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Nielsen Maartje
Nielsen Maartje
hes, wezel
Verified email at lumc.nl
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Year
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
5312020
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ...
Nature genetics 44 (4), 379-380, 2012
3992012
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis
S Vogt, N Jones, D Christian, C Engel, M Nielsen, A Kaufmann, V Steinke, ...
Gastroenterology 137 (6), 1976-1985. e10, 2009
3952009
Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk
SW Ten Broeke, RM Brohet, CM Tops, HM van der Klift, ME Velthuizen, ...
Journal of Clinical Oncology 33 (4), 319-325, 2015
2282015
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
M Nielsen, PF Franken, T Reinards, MM Weiss, A Wagner, H Van der Klift, ...
Journal of medical genetics 42 (9), e54-e54, 2005
2262005
MUTYH-associated polyposis (MAP)
M Nielsen, H Morreau, HFA Vasen, FJ Hes
Critical reviews in oncology/hematology 79 (1), 1-16, 2011
2242011
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
S Walpole, AL Pritchard, CM Cebulla, R Pilarski, M Stautberg, ...
JNCI: Journal of the National Cancer Institute 110 (12), 1328-1341, 2018
2232018
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis
M Nielsen, FJ Hes, FM Nagengast, MM Weiss, EM Mathus‐Vliegen, ...
Clinical genetics 71 (5), 427-433, 2007
2162007
Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH-associated polyposis
M Nielsen, MC Joerink-Van de Beld, N Jones, S Vogt, CM Tops, ...
Gastroenterology 136 (2), 471-476, 2009
2062009
Cancer Risks for PMS2-Associated Lynch Syndrome
SW Ten Broeke, HM van der Klift, CMJ Tops, S Aretz, I Bernstein, ...
Journal of Clinical Oncology 36 (29), 2961-2968, 2018
1932018
Somatic APC mosaicism: an underestimated cause of polyposis coli
FJ Hes, M Nielsen, EC Bik, D Konvalinka, JT Wijnen, E Bakker, ...
Gut 57 (1), 71-76, 2008
1842008
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
C Halgren, S Kjaergaard, M Bak, C Hansen, Z El‐Schich, CM Anderson, ...
Clinical genetics 82 (3), 248-255, 2012
1692012
Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype
JE Grolleman, RM De Voer, FA Elsayed, M Nielsen, RDA Weren, C Palles, ...
Cancer cell 35 (2), 256-266. e5, 2019
1652019
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH
N Jones, S Vogt, M Nielsen, D Christian, PA Wark, D Eccles, E Edwards, ...
Gastroenterology 137 (2), 489-494. e1, 2009
1552009
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer
FA Elsayed, CM Kets, D Ruano, B Van Den Akker, AR Mensenkamp, ...
European Journal of Human Genetics 23 (8), 1080-1084, 2015
1322015
The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution
A Ballhausen, MJ Przybilla, M Jendrusch, S Haupt, E Pfaffendorf, ...
Nature communications 11 (1), 4740, 2020
1052020
Leiden open variation database of the MUTYH gene
AA Out, CMJ Tops, M Nielsen, MM Weiss, IJHM Van Minderhout, ...
Human mutation 31 (11), 1205-1215, 2010
962010
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
SM Maas, AC Shaw, H Bikker, HJ Lüdecke, K van der Tuin, ...
European journal of medical genetics 58 (5), 279-292, 2015
862015
Evidence for accelerated colorectal adenoma–carcinoma progression in MUTYH-associated polyposis?
MH Nieuwenhuis, S Vogt, N Jones, M Nielsen, FJ Hes, JR Sampson, ...
Gut 61 (5), 734-738, 2012
762012
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
AK Win, JG Dowty, JC Reece, G Lee, AS Templeton, JP Plazzer, ...
The Lancet Oncology 22 (7), 1014-1022, 2021
752021
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