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Rolf Sijmons
Rolf Sijmons
Professor of Medical Translational Genetics, dept Genetics, University Medical Center Groningen
Email verificata su umcg.nl - Home page
Titolo
Citata da
Citata da
Anno
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
HFA Vasen, I Blanco, K Aktan-Collan, JP Gopie, A Alonso, S Aretz, ...
Gut 62 (6), 812-823, 2013
8412013
Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease
MR Nelen, WCG van Staveren, EAJ Peeters, M Ben Hassel, RJ Gorlin, ...
Human molecular genetics 6 (8), 1383-1387, 1997
5911997
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
P Møller, TT Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, ...
Gut 67 (7), 1306-1316, 2018
5402018
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
P Møller, T Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, ...
Gut 66 (3), 464-472, 2017
5392017
Familial endometrial cancer in female carriers of MSH6 germline mutations
J Wijnen, W Leeuw, H Vasen, H Klift, P Møller, A Stormorken, ...
Nature genetics 23 (2), 142-144, 1999
4921999
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
M Dominguez-Valentin, JR Sampson, TT Seppälä, SW Ten Broeke, ...
Genetics in Medicine 22 (1), 15-25, 2020
4912020
Clinical findings with implications for genetic testing in families with clustering of colorectal cancer
JT Wijnen, HFA Vasen, PM Khan, AH Zwinderman, H van der Klift, ...
New England Journal of Medicine 339 (8), 511-518, 1998
4911998
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
BA Thompson, AB Spurdle, JP Plazzer, MS Greenblatt, K Akagi, ...
Nature genetics 46 (2), 107-115, 2014
4862014
Association of hereditary nonpolyposis colorectal cancer–related tumors displaying low microsatellite instability with MSH6 germline mutations
Y Wu, MJW Berends, RGJ Mensink, C Kempinga, RH Sijmons, ...
The American Journal of Human Genetics 65 (5), 1291-1298, 1999
3901999
Targeted next‐generation sequencing can replace Sanger sequencing in clinical diagnostics
B Sikkema‐Raddatz, LF Johansson, EN de Boer, R Almomani, LG Boven, ...
Human mutation 34 (7), 1035-1042, 2013
3872013
TP53 germline mutation testing in 180 families suspected of Li–Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
MWG Ruijs, S Verhoef, MA Rookus, R Pruntel, AH van der Hout, ...
Journal of medical genetics 47 (6), 421-428, 2010
3602010
Risks of less common cancers in proven mutation carriers with lynch syndrome
C Engel, M Loeffler, V Steinke, N Rahner, E Holinski-Feder, W Dietmaier, ...
Journal of Clinical Oncology 30 (35), 4409-4415, 2012
3432012
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
MJE Kempers, RP Kuiper, CW Ockeloen, PO Chappuis, P Hutter, ...
The lancet oncology 12 (1), 49-55, 2011
3432011
Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant
MJW Berends, Y Wu, RH Sijmons, RGJ Mensink, T van der Sluis, ...
The American Journal of Human Genetics 70 (1), 26-37, 2002
3432002
Management of extracolonic tumours in patients with Lynch syndrome
JJ Koornstra, MJE Mourits, RH Sijmons, AM Leliveld, H Hollema, ...
The lancet oncology 10 (4), 400-408, 2009
2632009
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome
RC Niessen, RMW Hofstra, H Westers, MJL Ligtenberg, K Kooi, ...
Genes, Chromosomes and Cancer 48 (8), 737-744, 2009
2432009
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status
C Oliveira, JL Westra, D Arango, M Ollikainen, E Domingo, A Ferreira, ...
Human molecular genetics 13 (19), 2303-2311, 2004
2392004
Low-penetrance genes and their involvement in colorectal cancer susceptibility
MM de Jong, IM Nolte, GJ te Meerman, WTA van der Graaf, EGE de Vries, ...
Cancer Epidemiology Biomarkers & Prevention 11 (11), 1332-1352, 2002
2332002
Molecular evidence linking primary cancer of the fallopian tube to BRCA1 germline mutations
RP Zweemer, PJ Van Diest, RHM Verheijen, A Ryan, JJP Gille, ...
Gynecologic oncology 76 (1), 45-50, 2000
2282000
A role for MLH3 in hereditary nonpolyposis colorectal cancer
Y Wu, MJW Berends, RH Sijmons, RGJ Mensink, E Verlind, KA Kooi, ...
Nature genetics 29 (2), 137-138, 2001
2272001
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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