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Items: 1 to 20 of 106

2.

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
3.

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
4.

[Haplotype and linkage analysis in Chinese hereditary mixed polyposis syndrome].

Peng H, Cao X, Li HH, Carol L, Eu KW, Wang JP.

Zhonghua Wei Chang Wai Ke Za Zhi. 2005 Jul;8(4):312-5. Chinese.

PMID:
16167249
5.

Clinical and molecular features of the hereditary mixed polyposis syndrome.

Whitelaw SC, Murday VA, Tomlinson IP, Thomas HJ, Cottrell S, Ginsberg A, Bukofzer S, Hodgson SV, Skudowitz RB, Jass JR, Talbot IC, Northover JM, Bodmer WF, Solomon E.

Gastroenterology. 1997 Feb;112(2):327-34.

PMID:
9024286
6.

Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q.

Thomas HJ, Whitelaw SC, Cottrell SE, Murday VA, Tomlinson IP, Markie D, Jones T, Bishop DT, Hodgson SV, Sheer D, Northover JM, Talbot IC, Solomon E, Bodmer WF.

Am J Hum Genet. 1996 Apr;58(4):770-6.

7.

An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.

Jaeger EE, Woodford-Richens KL, Lockett M, Rowan AJ, Sawyer EJ, Heinimann K, Rozen P, Murday VA, Whitelaw SC, Ginsberg A, Atkin WS, Lynch HT, Southey MC, Debinski H, Eng C, Bodmer WF, Talbot IC, Hodgson SV, Thomas HJ, Tomlinson IP.

Am J Hum Genet. 2003 May;72(5):1261-7. Epub 2003 Apr 14.

8.

Genome-wide scan identifies a copy number variable region at 3q26 that regulates PPM1L in APC mutation-negative familial colorectal cancer patients.

Thean LF, Loi C, Ho KS, Koh PK, Eu KW, Cheah PY.

Genes Chromosomes Cancer. 2010 Feb;49(2):99-106. doi: 10.1002/gcc.20724.

PMID:
19847890
9.
10.

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
11.

Exclusion of an extracolonic disease modifier locus on chromosome 1p33-36 in a large Swiss familial adenomatous polyposis kindred.

Plasilova M, Russell AM, Wanner A, Wolf A, Dobbie Z, Müller HJ, Heinimann K.

Eur J Hum Genet. 2004 May;12(5):365-71.

12.

A genome wide linkage analysis in Swedish families with hereditary non-familial adenomatous polyposis/non-hereditary non-polyposis colorectal cancer.

Djureinovic T, Skoglund J, Vandrovcova J, Zhou XL, Kalushkova A, Iselius L, Lindblom A.

Gut. 2006 Mar;55(3):362-6. Epub 2005 Sep 8.

13.

Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22.

Middleton FA, Pato MT, Gentile KL, Morley CP, Zhao X, Eisener AF, Brown A, Petryshen TL, Kirby AN, Medeiros H, Carvalho C, Macedo A, Dourado A, Coelho I, Valente J, Soares MJ, Ferreira CP, Lei M, Azevedo MH, Kennedy JL, Daly MJ, Sklar P, Pato CN.

Am J Hum Genet. 2004 May;74(5):886-97. Epub 2004 Apr 1.

14.

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

Howe JR, Bair JL, Sayed MG, Anderson ME, Mitros FA, Petersen GM, Velculescu VE, Traverso G, Vogelstein B.

Nat Genet. 2001 Jun;28(2):184-7.

PMID:
11381269
15.

Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1.

Tang YG, Rabinowitz YS, Taylor KD, Li X, Hu M, Picornell Y, Yang H.

Genet Med. 2005 Jul-Aug;7(6):397-405.

PMID:
16024971
16.

[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, Stoppa-Lyonnet D.

Med Sci (Paris). 2006 Nov;22(11):912-3. French. No abstract available.

17.

A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.

Hiljadnikova Bajro M, Sukarova-Angelovska E, Adélaïde J, Chaffanet M, Dimovski AJ.

J Appl Genet. 2013 Feb;54(1):43-7. doi: 10.1007/s13353-012-0115-z. Epub 2012 Sep 21.

PMID:
22993021
18.

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
19.
20.

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

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