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Items: 1 to 20 of 33

1.

Functional Studies on Primary Tubular Epithelial Cells Indicate a Tumor Suppressor Role of SETD2 in Clear Cell Renal Cell Carcinoma.

Li J, Kluiver J, Osinga J, Westers H, van Werkhoven MB, Seelen MA, Sijmons RH, van den Berg A, Kok K.

Neoplasia. 2016 Jun;18(6):339-46. doi: 10.1016/j.neo.2016.04.005. Epub 2016 May 26.

2.

Thank you to all our manuscript reviewers in 2015.

Lubinski J, Scott RJ, Sijmons R, Theissen SM.

Hered Cancer Clin Pract. 2016 Feb 29;14:7. doi: 10.1186/s13053-016-0047-4. eCollection 2016.

3.

SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data.

Pang C, Sollie A, Sijtsma A, Hendriksen D, Charbon B, de Haan M, de Boer T, Kelpin F, Jetten J, van der Velde JK, Smidt N, Sijmons R, Hillege H, Swertz MA.

Database (Oxford). 2015 Sep 18;2015. pii: bav089. doi: 10.1093/database/bav089. Print 2015.

4.

Thank you to all our manuscript reviewers in 2014.

Lubinski J, Scott RJ, Sijmons R, Bayliss K.

Hered Cancer Clin Pract. 2015 Mar 12;13(1):9. doi: 10.1186/s13053-015-0029-y. eCollection 2015.

PMID:
25763118
Free PMC Article
5.

Charles Buys (1942-2014).

Sijmons RH, te Meerman GJ, Hofstra RM.

Eur J Hum Genet. 2014 Dec;22(12):1343-4. doi: 10.1038/ejhg.2014.207. No abstract available.

6.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M; InSiGHT.

Nat Genet. 2014 Feb;46(2):107-15. doi: 10.1038/ng.2854. Epub 2013 Dec 22.

7.

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.

Hes FJ, Ruano D, Nieuwenhuis M, Tops CM, Schrumpf M, Nielsen M, Huijts PE, Wijnen JT, Wagner A, Gómez García EB, Sijmons RH, Menko FH, Letteboer TG, Hoogerbrugge N, Harryvan J, Kampman E, Morreau H, Vasen HF, van Wezel T.

J Med Genet. 2014 Jan;51(1):55-60. doi: 10.1136/jmedgenet-2013-102000. Epub 2013 Nov 19.

8.

Prevalence of BRCA1 and BRCA2 Germline Mutations in Breast Cancer Women of Multiple Ethnic Region in Northwest China.

Ou J, Wu T, Sijmons R, Ni D, Xu W, Upur H.

J Breast Cancer. 2013 Mar;16(1):50-4. doi: 10.4048/jbc.2013.16.1.50. Epub 2013 Mar 31.

9.

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.

Vasen HF, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, Bernstein I, Bertario L, Burn J, Capella G, Colas C, Engel C, Frayling IM, Genuardi M, Heinimann K, Hes FJ, Hodgson SV, Karagiannis JA, Lalloo F, Lindblom A, Mecklin JP, Møller P, Myrhoj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Sijmons RH, Tejpar S, Thomas HJ, Rahner N, Wijnen JT, Järvinen HJ, Möslein G; Mallorca group.

Gut. 2013 Jun;62(6):812-23. doi: 10.1136/gutjnl-2012-304356. Epub 2013 Feb 13.

10.

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB, Tavtigian SV.

Hum Mutat. 2013 Jan;34(1):255-65. doi: 10.1002/humu.22214. Epub 2012 Oct 22.

11.

Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.

Harinck F, Kluijt I, van Mil SE, Waisfisz Q, van Os TA, Aalfs CM, Wagner A, Olderode-Berends M, Sijmons RH, Kuipers EJ, Poley JW, Fockens P, Bruno MJ.

Eur J Hum Genet. 2012 May;20(5):577-9. doi: 10.1038/ejhg.2011.226. Epub 2011 Dec 14.

12.

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.

Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, Schackert HK, Steinke V, Holinski-Feder E, Morak M, Kloor M, Büttner R, Verwiel ET, van Krieken JH, Nagtegaal ID, Goossens M, van der Post RS, Niessen RC, Sijmons RH, Kluijt I, Hogervorst FB, Leter EM, Gille JJ, Aalfs CM, Redeker EJ, Hes FJ, Tops CM, van Nesselrooij BP, van Gijn ME, Gómez García EB, Eccles DM, Bunyan DJ, Syngal S, Stoffel EM, Culver JO, Palomares MR, Graham T, Velsher L, Papp J, Oláh E, Chan TL, Leung SY, van Kessel AG, Kiemeney LA, Hoogerbrugge N, Ligtenberg MJ.

Lancet Oncol. 2011 Jan;12(1):49-55. doi: 10.1016/S1470-2045(10)70265-5. Epub 2010 Dec 8.

13.

Regular surveillance for Li-Fraumeni Syndrome: advice, adherence and perceived benefits.

Lammens CR, Bleiker EM, Aaronson NK, Wagner A, Sijmons RH, Ausems MG, Vriends AH, Ruijs MW, van Os TA, Spruijt L, Gómez García EB, Cats A, Nagtegaal T, Verhoef S.

Fam Cancer. 2010 Dec;9(4):647-54. doi: 10.1007/s10689-010-9368-z.

14.

Screening for germline DND1 mutations in testicular cancer patients.

Sijmons RH, Vos YJ, Herkert JC, Bos KK, Lutke Holzik MF, Hoekstra-Weebers JE, Hofstra RM, Hoekstra HJ.

Fam Cancer. 2010 Sep;9(3):439-42. doi: 10.1007/s10689-010-9340-y.

15.

Attitude towards pre-implantation genetic diagnosis for hereditary cancer.

Lammens C, Bleiker E, Aaronson N, Vriends A, Ausems M, Jansweijer M, Wagner A, Sijmons R, van den Ouweland A, van der Luijt R, Spruijt L, Gómez García E, Ruijs M, Verhoef S.

Fam Cancer. 2009;8(4):457-64. doi: 10.1007/s10689-009-9265-5. Epub 2009 Jul 30.

16.

Sharing data between LSDBs and central repositories.

den Dunnen JT, Sijmons RH, Andersen PS, Vihinen M, Beckmann JS, Rossetti S, Talbot CC Jr, Hardison RC, Povey S, Cotton RG.

Hum Mutat. 2009 Apr;30(4):493-5. doi: 10.1002/humu.20977.

17.

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

Greenblatt MS, Brody LC, Foulkes WD, Genuardi M, Hofstra RM, Olivier M, Plon SE, Sijmons RH, Sinilnikova O, Spurdle AB; IARC Unclassified Genetic Variants Working Group.

Hum Mutat. 2008 Nov;29(11):1273-81. doi: 10.1002/humu.20889.

18.

Clinical and genetic aspects of testicular germ cell tumours.

Lutke Holzik MF, Sijmons RH, Hoekstra-Weebers JE, Sleijfer DT, Hoekstra HJ.

Hered Cancer Clin Pract. 2008 Feb 15;6(1):3-14. doi: 10.1186/1897-4287-6-1-3.

19.

Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome.

Sijmons RH.

Hered Cancer Clin Pract. 2008 Feb 15;6(1):22-57. doi: 10.1186/1897-4287-6-1-22.

20.

Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum.

Stulp RP, Herkert JC, Karrenbeld A, Mol B, Vos YJ, Sijmons RH.

Hered Cancer Clin Pract. 2008 Feb 15;6(1):15-21. doi: 10.1186/1897-4287-6-1-15.

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