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Nielsen Maartje
Nielsen Maartje
hes, wezel
Verified email at lumc.nl
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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
4832020
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
3872009
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
3852012
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
2232005
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk
SW Ten Broeke, RM Brohet, CM Tops, HM van der Klift, ME Velthuizen, ...
J Clin Oncol 33 (4), 319-325, 2015
2212015
MUTYH-associated polyposis (MAP)
M Nielsen, H Morreau, HFA Vasen, FJ Hes
Critical reviews in oncology/hematology 79 (1), 1-16, 2011
2192011
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
2152007
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
2032018
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
2012009
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, 2018
1842018
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
1792008
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
1642012
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
1542019
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
1522009
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
1312015
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
962020
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
942010
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
802015
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
742012
Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas
M Nielsen, NFCC de Miranda, M van Puijenbroek, ES Jordanova, ...
BMC cancer 9, 1-15, 2009
702009
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