184 related articles for article (PubMed ID: 31561016)
21. 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; 48(6):672-8. PubMed ID: 23544471
[TBL] [Abstract][Full Text] [Related]
22. BMPR1A mutation-positive juvenile polyposis syndrome and atrial septal defect: coincidence or association?
Harris RE; Russell RK
BMJ Case Rep; 2019 Jun; 12(6):. PubMed ID: 31229977
[TBL] [Abstract][Full Text] [Related]
23. Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome.
Latchford AR; Neale K; Phillips RK; Clark SK
Dis Colon Rectum; 2012 Oct; 55(10):1038-43. PubMed ID: 22965402
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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
[TBL] [Abstract][Full Text] [Related]
26. A novel BMPR1A mutation affects mRNA splicing in juvenile polyposis syndrome.
Imagawa K; Morita A; Fukushima H; Tagawa M; Takada H
Pediatr Int; 2022 Jan; 64(1):e15041. PubMed ID: 34699658
[TBL] [Abstract][Full Text] [Related]
27. 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; 75(1):79-85. PubMed ID: 18823382
[TBL] [Abstract][Full Text] [Related]
28. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.
Menko FH; Kneepkens CM; de Leeuw N; Peeters EA; Van Maldergem L; Kamsteeg EJ; Davidson R; Rozendaal L; Lasham CA; Peeters-Scholte CM; Jansweijer MC; Hilhorst-Hofstee Y; Gille JJ; Heins YM; Nieuwint AW; Sistermans EA
Clin Genet; 2008 Aug; 74(2):145-54. PubMed ID: 18510548
[TBL] [Abstract][Full Text] [Related]
29. 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; 294(19):2465-73. PubMed ID: 16287957
[TBL] [Abstract][Full Text] [Related]
30. mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.
Taylor H; Yerlioglu D; Phen C; Ballauff A; Nedelkopoulou N; Spier I; Loverdos I; Busoni VB; Heise J; Dale P; de Meij T; Sweet K; Cohen MC; Fox VL; Mas E; Aretz S; Eng C; Buderus S; Thomson M; Rojas I; Uhlig HH
Hum Mol Genet; 2021 Jun; 30(14):1273-1282. PubMed ID: 33822054
[TBL] [Abstract][Full Text] [Related]
31. Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.
Guaraldi F; Di Nardo G; Tarani L; Bertelli L; Susca FC; Bagnulo R; Resta N
Eur J Med Genet; 2017 Jul; 60(7):380-384. PubMed ID: 28434922
[TBL] [Abstract][Full Text] [Related]
32. Juvenile polyposis syndrome.
Brosens LA; Langeveld D; van Hattem WA; Giardiello FM; Offerhaus GJ
World J Gastroenterol; 2011 Nov; 17(44):4839-44. PubMed ID: 22171123
[TBL] [Abstract][Full Text] [Related]
33. Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy.
Salviati L; Patricelli M; Guariso G; Sturniolo GC; Alaggio R; Bernardi F; Zuffardi O; Tenconi R
Am J Hum Genet; 2006 Sep; 79(3):593-6; author reply 596-7. PubMed ID: 16909400
[No Abstract] [Full Text] [Related]
34. Juvenile polyposis syndrome: An overview.
Dal Buono A; Gaiani F; Poliani L; Laghi L
Best Pract Res Clin Gastroenterol; 2022; 58-59():101799. PubMed ID: 35988962
[TBL] [Abstract][Full Text] [Related]
35. A novel germline mutation in exon 10 of the SMAD4 gene in a familial juvenile polyposis.
Jee MJ; Yoon SM; Kim EJ; Choi HJ; Kim JW; Sung RH; Han JH; Chae HB; Park SM; Youn SJ
Gut Liver; 2013 Nov; 7(6):747-51. PubMed ID: 24312718
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.
Delnatte C; Sanlaville D; Mougenot JF; Vermeesch JR; Houdayer C; Blois MC; Genevieve D; Goulet O; Fryns JP; Jaubert F; Vekemans M; Lyonnet S; Romana S; Eng C; Stoppa-Lyonnet D
Am J Hum Genet; 2006 Jun; 78(6):1066-74. PubMed ID: 16685657
[TBL] [Abstract][Full Text] [Related]
38. Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.
Golas MM; Auber B; Ripperger T; Pabst B; Schmidt G; Morlot M; Diebold U; Steinemann D; Schlegelberger B; Morlot S
Am J Med Genet A; 2019 Jul; 179(7):1383-1389. PubMed ID: 31062505
[TBL] [Abstract][Full Text] [Related]
39. 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; 13(10):e00527. PubMed ID: 36049049
[TBL] [Abstract][Full Text] [Related]
40. Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes.
Gilad O; Rosner G; Fliss-Isakov N; Aharon-Kaspi S; Strul H; Gluck N; Kariv R
Clin Transl Gastroenterol; 2019 May; 10(5):1-9. PubMed ID: 31107726
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
