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Items: 1 to 50 of 68

1.

Familial Colorectal Cancer Type X.

Zetner DB, Bisgaard ML.

Curr Genomics. 2017 Aug;18(4):341-359. doi: 10.2174/1389202918666170307161643. Review.

2.

Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease.

Binderup MLM, Stendell AS, Galanakis M, Møller HU, Kiilgaard JF, Bisgaard ML.

Br J Ophthalmol. 2018 Jul;102(7):942-947. doi: 10.1136/bjophthalmol-2017-310884. Epub 2017 Sep 28.

PMID:
28972023
3.

von Hippel-Lindau development in children and adolescents.

Launbjerg K, Bache I, Galanakis M, Bisgaard ML, Binderup MLM.

Am J Med Genet A. 2017 Sep;173(9):2381-2394. doi: 10.1002/ajmg.a.38324. Epub 2017 Jun 26.

PMID:
28650583
4.

Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T).

Alosi D, Bisgaard ML, Hemmingsen SN, Krogh LN, Mikkelsen HB, Binderup MLM.

Curr Genomics. 2017 Feb;18(1):93-103. doi: 10.2174/1389202917666160805153221. Review.

5.

Survival and causes of death in patients with von Hippel-Lindau disease.

Binderup ML, Jensen AM, Budtz-Jørgensen E, Bisgaard ML.

J Med Genet. 2017 Jan;54(1):11-18. doi: 10.1136/jmedgenet-2016-104058. Epub 2016 Aug 18.

PMID:
27539272
6.

New von Hippel-Lindau manifestations develop at the same or decreased rates in pregnancy.

Binderup ML, Budtz-Jørgensen E, Bisgaard ML.

Neurology. 2015 Oct 27;85(17):1500-3. doi: 10.1212/WNL.0000000000002064. Epub 2015 Sep 25.

PMID:
26408493
7.

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.

Movahedi M, Bishop DT, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JW, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar RS, Side L, Scott RJ, Thomas HJ, Vasen HF, Burn J, Mathers JC.

J Clin Oncol. 2015 Nov 1;33(31):3591-7. doi: 10.1200/JCO.2014.58.9952. Epub 2015 Aug 17.

PMID:
26282643
8.

Risk of new tumors in von Hippel-Lindau patients depends on age and genotype.

Binderup ML, Budtz-Jørgensen E, Bisgaard ML.

Genet Med. 2016 Jan;18(1):89-97. doi: 10.1038/gim.2015.44. Epub 2015 Apr 2.

PMID:
25834951
9.

The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24.

Rudkjøbing LA, Eiberg H, Mikkelsen HB, Binderup ML, Bisgaard ML.

Fam Cancer. 2015 Sep;14(3):393-400. doi: 10.1007/s10689-015-9791-2.

PMID:
25724759
10.

Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition.

Binderup ML, Bisgaard ML, Harbud V, Møller HU, Gimsing S, Friis-Hansen L, Hansen Tv, Bagi P, Knigge U, Kosteljanetz M, Bøgeskov L, Thomsen C, Gerdes AM, Ousager LB, Sunde L; Danish vHL Coordination Group.

Dan Med J. 2013 Dec;60(12):B4763.

PMID:
24355456
11.

von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening.

Binderup ML, Gimsing S, Kosteljanetz M, Thomsen C, Bisgaard ML.

Int J Audiol. 2013 Nov;52(11):771-5. doi: 10.3109/14992027.2013.824117. Epub 2013 Sep 5.

PMID:
24003980
12.

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.

Mathers JC, Movahedi M, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans G, Maher ER, Bertario L, Bisgaard ML, Dunlop M, Ho JW, Hodgson S, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJ, Vasen H, Gerdes AM, Barker G, Crawford G, Elliott F, Pylvanainen K, Wijnen J, Fodde R, Lynch H, Bishop DT, Burn J; CAPP2 Investigators.

Lancet Oncol. 2012 Dec;13(12):1242-9. doi: 10.1016/S1470-2045(12)70475-8. Epub 2012 Nov 7.

13.

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.

Burn J, Gerdes AM, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JW, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJ, Vasen HF, Barker G, Crawford G, Elliott F, Movahedi M, Pylvanainen K, Wijnen JT, Fodde R, Lynch HT, Mathers JC, Bishop DT; CAPP2 Investigators.

Lancet. 2011 Dec 17;378(9809):2081-7. doi: 10.1016/S0140-6736(11)61049-0. Epub 2011 Oct 27.

14.

von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors.

Poulsen ML, Gimsing S, Kosteljanetz M, Møller HU, Brandt CA, Thomsen C, Bisgaard ML.

Genet Med. 2011 Dec;13(12):1032-41. doi: 10.1097/GIM.0b013e31822beab1.

PMID:
21912262
15.

Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues.

Harboe TL, Willems P, Jespersgaard C, Mølgaard Poulsen ML, Sørensen FB, Bisgaard ML.

Dermatology. 2011;222(4):292-6. doi: 10.1159/000328404. Epub 2011 Jul 1.

PMID:
21720150
16.

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing.

Thomassen M, Pedersen IS, Vogel I, Hansen TV, Brasch-Andersen C, Brasen CL, Crüger D, Sunde L, Nielsen FC, Jensen UB, Bisgaard ML, Borg A, Gerdes AM, Kruse TA.

Breast Cancer Res Treat. 2011 Jul;128(1):179-85. doi: 10.1007/s10549-010-1272-6. Epub 2010 Dec 24.

PMID:
21184276
17.

Surveillance in von Hippel-Lindau disease (vHL).

Poulsen ML, Budtz-Jørgensen E, Bisgaard ML.

Clin Genet. 2010 Jan;77(1):49-59. doi: 10.1111/j.1399-0004.2009.01281.x. Epub 2009 Oct 15.

PMID:
19863552
18.

Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? - A case-control study.

Sunde L, Bisgaard ML, Soll-Johanning H, Jacobsen NO, Bolund L, Skouv J, Lynge E.

Cancer Biomark. 2009;5(4):197-205. doi: 10.3233/CBM-2009-0104.

PMID:
19729829
19.

Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery.

Nieuwenhuis MH, Bülow S, Björk J, Järvinen HJ, Bülow C, Bisgaard ML, Vasen HF.

Dis Colon Rectum. 2009 Jul;52(7):1259-63. doi: 10.1007/DCR.0b013e3181a0d33b.

PMID:
19571702
20.

MUTYH Associated Polyposis (MAP).

Poulsen ML, Bisgaard ML.

Curr Genomics. 2008 Sep;9(6):420-35. doi: 10.2174/138920208785699562.

21.

A high frequent BRCA1 founder mutation identified in the Greenlandic population.

Harboe TL, Eiberg H, Kern P, Ejlertsen B, Nedergaard L, Timmermans-Wielenga V, Nielsen IM, Bisgaard ML.

Fam Cancer. 2009;8(4):413-9. doi: 10.1007/s10689-009-9257-5. Epub 2009 Jun 7.

PMID:
19504351
22.

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.

Burn J, Bishop DT, Mecklin JP, Macrae F, Möslein G, Olschwang S, Bisgaard ML, Ramesar R, Eccles D, Maher ER, Bertario L, Jarvinen HJ, Lindblom A, Evans DG, Lubinski J, Morrison PJ, Ho JW, Vasen HF, Side L, Thomas HJ, Scott RJ, Dunlop M, Barker G, Elliott F, Jass JR, Fodde R, Lynch HT, Mathers JC; CAPP2 Investigators.

N Engl J Med. 2008 Dec 11;359(24):2567-78. doi: 10.1056/NEJMoa0801297. Erratum in: N Engl J Med. 2009 Apr 2;360(14):1470.

23.

Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families.

Boilesen AE, Bisgaard ML, Bernstein I.

Acta Obstet Gynecol Scand. 2008;87(11):1129-35. doi: 10.1080/00016340802443806.

PMID:
18972272
24.

Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2.

Liljegren A, Barker G, Elliott F, Bertario L, Bisgaard ML, Eccles D, Evans G, Macrae F, Maher E, Lindblom A, Rotstein S, Nilsson B, Mecklin JP, Möslein G, Jass J, Fodde R, Mathers J, Burn J, Bishop DT.

J Clin Oncol. 2008 Jul 10;26(20):3434-9. doi: 10.1200/JCO.2007.13.2795.

25.

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

Hansen TV, Bisgaard ML, Jønson L, Albrechtsen A, Filtenborg-Barnkob B, Eiberg H, Ejlertsen B, Nielsen FC.

BMC Med Genet. 2008 Jul 2;9:58. doi: 10.1186/1471-2350-9-58.

26.

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

Nilbert M, Wikman FP, Hansen TV, Krarup HB, Orntoft TF, Nielsen FC, Sunde L, Gerdes AM, Cruger D, Timshel S, Bisgaard ML, Bernstein I, Okkels H.

Fam Cancer. 2009;8(1):75-83. doi: 10.1007/s10689-008-9199-3. Epub 2008 Jun 20.

PMID:
18566915
27.

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

Thomassen M, Hansen TV, Borg A, Lianee HT, Wikman F, Pedersen IS, Bisgaard ML, Nielsen FC, Kruse TA, Gerdes AM.

Acta Oncol. 2008;47(4):772-7. doi: 10.1080/02841860802004974.

PMID:
18465347
28.

CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.

Margolin S, Eiberg H, Lindblom A, Bisgaard ML.

BMC Cancer. 2007 Aug 17;7:163.

29.

Young age colorectal cancer and identification of hereditary non-polyposis colorectal cancer cohorts.

Bisgaard ML.

Br J Surg. 2007 Sep;94(9):1055-6. No abstract available.

PMID:
17701952
30.

The CHEK2 1100delC variant in Swedish colorectal cancer.

Djureinovic T, Lindblom A, Dalén J, Dedorson S, Edler D, Hjern F, Holm J, Lenander C, Lindforss U, Lundqvist N, Olivecrona H, Olsson L, Påhlman L, Rutegård J, Smedh K, Törnqvist A, Eiberg H, Bisgaard ML.

Anticancer Res. 2006 Nov-Dec;26(6C):4885-8.

31.
32.

Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.

Park JG, Kim DW, Hong CW, Nam BH, Shin YK, Hong SH, Kim IJ, Lim SB, Aronson M, Bisgaard ML, Brown GJ, Burn J, Chow E, Conrad P, Douglas F, Dunlop M, Ford J, Greenblatt MS, Heikki J, Heinimann K, Lynch EL, Macrae F, McKinnon WC, Möeslein G, Rossi BM, Rozen P, Schofield L, Vaccaro C, Vasen H, Velthuizen M, Viel A, Wijnen J; International Society for Gastrointestinal Hereditary Tumours.

Clin Cancer Res. 2006 Jun 1;12(11 Pt 1):3389-93.

33.

Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1.

Skoglund J, Djureinovic T, Zhou XL, Vandrovcova J, Renkonen E, Iselius L, Bisgaard ML, Peltomäki P, Lindblom A.

J Med Genet. 2006 Feb;43(2):e7.

34.
35.

Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer.

Ripa RS, Katballe N, Wikman FP, Jäger AC, Bernstein I, Orntoft T, Schwartz M, Nielsen FC, Bisgaard ML.

Mutat Res. 2005 Feb 15;570(1):89-96.

PMID:
15680406
36.
37.
38.

Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway.

Lipton L, Halford SE, Johnson V, Novelli MR, Jones A, Cummings C, Barclay E, Sieber O, Sadat A, Bisgaard ML, Hodgson SV, Aaltonen LA, Thomas HJ, Tomlinson IP.

Cancer Res. 2003 Nov 15;63(22):7595-9.

39.

Attenuated familial adenomatous polyposis (AFAP). A review of the literature.

Knudsen AL, Bisgaard ML, Bülow S.

Fam Cancer. 2003;2(1):43-55. Review.

PMID:
14574166
40.

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP.

N Engl J Med. 2003 Feb 27;348(9):791-9.

41.

[Prevention of colorectal cancer in families with hereditary nonpolyposis colorectal cancer].

Bernstein IT, Bisgaard ML, Myrhøj T.

Ugeskr Laeger. 2003 Jan 13;165(3):221-5. Danish.

PMID:
12555703
42.

De novo mutations in familial adenomatous polyposis (FAP).

Ripa R, Bisgaard ML, Bülow S, Nielsen FC.

Eur J Hum Genet. 2002 Oct;10(10):631-7. Erratum in: Eur J Hum Genet. 2002 Dec;10(12):887-8.

43.

Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.

Bisgaard ML, Jäger AC, Myrhøj T, Bernstein I, Nielsen FC.

Hum Mutat. 2002 Jul;20(1):20-7.

PMID:
12112654
44.

Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study.

Park JG, Vasen HF, Park YJ, Park KJ, Peltomaki P, de Leon MP, Rodriguez-Bigas MA, Lubinski J, Beck NE, Bisgaard ML, Miyaki M, Wijnen JT, Baba S, Lindblom A, Madlensky L, Lynch HT.

Int J Colorectal Dis. 2002 Mar;17(2):109-14.

PMID:
12014418
45.

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.

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.

Proc Natl Acad Sci U S A. 2002 Mar 5;99(5):2954-8. Epub 2002 Feb 26.

46.

Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families.

Andersen BD, Bisgaard ML, Lind B, Philips M, Villoutreix B, Thorsen S.

Thromb Haemost. 2001 Dec;86(6):1392-9.

PMID:
11776305
47.

The role of hPMS1 and hPMS2 in predisposing to colorectal cancer.

Liu T, Yan H, Kuismanen S, Percesepe A, Bisgaard ML, Pedroni M, Benatti P, Kinzler KW, Vogelstein B, Ponz de Leon M, Peltomäki P, Lindblom A.

Cancer Res. 2001 Nov 1;61(21):7798-802.

48.

Allelic loss of chromosome 2p21-16.3 is associated with reduced survival in sporadic colorectal cancer.

Bisgaard ML, Jäger AC, Dalgaard P, Søndergaard JO, Rehfeld JF, Nielsen FC.

Scand J Gastroenterol. 2001 Apr;36(4):405-9.

PMID:
11336166
49.

MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer.

Huang J, Kuismanen SA, Liu T, Chadwick RB, Johnson CK, Stevens MW, Richards SK, Meek JE, Gao X, Wright FA, Mecklin JP, Järvinen HJ, Grönberg H, Bisgaard ML, Lindblom A, Peltomäki P.

Cancer Res. 2001 Feb 15;61(4):1619-23.

50.

Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis.

Bülow C, Vasen H, Järvinen H, Björk J, Bisgaard ML, Bülow S.

Gastroenterology. 2000 Dec;119(6):1454-60.

PMID:
11113066

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