| 1 | BMPR1A, JPS3
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| Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.
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| Calva-Cerqueira D, Dahdaleh FS, Woodfield G, Chinnathambi S, Nagy PL, Larsen-Haidle J, Weigel RJ, Howe JR.
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| Hum Mol Genet 19(23):4654-62. Epub 2010 Sep 14.
2010
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| 2 | BMPR1A, JPS, JPS3, SMAD4
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| The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
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| Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR.
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| Clin Genet 75(1):79-85. Epub 2008 Sep 24.
2009
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| 3 | BMPR1A, ENG, JPS, JPS2, JPS3, JPS4, PTEN, SMAD4
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| Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
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| van Hattem WA, Brosens LA, de Leng WW, Morsink FH, Lens S, Carvalho R, Giardiello FM, Offerhaus GJ.
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| Gut 57(5):623-7. Epub 2008 Jan 4.
2008
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| 4 | JPS, JPS2, JPS3, JPHT, HMPS2, SMAD4, BMPR1A, PTEN
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| High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
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| 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.
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| J Med Genet 44(11):702-9. Epub 2007 Sep 14. 2007
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| 5 | JPS, JPS2, JPS3, BMPR1A, SMAD4
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| Mutation screening in juvenile polyposis syndrome.
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| Pyatt RE, Pilarski R, Prior TW.
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| J Mol Diagn 8(1):84-8. 2006
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| 6 | JPS, JPS2, JPS3, JPS4, ENG, DEL22Q11, DUP22Q11
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| Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
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| 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.
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| JAMA 294(19):2465-73. 2005
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| 7 | SMAD4, JPS, BMPR1A, JPS3
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| The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
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| Howe JR, Sayed MG, Ahmed AF, Ringold J, Larsen-Haidle J, Merg A, Mitros FA, Vaccaro CA, Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT.
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| J Med Genet 41(7):484-91. 2004
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| 8 | JPS, JPS2, JPS3, PTEN, BMPR1A, SMAD4
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| Genetic conditions associated with intestinal juvenile polyps.
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| Merg A, Howe JR.
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| Am J Med Genet C Semin Med Genet 129(1):44-55. Review. 2004
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| 9 | BMPR1A, JPS3
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| Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
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| Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Jarvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C.
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| Am J Hum Genet 69(4):704-11. 2001
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| 10 | BMPR1A, JPS3
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| Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.
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| Howe JR, Bair JL, Sayed MG, Anderson ME, Mitros FA, Petersen GM, Velculescu VE, Traverso G, Vogelstein B.
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| Nat Genet 28(2):184-7. 2001
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