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2. Histologic variations in juvenile polyp phenotype correlate with genetic defect underlying juvenile polyposis. van Hattem WA; Langeveld D; de Leng WW; Morsink FH; van Diest PJ; Iacobuzio-Donahue CA; Giardiello FM; Offerhaus GJ; Brosens LA Am J Surg Pathol; 2011 Apr; 35(4):530-6. PubMed ID: 21412070 [TBL] [Abstract][Full Text] [Related]
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5. Cyclooxygenase-2 expression in polyps from a patient with juvenile polyposis syndrome with mutant BMPR1A. Kurland JE; Beck SE; Solomon CJ; Brann OS; Carethers JM; Huang SC J Pediatr Gastroenterol Nutr; 2007 Mar; 44(3):318-25. PubMed ID: 17325551 [TBL] [Abstract][Full Text] [Related]
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8. A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene? Chow E; Lipton L; Carvajal-Carmona LG; Arthur G; Bhathal P; Kaur G; Jaeger E; Woodford-Richens K; Howarth K; Tomlinson I; Macrae F J Gastroenterol Hepatol; 2007 Dec; 22(12):2292-7. PubMed ID: 17573831 [TBL] [Abstract][Full Text] [Related]
9. 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; 21(1):196. PubMed ID: 33032550 [TBL] [Abstract][Full Text] [Related]
10. Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study. Jelsig AM; van Overeem Hansen T; Gede LB; Qvist N; Christensen LL; Lautrup CK; Ljungmann K; Christensen LT; Rønlund K; Tørring PM; Bertelsen B; Sunde L; Karstensen JG Fam Cancer; 2023 Oct; 22(4):429-436. PubMed ID: 37354305 [TBL] [Abstract][Full Text] [Related]
11. 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 [TBL] [Abstract][Full Text] [Related]
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13. Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium. Woodford-Richens K; Williamson J; Bevan S; Young J; Leggett B; Frayling I; Thway Y; Hodgson S; Kim JC; Iwama T; Novelli M; Sheer D; Poulsom R; Wright N; Houlston R; Tomlinson I Cancer Res; 2000 May; 60(9):2477-82. PubMed ID: 10811127 [TBL] [Abstract][Full Text] [Related]
14. Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Woodford-Richens K; Bevan S; Churchman M; Dowling B; Jones D; Norbury CG; Hodgson SV; Desai D; Neale K; Phillips RK; Young J; Leggett B; Dunlop M; Rozen P; Eng C; Markie D; Rodriguez-Bigas MA; Sheridan E; Iwama T; Eccles D; Smith GT; Kim JC; Kim KM; Sampson JR; Evans G; Tejpar S; Bodmer WF; Tomlinson IP; Houlston RS Gut; 2000 May; 46(5):656-60. PubMed ID: 10764709 [TBL] [Abstract][Full Text] [Related]
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