Citations for
1BMPR1A, ENG, JPS, JPS2, JPS3, JPS4, PTEN, SMAD4
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 57(5):623-7. Epub 2008 Jan 4. 2008
2JPS, JPS2, JPS3, JPHT, HMPS2, SMAD4, BMPR1A, PTEN
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 44(11):702-9. Epub 2007 Sep 14. 2007
3JPS, JPS2, JPS3, BMPR1A, SMAD4
Mutation screening in juvenile polyposis syndrome.
Pyatt RE, Pilarski R, Prior TW.
J Mol Diagn 8(1):84-8. 2006
4DEL10Q23, BMPR1A, PTEN, JPS2
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 78(6):1066-74. Epub 2006 Apr 14. 2006
5JPS, JPS2, JPS3, JPS4, ENG, DEL22Q11, DUP22Q11
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 294(19):2465-73. 2005
6JPS, JPS2, JPS3, PTEN, BMPR1A, SMAD4
Genetic conditions associated with intestinal juvenile polyps.
Merg A, Howe JR.
Am J Med Genet C Semin Med Genet 129(1):44-55. Review. 2004
7JPS2, PTEN
PTEN germ-line mutations in juvenile polyposis coli.
Olschwang S, Serova-Sinilnikova OM, Lenoir GM, Thomas G.
Nat Genet 18(1):12-4. No abstract available. 1998
8BZS, HMPS, JPS2, MHAM, PJS1
Molecular classification of the inherited hamartoma polyposis syndromes : clearing the muddied waters.
Eng C, et al.
Am J Hum Genet 62 : 1020-1022. 1998