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Journal Abstract Search
288 related items for PubMed ID: 23805267
1. Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome. Clendenning M, Young JP, Walsh MD, Woodall S, Arnold J, Jenkins M, Win AK, Hopper JL, Sweet K, Gallinger S, Rosty C, Parry S, Buchanan DD. PLoS One; 2013; 8(6):e66705. PubMed ID: 23805267 [Abstract] [Full Text] [Related]
2. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. van Hattem WA, Brosens LA, de Leng WW, Morsink FH, Lens S, Carvalho R, Giardiello FM, Offerhaus GJ. Gut; 2008 May; 57(5):623-7. PubMed ID: 18178612 [Abstract] [Full Text] [Related]
3. Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. Ngeow J, Heald B, Rybicki LA, Orloff MS, Chen JL, Liu X, Yerian L, Willis J, Lehtonen HJ, Lehtonen R, Mester JL, Moline J, Burke CA, Church J, Aaltonen LA, Eng C. Gastroenterology; 2013 Jun; 144(7):1402-9, 1409.e1-5. PubMed ID: 23399955 [Abstract] [Full Text] [Related]
4. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W. J Med Genet; 2007 Nov; 44(11):702-9. PubMed ID: 17873119 [Abstract] [Full Text] [Related]
5. Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists. Mongin C, Coulet F, Lefevre JH, Colas C, Svrcek M, Eyries M, Lahely Y, Fléjou JF, Soubrier F, Parc Y. Clin Genet; 2012 Jan; 81(1):38-46. PubMed ID: 21476993 [Abstract] [Full Text] [Related]
6. Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers. Rosner G, Petel-Galil Y, Laish I, Levi Z, Kariv R, Strul H, Gilad O, Gluck N. Clin Transl Gastroenterol; 2022 Oct 01; 13(10):e00527. PubMed ID: 36049049 [Abstract] [Full Text] [Related]
7. Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients. Tanskanen T, Gylfe AE, Katainen R, Taipale M, Renkonen-Sinisalo L, Mecklin JP, Järvinen H, Tuupanen S, Kilpivaara O, Vahteristo P, Aaltonen LA. Scand J Gastroenterol; 2013 Jun 01; 48(6):672-8. PubMed ID: 23544471 [Abstract] [Full Text] [Related]
8. Identification of coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome. Yamaguchi J, Nagayama S, Chino A, Sakata A, Yamamoto N, Sato Y, Ashihara Y, Kita M, Nomura S, Ishikawa Y, Igarashi M, Ueno M, Arai M. Jpn J Clin Oncol; 2014 Oct 01; 44(10):1004-8. PubMed ID: 25129392 [Abstract] [Full Text] [Related]
9. Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4/BMPR1A Variant. MacFarland SP, Ebrahimzadeh JE, Zelley K, Begum L, Bass LM, Brand RE, Dudley B, Fishman DS, Ganzak A, Karloski E, Latham A, Llor X, Plon S, Riordan MK, Scollon SR, Stadler ZK, Syngal S, Ukaegbu C, Weiss JM, Yurgelun MB, Brodeur GM, Mamula P, Katona BW. Cancer Prev Res (Phila); 2021 Feb 01; 14(2):215-222. PubMed ID: 33097490 [Abstract] [Full Text] [Related]
10. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. Sweet K, Willis J, Zhou XP, Gallione C, Sawada T, Alhopuro P, Khoo SK, Patocs A, Martin C, Bridgeman S, Heinz J, Pilarski R, Lehtonen R, Prior TW, Frebourg T, Teh BT, Marchuk DA, Aaltonen LA, Eng C. JAMA; 2005 Nov 16; 294(19):2465-73. PubMed ID: 16287957 [Abstract] [Full Text] [Related]
11. Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome. Cheah PY, Wong YH, Chau YP, Loi C, Lim KH, Lim JF, Koh PK, Eu KW. Am J Gastroenterol; 2009 Dec 16; 104(12):3027-33. PubMed ID: 19773747 [Abstract] [Full Text] [Related]
12. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR. Clin Genet; 2009 Jan 16; 75(1):79-85. PubMed ID: 18823382 [Abstract] [Full Text] [Related]
13. Germline variant testing in serrated polyposis syndrome. Murphy A, Solomons J, Risby P, Gabriel J, Bedenham T, Johnson M, Atkinson N, Bailey AA, Bird-Lieberman E, Leedham SJ, East JE, Biswas S. J Gastroenterol Hepatol; 2022 May 16; 37(5):861-869. PubMed ID: 35128723 [Abstract] [Full Text] [Related]
14. Genotype-defined cancer risk in juvenile polyposis syndrome. Aytac E, Sulu B, Heald B, O'Malley M, LaGuardia L, Remzi FH, Kalady MF, Burke CA, Church JM. Br J Surg; 2015 Jan 16; 102(1):114-8. PubMed ID: 25389115 [Abstract] [Full Text] [Related]
15. A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome. Miyahara Y, Ishida H, Kawabe K, Eto H, Kasai T, Ito T, Kaneko K, Arai M, Kamae N, Momose S, Eguchi H, Okazaki Y. Jpn J Clin Oncol; 2020 Jul 09; 50(7):826-829. PubMed ID: 32378721 [Abstract] [Full Text] [Related]
16. Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report. Liu Q, Liu M, Liu T, Yu Y. BMC Med Genet; 2020 Oct 08; 21(1):196. PubMed ID: 33032550 [Abstract] [Full Text] [Related]
17. Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil. Pitroski CE, Cossio SL, Koehler-Santos P, Graudenz M, Prolla JC, Ashton-Prolla P. Int J Colorectal Dis; 2011 Jul 08; 26(7):841-6. PubMed ID: 21424714 [Abstract] [Full Text] [Related]
19. Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps. Jelsig AM, Brusgaard K, Hansen TP, Qvist N, Larsen M, Bojesen A, Nielsen CB, Ousager LB. Scand J Gastroenterol; 2016 Sep 08; 51(9):1118-25. PubMed ID: 27146957 [Abstract] [Full Text] [Related]
20. Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ. Am J Gastroenterol; 2022 Jun 01; 117(6):846-864. PubMed ID: 35471415 [Abstract] [Full Text] [Related] Page: [Next] [New Search]