Jan; 37(1):67-69. PubMed ID: 29476405
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site.
    Felderbauer P; Schnekenburger J; Lebert R; Bulut K; Parry M; Meister T; Schick V; Schmitz F; Domschke W; Schmidt WE
    J Med Genet; 2008 Aug; 45(8):507-12. PubMed ID: 18511571
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.
    Grocock CJ; Rebours V; Delhaye MN; Andrén-Sandberg A; Weiss FU; Mountford R; Harcus MJ; Niemczyck E; Vitone LJ; Dodd S; Jørgensen MT; Ammann RW; Schaffalitzky de Muckadell O; Butler JV; Burgess P; Kerr B; Charnley R; Sutton R; Raraty MG; Devière J; Whitcomb DC; Neoptolemos JP; Lévy P; Lerch MM; Greenhalf W;
    Gut; 2010 Mar; 59(3):357-63. PubMed ID: 19951905
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.
    Szmola R; Sahin-Tóth M
    J Med Genet; 2010 May; 47(5):348-50. PubMed ID: 20452997
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families.
    de las Heras-Castaño G; Castro-Senosiaín B; Fontalba A; López-Hoyos M; Sánchez-Juán P
    JOP; 2009 May; 10(3):249-55. PubMed ID: 19454815
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Three cases of hereditary pancreatitis in two households in the same family associated with R122H mutation in cationic trypsinogen gene].
    Lee TY; Oh HC; Kim MH; Kwon S; Lee SS; Seo DW; Lee SK
    Korean J Gastroenterol; 2007 Jun; 49(6):395-9. PubMed ID: 17641559
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance.
    Khalid A; Finkelstein S; Thompson B; Kelly L; Hanck C; Godfrey TE; Whitcomb DC
    Gut; 2006 May; 55(5):728-31. PubMed ID: 16354799
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening for human cationic trypsinogen (PRSS1) and trypsinogen inhibitor gene (SPINK1) mutations in a Finnish family with hereditary pancreatitis.
    Räty S; Piironen A; Babu M; Pelli H; Sand J; Uotila S; Nordback I; Herzig KH
    Scand J Gastroenterol; 2007 Aug; 42(8):1000-5. PubMed ID: 17613931
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The natural history of hereditary pancreatitis: a national series.
    Rebours V; Boutron-Ruault MC; Schnee M; Férec C; Le Maréchal C; Hentic O; Maire F; Hammel P; Ruszniewski P; Lévy P
    Gut; 2009 Jan; 58(1):97-103. PubMed ID: 18755888
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic mutations in a Spanish population with chronic pancreatitis.
    Mora J; Comas L; Ripoll E; Gonçalves P; Queraltó JM; González-Sastre F; Farré A
    Pancreatology; 2009; 9(5):644-51. PubMed ID: 19657220
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Dutch patients with hereditary pancreatitis; high mutation frequency, relatively little pain].
    Derikx MH; te Morsche RH; Jansen JB; Drenth JP
    Ned Tijdschr Geneeskd; 2009; 153():A324. PubMed ID: 19857283
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cationic trypsinogen mutations and pancreatitis.
    Howes N; Greenhalf W; Stocken DD; Neoptolemos JP
    Gastroenterol Clin North Am; 2004 Dec; 33(4):767-87. PubMed ID: 15528017
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.
    Pfützer R; Myers E; Applebaum-Shapiro S; Finch R; Ellis I; Neoptolemos J; Kant JA; Whitcomb DC
    Gut; 2002 Feb; 50(2):271-2. PubMed ID: 11788572
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Hereditary pancreatitis].
    Lee SK
    Korean J Gastroenterol; 2005 Nov; 46(5):358-67. PubMed ID: 16301849
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.
    Rygiel AM; Beer S; Simon P; Wertheim-Tysarowska K; Oracz G; Kucharzik T; Tysarowski A; Niepokój K; Kierkus J; Jurek M; Gawliński P; Poznański J; Bal J; Lerch MM; Sahin-Tóth M; Weiss FU
    Hum Mutat; 2015 Mar; 36(3):350-6. PubMed ID: 25546417
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis.
    Liu QC; Gao F; Ou QS; Zhuang ZH; Lin SR; Yang B; Cheng ZJ
    Chin Med J (Engl); 2008 Jan; 121(2):108-11. PubMed ID: 18272034
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis.
    Sánchez-Ramírez CA; Flores-Martínez SE; García-Zapién AG; Montero-Cruz SA; Larrosa-Haro A; Sánchez-Corona J
    Pancreas; 2012 Jul; 41(5):707-11. PubMed ID: 22699143
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An overview of hereditary pancreatitis.
    Rebours V; Lévy P; Ruszniewski P
    Dig Liver Dis; 2012 Jan; 44(1):8-15. PubMed ID: 21907651
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pedigree of a kindred with Transheterozygous PRSS1 R122C and SPINK1 N34S mutations.
    Sinha A; Cotsalas D; Akshintala VS; Afghani E; Singh VK
    Pancreas; 2014 Aug; 43(6):974-6. PubMed ID: 25010710
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.