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Items: 1 to 20 of 119

1.

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. doi: 10.1097/PAS.0b013e318211cae1.

2.

SMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome.

Langeveld D, van Hattem WA, de Leng WW, Morsink FH, Ten Kate FJ, Giardiello FM, Offerhaus GJ, Brosens LA.

Clin Cancer Res. 2010 Aug 15;16(16):4126-34. doi: 10.1158/1078-0432.CCR-10-0168. Epub 2010 Aug 3.

3.

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. doi: 10.1136/gut.2007.142927. Epub 2008 Jan 4.

PMID:
18178612
4.

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;104(12):3027-33. doi: 10.1038/ajg.2009.542. Epub 2009 Sep 22.

PMID:
19773747
5.

Increased cyclooxygenase-2 expression in juvenile polyposis syndrome.

van Hattem WA, Brosens LA, Marks SY, Milne AN, van Eeden S, Iacobuzio-Donahue CA, Ristimäki A, Giardiello FM, Offerhaus GJ.

Clin Gastroenterol Hepatol. 2009 Jan;7(1):93-7. doi: 10.1016/j.cgh.2008.07.030. Epub 2008 Aug 5.

6.

Somatic alterations in juvenile polyps from BMPR1A and SMAD4 mutation carriers.

Blatter RH, Plasilova M, Wenzel F, Gokaslan ST, Terracciano L, Ashfaq R, Heinimann K.

Genes Chromosomes Cancer. 2015 Sep;54(9):575-82. doi: 10.1002/gcc.22270. Epub 2015 Jul 14.

PMID:
26171675
7.

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. Epub 2007 Jun 15.

PMID:
17573831
8.

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. doi: 10.1111/j.1399-0004.2008.01091.x. Epub 2008 Sep 24.

PMID:
18823382
9.

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;102(1):114-8. doi: 10.1002/bjs.9693. Epub 2014 Nov 12.

PMID:
25389115
10.

Massive gastric polyposis associated with a germline SMAD4 gene mutation.

Soer E, de Vos Tot Nederveen Cappel WH, Ligtenberg MJ, Moll F, Pierik RG, Vecht J, Vasen HF, Flierman A.

Fam Cancer. 2015 Dec;14(4):569-73. doi: 10.1007/s10689-015-9822-z.

PMID:
26159157
11.

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. doi: 10.1111/j.1399-0004.2011.01676.x. Epub 2011 May 4.

PMID:
21476993
12.

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. Epub 2007 Sep 14.

13.

Juvenile polyposis syndrome.

Brosens LA, Langeveld D, van Hattem WA, Giardiello FM, Offerhaus GJ.

World J Gastroenterol. 2011 Nov 28;17(44):4839-44. doi: 10.3748/wjg.v17.i44.4839. Review.

14.

Massive gastric juvenile-type polyposis: a clinicopathological analysis of 22 cases.

Gonzalez RS, Adsay V, Graham RP, Shroff SG, Feely MM, Drage MG, Lewin DN, Swanson EA, Yantiss RK, Bağci P, Krasinskas AM.

Histopathology. 2017 May;70(6):918-928. doi: 10.1111/his.13149. Epub 2017 Feb 16.

PMID:
27991685
15.

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 1;60(9):2477-82.

16.

Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

O'Riordan JM, O'Donoghue D, Green A, Keegan D, Hawkes LA, Payne SJ, Sheahan K, Winter DC.

Colorectal Dis. 2010 Jun;12(6):570-3. doi: 10.1111/j.1463-1318.2009.01931.x. Epub 2009 Apr 29.

PMID:
19438883
17.

Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.

Kim IJ, Park JH, Kang HC, Kim KH, Kim JH, Ku JL, Kang SB, Park SY, Lee JS, Park JG.

Clin Genet. 2003 Feb;63(2):126-30.

PMID:
12630959
18.

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. doi: 10.1053/j.gastro.2013.02.001. Epub 2013 Feb 8.

19.

No TGFBRII germline mutations in juvenile polyposis patients without SMAD4 or BMPR1A mutation.

Brosens LA, van Hattem WA, Kools MC, Ezendam C, Morsink FH, de Leng WW, Giardiello FM, Offerhaus GJ.

Gut. 2009 Jan;58(1):154-6. doi: 10.1136/gut.2008.161232. No abstract available.

20.

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. doi: 10.5009/gnl.2013.7.6.747. Epub 2013 Nov 11.

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