1 | APC, FAP
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| APC germline mutations in families with familial adenomatous polyposis.
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| De Queiroz Rossanese LB, De Lima Marson FA, Ribeiro JD, Coy CS, Bertuzzo CS.
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| Oncol Rep 30(5):2081-8. doi: 10.3892/or.2013.2681. Epub 2013 Aug 21.
2013
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2 | APC, FAP, MAP, MUTYH
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| APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
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| Filipe B, Baltazar C, Albuquerque C, Fragoso S, Lage P, Vitoriano I, Mão de Ferro S, Claro I, Rodrigues P, Fidalgo P, Chaves P, Cravo M, Nobre Leitão C.
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| Clin Genet 76(3):242-55.
2009
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3 | APC, FAP,HDD
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| APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.
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| Latchford A, Volikos E, Johnson V, Rogers P, Suraweera N, Tomlinson I, Phillips R, Silver A.
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| Hum Mol Genet 16(1):78-82. Epub 2006 Nov 29. 2007
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4 | APC, FAP
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| Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.
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| Nielsen M, Bik E, Hes FJ, Breuning MH, Vasen HF, Bakker E, Tops CM, Weiss MM.
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| Eur J Hum Genet 15(10):1034-42. Epub 2007 Jun 13. 2007
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5 | FAP, APC, MAP, MUTYH
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| Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
|
| Nielsen M, Hes FJ, Nagengast FM, Weiss MM, Mathus-Vliegen EM, Morreau H, Breuning MH, Wijnen JT, Tops CM, Vasen HF.
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| Clin Genet 71(5):427-33. 2007
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6 | MUTYH, APC, FAP, FTACC
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| MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.
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| Aretz S, Uhlhaas S, Goergens H, Siberg K, Vogel M, Pagenstecher C, Mangold E, Caspari R, Propping P, Friedl W.
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| Int J Cancer 119(4):807-14. 2006
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7 | MUTYH, APC, FAP, FTACC
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| Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.
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| Russell AM, Zhang J, Luz J, Hutter P, Chappuis PO, Berthod CR, Maillet P, Mueller H, Heinimann K.
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| Int J Cancer 118(8):1937-40. 2006
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8 | FAP, APC, HDD
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| Current ideas in desmoid tumours.
|
| Sturt NJ, Clark SK.
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| Fam Cancer 5(3):275-85; discussion 287-8. Review. 2006
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9 | APC,DEL5Q,FAP
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| Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.
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| Ofner L, Raedle J, Windpassinger C, Schwarzbraun T, Kroisel PM, Wagner K, Petek E.
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| J Hum Genet 51(2):141-6. Epub 2005 Dec 20. 2006
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10 | APC,DEL5Q,FAP
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| Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.
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| Michils G, Tejpar S, Thoelen R, van Cutsem E, Vermeesch JR, Fryns JP, Legius E, Matthijs G.
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| Hum Mutat 25(2):125-34. 2005
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11 | FAP, HDD
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| Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation.
|
| Sturt NJ, Gallagher MC, Bassett P, Philp CR, Neale KF, Tomlinson IP, Silver AR, Phillips RK.
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| Gut 53(12):1832-6. 2004
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12 | HNPCC1, HNPCC2, HNPCC3, HNPCC4, FAP, MUTYH, MAP
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| An update on the genetics of colorectal cancer.
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| Kemp Z, Thirlwell C, Sieber O, Silver A, Tomlinson I.
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| Hum Mol Genet 13 Spec No 2:R177-85. Review. 2004
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13 | FAP, APC
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| Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients.
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| Crabtree M, Sieber OM, Lipton L, Hodgson SV, Lamlum H, Thomas HJ, Neale K, Phillips RK, Heinimann K, Tomlinson IP.
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| Oncogene 22(27):4257-65. 2003
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14 | APC, KRAS, TP53, FAP
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| Mutations in APC, Kirsten-ras, and p53--alternative genetic pathways to colorectal cancer.
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| Smith G, Carey FA, Beattie J, Wilkie MJ, Lightfoot TJ, Coxhead J, Garner RC, Steele RJ, Wolf CR.
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| Proc Natl Acad Sci U S A 99(14):9433-8. 2002
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15 | APC,DEL5Q,FAP
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| Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or multiple colorectal adenomas.
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| Sieber OM, Lamlum H, Crabtree MD, Rowan AJ, Barclay E, Lipton L, Hodgson S, Thomas HJ, Neale K, Phillips RK, Farrington SM, Dunlop MG, Mueller HJ, Bisgaard ML, Bulow S, Fidalgo P, Albuquerque C, Scarano MI, Bodmer W, Tomlinson IP, Heinimann K.
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| Proc Natl Acad Sci U S A 99(5):2954-8. Epub 2002 Feb 26. 2002
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16 | APC, FAP
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| Distinctive molecular genetic alterations in sporadic and familial adenomatous polyposis-associated pancreatoblastomas : frequent alterations in the APC/beta-catenin pathway and chromosome 11p.
|
| Abraham SC, Wu TT, Klimstra DS, Finn LS, Lee JH, Yeo CJ, Cameron JL, Hruban RH.
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| Am J Pathol 159(5):1619-27. 2001
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17 | DEL5Q,FAP
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| A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation.
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| Raedle J, Friedl W, Engels H, Koenig R, Trojan J, Zeuzem S.
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| Am J Gastroenterol 96(10):3016-20. 2001
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18 | APC, FAP
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| Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23.3) in the father.
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| Hastings RJ, Svennevik EC, Setterfield B, Wells D, Delhanty JD, Mackinnon H.
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| J Med Genet 37(2):141-5. No abstract available. 2000
|
19 | APC, FAP
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| Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis
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| Su LK, Steinbach G, Sawyer JC, Hindi M, Ward PA, Lynch PM.
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| Hum Genet 106:101-107 2000
|
20 | APC, FAP
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| APC mutations are sufficient for the growth of early colorectal adenomas.
|
| Lamlum H, Papadopoulou A, Ilyas M, Rowan A, Gillet C, Hanby A, Talbot I, Bodmer W, Tomlinson I.
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| Proc Natl Acad Sci U S A 97(5):2225-8. 2000
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21 | APC, FAP
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| APC mutations in sporadic colorectal tumors: A mutational hotspot and interdependence of the two hits.
|
| Rowan AJ, Lamlum H, Ilyas M, Wheeler J, Straub J, Papadopoulou A, Bicknell D, Bodmer WF, Tomlinson IP.
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| Proc Natl Acad Sci U S A 97(7):3352-7. 2000
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22 | APC, FAP
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| Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis.
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| Su LK, Barnes CJ, Yao W, Qi Y, Lynch PM, Steinbach G.
|
| Am J Hum Genet 67(3):582-90. 2000
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23 | APC, FAP
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| Molecular analysis of the APC gene in 205 families : extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition.
|
| Wallis YL, Morton DG, McKeown CM, Macdonald F.
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| J Med Genet 36 : 14-20. 1999
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24 | APC, FAP
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| Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation.
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| Kartheuser A, Walon C, West S, Breukel C, Detry R, Gribomont AC, Hamzehloei T, Hoang P, Maiter D, Pringot J, Rahier J, Khan PM, Curtis A, Burn J, Fodde R, Verellen-Dumoulin C.
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| J Med Genet 36 : 65-67. 1999
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25 | APC, CTNNB1, FAP
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| Target genes of beta-catenin-T cell-factor/lymphoid-enhancer-factor signaling in human colorectal carcinomas.
|
| Mann B, et al.
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| Proc Natl Acad Sci U S A 96 : 1603-1608. 1999
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26 | APC, CTNNB1, FAP
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| Germline mutations are frequent in the APC gene but absent in the beta-catenin gene in familial adenomatous polyposis patients.
|
| Cao X, et al.
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| Genes Chromosomes Cancer 25(4):396-8. 1999
|
27 | APC, FAP
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| Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis.
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| Dihlmann S, et al.
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| Cancer Res 59(8):1857-60. 1999
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28 | APC, FAP
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| The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.
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| Lamlum H, et al.
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| Nat Med 5(9):1071-5 1999
|
29 | APC, FAP
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| Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism.
|
| Gryfe R, et al.
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| Am J Hum Genet 64(2):378-84 1999
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30 | APC, CTNNB1, FAP
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| Frequent mutation of beta-catenin and APC genes in primary colorectal tumors from patients with hereditary nonpolyposis colorectal cancer.
|
| Miyaki M, Iijima T, Kimura J, Yasuno M, Mori T, Hayashi Y, Koike M, Shitara N, Iwama T, Kuroki T.
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| Cancer Res 59(18):4506-9 1999
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31 | APC, FAP
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| Genotype-phenotype correlations in attenuated adenomatous polyposis coli.
|
| Soravia C, et al.
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| Am J Hum Genet 62 : 1290-1301. 1998
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32 | APC, FAP
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| The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
|
| Frayling IM, et al.
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| Proc Natl Acad Sci U S A 95 : 10722-10727. 1998
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33 | APC, BRCA1, DPP4, MLH1, MSH2, MSH6, NF1, PMS2, RB1, TP53, VHL, WT1, FAP
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| Tumour suppressor gene mutations in humans and mice : parallels and contrasts.
|
| Hooper ML.
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| EMBO J 17(23):6783-9. 1998
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34 | APC, FAP
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| Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps.
|
| Spirio LN, et al.
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| Nat Genet 20 : 385-388. 1998
|
35 | APC, KRAS1P, FAP
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| [Analysis of genetic disorders of cancer of the rectum : differences in relation to cancer of the colon].
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| Rebischung C, Laurent-Puig P, Gerard JP, Thomas G, Hamelin R.
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| Gastroenterol Clin Biol 22 : 679-687. 1998
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36 | APC, FAP
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| Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis : 67 germline mutations identified by DGGE, PTT, and Southern analysis.
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| Van der Luijt RB, et al.
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| Hum Mutat 9 : 7-16. 1997
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37 | APC, CTNNB1, LEF1, FAP
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| Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC.
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| Morin PJ, et al.
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| Science 275 : 1787-1790. 1997
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38 | APC, CTNNB1, TCF7L2, FAP
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| Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma.
|
| Korinek V, et al.
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| Science 275 : 1784-1787. 1997
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39 | APC, FAP
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| Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.
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| Gismondi V, et al.
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| Hum Mutat 9 : 370-373. 1997
|
40 | APC, FAP
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| Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.
|
| Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, Hampel H, Markowitz A, Klimstra D, Jhanwar S, Winawer S, Offit K, Luce MC, Kinzler KW, Vogelstein B.
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| Nat Genet 17(1):79-83. 1997
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41 | APC, FAP
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| Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds.
|
| Walon C, Kartheuser A, Michils G, Smaers M, Lannoy N, Ngounou P, Mertens G, Verellen-Dumoulin C.
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| Hum Genet 100(5-6):601-5. 1997
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42 | APC, FAP
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| Familial adenomatous polyposis : a submicroscopic deletion at the APC locus in a family with mentally normal patients.
|
| Mandl M, et al.
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| Hum Genet 97 : 204-208. 1996
|
43 | APC, FAP
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| Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein.
|
| Friedl W, et al.
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| Hum Genet 97 : 579-584. 1996
|
44 | APC, TP53, FAP
|
| Database of mutations in the p53 and APC tumor suppressor genes designedto facilitate molecular epidemiological analyses.
|
| de Vries EMG, et al.
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| Hum Mutat 7 : 202-213. 1996
|
45 | APC, FAP
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| Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.
|
| Dobbie Z, et al.
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| J Med Genet 33 : 274-280. 1996
|
46 | APC, FAP
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| Identification of a novel single base insertion in the adenomatous polyposis coli gene.
|
| Kotze MJ, et al.
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| Hum Mutat 7 : 68-69. 1996
|
47 | APC, FAP
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| APC mutations in colorectal tumors with mismatch repair deficiency.
|
| Huang J, et al.
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| Proc Natl Acad Sci U S A 93 : 9049-9054. 1996
|
48 | APC, FAP
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| Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.
|
| Van der Luijt RB, et al.
|
| Hum Genet 98 : 727-734. 1996
|
49 | APC, FAP
|
| Three novel APC gene mutations in Portuguese FAP kindreds.
|
| Marshall B, et al.
|
| Hum Mutat 8 : 395. 1996
|
50 | APC, FAP
|
| Mutation detection in exons 1-14 of the adenomatous polyposis coli gene : identification of an alternatively spliced transcript.
|
| Hamzehloei T, et al.
|
| Mol Cell Probes 10 : 379-385. 1996
|
51 | APC, TSG5A, FAP
|
| APC gene mutations and allelic losses in sporadic ampullary tumours : evidence of genetic difference from tumours associated with familial adenomatous polyposis.
|
| Achille A, et al.
|
| Int J Cancer 68 : 305-312. 1996
|
52 | APC, CHRPE, FAP
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| Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Novel criteria of assessment and correlations with constitutional adenomatous polyposis coli gene mutations.
|
| Valanzano R, Cama A, Volpe R, Curia MC, Mencucci R, Palmirotta R, Battista P, Ficari F, Mariani-Costantini R, Tonelli F.
|
| Cancer 78(11):2400-10.PMID: 8941012 [PubMed - indexed for MEDLINE] 1996
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53 | APC, FAP
|
| Multiplex PCR analysis and genotype-phenotype correlations of frequent APC mutations.
|
| Cama A, et al.
|
| Hum Mutat 5 : 144-152. 1995
|
54 | APC, CHRPE, FAP
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| Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.
|
| Davies DR, et al.
|
| Am J Hum Genet 57 : 1151-1158. 1995
|
55 | APC, FAP
|
| Attenuated familial adenomatous polyposis (AFAP).
|
| Lynch HT, et al.
|
| Cancer 76 : 2427-2433. 1995
|
56 | APC, FAP
|
| Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer.
|
| Joyce JA, et al.
|
| Clin Genet 48 : 299-303. 1995
|
57 | APC, FAP
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| Familial adenomatous polyposis : desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.
|
| Caspari R, et al.
|
| Hum Mol Genet 4 : 337-340. 1995
|
58 | APC, MLH1, MHS2, PMS2, FAP
|
| The molecular basis of Turcot's syndrome.
|
| Hamilton SR, et al.
|
| N Engl J Med 332 : 839-847. 1995
|
59 | APC, FAP
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| Haplotype comparison in fresh mutation cases of adenomatous polyposis coli due to deletion AAAGA at codon 1309.
|
| Delhanty JDA, et al.
|
| Ann Hum Genet 59 : 39-42. 1995
|
60 | APC, FAP
|
| Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5;10)(q22;q25) responsible for familial adenomatous polyposis in a Dutch pedigree.
|
| Van der Luijt RB, et al.
|
| Genes Chromosomes Cancer 13 : 192-202. 1995
|
61 | APC, FAP
|
| Rapid detection of rare variants and common polymorphisms in the APC gene by PCR-SSCP for presymptomatic diagnosis and showing allele loss.
|
| Gayther SA, et al.
|
| J Med Genet 32 : 568-571. 1995
|
62 | APC, FAP
|
| Evidence for a novel exon in the coding region of the adenomatous polyposis coli (APC) gene.
|
| Xia L, et al.
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| Genomics 28 : 589-591. 1995
|
63 | APC, FAP
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| Exon eight APC mutations account for a disproportionate number of familial adenomatous polyposis families.
|
| Koorey DJ, et al.
|
| Hum Mutat 3 : 12-18. 1994
|
64 | APC, TSG5A, FAP
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| Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death.
|
| Varesco L, et al.
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| Hum Genet 93 : 281-286. 1994
|
65 | APC, FAP
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| Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.
|
| Mandl M, et al.
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| Hum Mol Genet 3 : 181-184. 1994
|
66 | APC, FAP
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| Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.
|
| Gayther SA, et al.
|
| Hum Mol Genet 3 : 53-56. 1994
|
67 | APC, TSG5A, FAP
|
| Frequent polymorphism in exon 15 of the adenomatous polyposis coli gene.
|
| Davies SM, et al.
|
| Hum Genet 93 : 329-330. 1994
|
68 | APC, FAP
|
| Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.
|
| Barber JCK, et al.
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| J Med Genet 31 : 312-316. 1994
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69 | APC, FAP
|
| A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells - implications for predictive diagnosis.
|
| Mandl M, et al.
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| Hum Mol Genet 3 : 1009-1011. 1994
|
70 | APC, FAP, FAP
|
| Four novel germ-line mutations in the APC gene detected by heteroduplex analysis.
|
| Hamzehloei T, et al.
|
| Hum Mol Genet 3 : 1023-1024. 1994
|
71 | APC, FAP
|
| Identification of a novel germline mutation in a FAP family.
|
| Gebert JF, et al.
|
| Hum Mol Genet 3 : 1167-1168. 1994
|
72 | APC, FAP
|
| Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients.
|
| Stella A, et al.
|
| Hum Mol Genet 3 : 1687-1688. 1994
|
73 | APC, FAP
|
| Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene.
|
| Paffenholz R, et al.
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| Hum Mol Genet 3 : 1703-1704. 1994
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74 | APC, FAP
|
| APC mutation associated with late onset of familial adenomatous polyposis.
|
| Smith-Ravin J, et al.
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| J Med Genet 31 : 888-890. 1994
|
75 | APC, FAP
|
| Characterization of two novel adenomatous polyposis coli (APC) gene mutations in patients with familial adenomatous polyposis (FAP).
|
| Bapat B, et al.
|
| Hum Mutat 4 : 253-256. 1994
|
76 | APC, FAP
|
| Mutations of the adenomatous polyposis coli gene in the mutation cluster region : comparison of human pancreatic and colorectal cancers.
|
| Yashima K, et al.
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| Int J Cancer 59 : 43-47. 1994
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77 | APC, FAP
|
| Mutations of the APC (adenomatous polyposis coli) gene.
|
| Nagase H, et al.
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| Hum Mutat 2 : 425-434. 1993
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78 | APC, FAP
|
| Molecular diagnosis of familial adenomatous polyposis.
|
| Powell SM, et al.
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| N Engl J Med 329 : 1982-1987. 1993
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79 | CHRPE, APC, FAP
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| Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.
|
| Olschwang S, et al.
|
| Cell 75 : 959-968. 1993
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80 | APC, FAP
|
| Alleles of the APC gene : an attenuated form of familial polyposis.
|
| Spirio L, et al.
|
| Cell 75 : 951-957. 1993
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81 | APC, FAP
|
| A novel mutation of the APC (adenomatous polyposis coli) gene in a familial adenomatous polyposis (FAP) patient and presymptomatic diagnosis using PCR.
|
| Ichii S, et al.
|
| Hum Mol Genet 2 : 597. 1993
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82 | APC, FAP
|
| Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis.
|
| Petersen GM, et al.
|
| Hum Genet 91 : 307-311. 1993
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83 | APC, FAP
|
| Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.
|
| Paul P, et al.
|
| Hum Mol Genet 2 : 925-931. 1993
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84 | APC, FAP
|
| Mutational analysis of patients with adenomatous polyposis : identical inactivating mutations in unrelated individuals.
|
| Groden J, et al.
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| Am J Hum Genet 52 : 263-272. 1993
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85 | APC, FAP
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| The APC (adenomatous polyposis coli) gene : a novel mutation in an FAP patient and a DdeI polymorphism in the 5' noncoding region.
|
| Mori T, et al.
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| Hum Mutat 2 : 240-243. 1993
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86 | APC, FAP
|
| Linkage studies in Italian families with familial adenomatous polyposis.
|
| Mareni C, et al.
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| Hum Genet 90 : 545-550. 1993
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87 | APC, FAP
|
| Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer.
|
| Miki Y, et al.
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| Cancer Res 52 : 643-645. 1992
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88 | APC, FAP
|
| Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis.
|
| Lindgren V, et al.
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| Am J Hum Genet 50 : 988-997. 1992
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89 | APC, FAP
|
| Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.
|
| Miyoshi Y, et al.
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| Proc Natl Acad Sci U S A 89 : 4452-4456. 1992
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90 | APC, FAP
|
| Familial adenomatous polyposis : identification of a new frameshift mutation of the APC gene in an Italian family.
|
| Stella A, et al.
|
| Biochem Biophys Res Commun 184 : 1357-1363. 1992
|
91 | APC, MCC, FAP
|
| Evidence that the MCC-APC gene region in 5q21 is not the site for susceptibility to hereditary nonpolyposis colorectal carcinoma.
|
| PeltomŠki P, et al.
|
| Cancer Res 52 : 4530-4533. 1992
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92 | APC, FAP
|
| Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus.
|
| Spirio L, et al.
|
| Am J Hum Genet 51 : 92-100. 1992
|
93 | APC, FAP
|
| An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations.
|
| Cross I, et al.
|
| J Med Genet 29 : 175-179. 1992
|
94 | APC, DIHBD, FAP
|
| Two cases of 5q deletions in patients with familial adenomatous polyposis : possible link with Caroli's disease.
|
| Hodgson SV, et al.
|
| J Med Genet 30 : 369-375. 1992
|
95 | APC, FAP
|
| Inactivation of both APC alleles in an early stage of colon adenomas in a patient with familial adenomatous polyposis (FAP).
|
| Ichii S, et al.
|
| Hum Mol Genet 1 : 387-390. 1992
|
96 | APC, FAP
|
| Identification and characterization of the familial adenomatous polyposis coli gene.
|
| Groden J, et al.
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| Cell 66 : 589-600. 1991
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97 | APC, FAP
|
| Linkage analysis in adenomatous polyposis coli: the use of four closely linked DNA probes in 20 UK families.
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| J Med Genet 28 : 681-685. 1991
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98 | APC, D5S299, FAP
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| CA repeat polymorphism at the D5S299 locus linked to adenomatous polyposis coli (APC).
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| van Leeuwen C, et al.
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| Nucleic Acids Res 19 : 5805. 1991
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99 | APC, FAP
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| Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.
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| Kobayashi T, et al.
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| Am J Med Genet 41 : 460-463. 1991
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100 | APC, D5S71, FAP
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| A new deletion polymorphism at D5S71 raises the linkage information on adenomatous polyposis coli : implications for presymptomatic diagnosis.
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| Tops CMJ, et al.
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| Hum Genet 86 : 365-368. 1991
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101 | SRP19, APC, REEP5, FAP
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| Identification of deletion mutations and three new genes at the familial polyposis locus.
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| Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W,Groden J, Stevens J, Spirio L, Robertson M, et al.
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| Cell 66(3):601-13. 1991
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102 | APC, FAP, REEP5, SLC25A46
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| Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.
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| Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P.
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| Science 253(5020):665-9. 1991
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103 | APC, FAP
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| Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps.
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| Leppert M, et al.
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| N Engl J Med 322 : 904-908. 1990
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104 | APC, FAP
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| A constitutional 5q23 deletion.
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| Rivera H, et al.
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| J Med Genet 27 : 267-268. 1990
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105 | APC, FAP
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| Genetic linkage map of six polymorphic DNA markers around the gene for familial adenomatous polyposis on chromosome 5.
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| Dunlop MG, et al.
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| Am J Hum Genet 47 : 982-987. 1990
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106 | APC, FAP
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| Deletion of chromosome 5q and familial adenomatous polyposis.
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| Hockey KA, Mulcahy MT, Montgomery P, Levitt S.
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| J Med Genet 26 : 61-68. 1989
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107 | APC, FAP
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| Linkage analysis in familial adenomatous polyposis : order of C11P11 (D5S71) and pi227 (D5S37) loci at the apc gene.
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| Dunlop MG, Steel CM, Wyllie AH, Bird CC, Evans HJ.
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| Genomics 5 : 350-353. 1989
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108 | APC, FAP
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| Presymptomatic diagnosis of familial adenomatous polyposis by bridging DNA markers.
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| Tops CMJ, et al.
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| Lancet II : 1361-1363. 1989
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109 | APC, D5S120, FAP
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| High frequency of APC loss in sporadic colorectal carcinoma due to breaks clustered in 5q21-q22.
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| Ashton-Rickardt PG, et al.
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| Oncogene 4 : 1169-1174. 1989
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110 | APC, D5S81, D5S82, D5S83, D5S84, D5S85, D5S86, FAP
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| Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5.
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| Nakamura Y, Lathrop M, Leppert M, Dobbs M, Wasmuth J, Wolff E, Carlson M, Fujimoto E, Krapcho K, Sears T, et al.
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| Am J Hum Genet 43 : 638-644. 1988
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111 | APC, CHRPE, FAP
|
| A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium.
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| Lyons LA, et al.
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| Am J Hum Genet 42 : 290-296. 1988
|
112 | APC, FAP
|
| Chromosome 5 allele loss at the glucocorticoid receptor locus in human colorectal carcinomas.
|
| Wildrick DM, et al.
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| Biochem Biophys Res Commun 150 : 591-598. 1988
|
113 | APC, D5S37, D5S71, FAP
|
| Close linkage of a highly polymorphic marker (D5S37) to familial adenomatous polyposis (FAP) and confirmation of FAP localization on chromosome 5q21-q22.
|
| Meera Khan P, et al.
|
| Hum Genet 79 : 183-185. 1988
|
114 | APC, D5S71, FAP
|
| Localization of the gene for familial adenomatous polyposis on chromosome 5.
|
| Bodmer WF, Bailey CJ, Bodmer J, Bussey HJ, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler P, et al.
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| Nature 328 : 614-616. 1987
|
115 | APC, D5S43, FAP
|
| Chromosome 5 allele loss in human colorectal carcinomas.
|
| Solomon E, Voss R, Hall V, Bodmer WF, Jass JR, Jeffreys AJ, Lucibello FC, Patel I, Rider SH.
|
| Nature 328 : 616-619. 1987
|
116 | APC, D5S21, D5S22, D5S39, D5S70, D5S71, D5S74, D5S76, D5S78, FAP
|
| The gene for familial polyposis coli maps to the long arm of chromosome 5.
|
| Leppert M, et al.
|
| Science 238 : 1411-1413. 1987
|
117 | APC, FAP
|
| Gardner syndrome in a man with an interstitial deletion of 5q.
|
| Herrera L, et al.
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| Am J Med Genet 25 : 473-476. 1986
|
118 | APC, FAP
|
| The Gardner syndrome. Significance of ocular features.
|
| Lewis RA, et al.
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| Ophthalmology 91 : 916-925. 1984
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