Hes FJ - Search Results

1

High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.

Heesterman BL, Bayley JP, Tops CM, Hes FJ, van Brussel BT, Corssmit EP, Hamming JF, van der Mey AG, Jansen JC. Heesterman BL, et al. Among authors: hes fj. Eur J Hum Genet. 2013 Apr;21(4):469-70. doi: 10.1038/ejhg.2012.203. Epub 2012 Sep 5. Eur J Hum Genet. 2013. PMID: 22948026 Free PMC article.

2

A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.

Van Der Kelen A, Okutman Ö, Javey E, Serdarogullari M, Janssens C, Ghosh MS, Dequeker BJH, Perold F, Kastner C, Kieffer E, Segers I, Gheldof A, Hes FJ, Sermon K, Verpoest W, Viville S. Van Der Kelen A, et al. Among authors: hes fj. Hum Reprod Update. 2023 Mar 1;29(2):218-232. doi: 10.1093/humupd/dmac044. Hum Reprod Update. 2023. PMID: 36571510

3

[From gene to disease; Von Hippel-Lindau disease].

Hes FJ, Los M, van der Luijt RB. Hes FJ, et al. Ned Tijdschr Geneeskd. 2002 Jul 20;146(29):1364-7. Ned Tijdschr Geneeskd. 2002. PMID: 12162174 Review. Dutch.

4

MUTYH and the mismatch repair system: partners in crime?

Niessen RC, Sijmons RH, Ou J, Olthof SG, Osinga J, Ligtenberg MJ, Hogervorst FB, Weiss MM, Tops CM, Hes FJ, de Bock GH, Buys CH, Kleibeuker JH, Hofstra RM. Niessen RC, et al. Among authors: hes fj. Hum Genet. 2006 Mar;119(1-2):206-11. doi: 10.1007/s00439-005-0118-5. Epub 2006 Jan 12. Hum Genet. 2006. PMID: 16408224

5

The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.

van Puijenbroek M, Nielsen M, Reinards TH, Weiss MM, Wagner A, Hendriks YM, Vasen HF, Tops CM, Wijnen J, van Wezel T, Hes FJ, Morreau H. van Puijenbroek M, et al. Among authors: hes fj. Fam Cancer. 2007;6(1):43-51. doi: 10.1007/s10689-006-9103-y. Fam Cancer. 2007. PMID: 17039270

6

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. Nielsen M, et al. Among authors: hes fj. Clin Genet. 2007 May;71(5):427-33. doi: 10.1111/j.1399-0004.2007.00766.x. Clin Genet. 2007. PMID: 17489848

7

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Nielsen M, Bik E, Hes FJ, Breuning MH, Vasen HF, Bakker E, Tops CM, Weiss MM. Nielsen M, et al. Among authors: hes fj. Eur J Hum Genet. 2007 Oct;15(10):1034-42. doi: 10.1038/sj.ejhg.5201871. Epub 2007 Jun 13. Eur J Hum Genet. 2007. PMID: 17568392 Review.

8

Somatic APC mosaicism: an underestimated cause of polyposis coli.

Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, Vasen HF, Breuning MH, Tops CM. Hes FJ, et al. Gut. 2008 Jan;57(1):71-6. doi: 10.1136/gut.2006.117796. Epub 2007 Jun 29. Gut. 2008. PMID: 17604324

9

Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations.

Nielsen M, Hes FJ, Vasen HF, van den Hout WB. Nielsen M, et al. Among authors: hes fj. BMC Med Genet. 2007 Jul 2;8:42. doi: 10.1186/1471-2350-8-42. BMC Med Genet. 2007. PMID: 17605803 Free PMC article.

10

Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue.

van Puijenbroek M, Nielsen M, Tops CM, Halfwerk H, Vasen HF, Weiss MM, van Wezel T, Hes FJ, Morreau H. van Puijenbroek M, et al. Among authors: hes fj. Clin Cancer Res. 2008 Jan 1;14(1):139-42. doi: 10.1158/1078-0432.CCR-07-1705. Clin Cancer Res. 2008. PMID: 18172263

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