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List of works by Maartje Nielsen

A PMS2-specific colorectal surveillance guideline

scientific article

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

scientific article published on 17 June 2019

Analysis of MUTYH Genotypes and Colorectal Phenotypes in Patients With MUTYH-Associated Polyposis

scientific article published on 30 October 2008

Cancer Risks for PMS2-Associated Lynch Syndrome

scientific article published on 30 August 2018

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

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

scientific article

Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas

scientific article published on 15 June 2009

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

scientific article published on 20 July 2016

Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

scientific article

Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.

scientific article published on March 2013

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

scientific article

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 20 July 2020

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

scientific article

Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy

scientific article published on 16 September 2019

Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia

scientific article

Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis.

scientific article published on 2 November 2016

Duodenal carcinoma in MUTYH-associated polyposis

scientific article published on 30 August 2006

Evidence for accelerated colorectal adenoma–carcinoma progression inMUTYH-associated polyposis?

scientific article published on 16 August 2011

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

scientific article published on 25 July 2017

Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer.

scientific article published on 9 November 2017

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis

scientific article

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

scientific article published on 13 June 2007

Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

scientific article published in May 2007

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer

scientific article

High frequency of copy-neutral LOH inMUTYH-associated polyposis carcinomas

scientific article published in September 2008

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

scientific article published on June 2015

Identification of familial colorectal cancer and hereditary colorectal cancer syndromes through the Dutch population-screening program: results ofa pilot study

scientific article published on 16 June 2016

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.

scientific article published in January 2008

Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer

scientific article published on 27 February 2010

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

scientific article published on 23 April 2009

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

scientific article published on 30 May 2008

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

scientific article published on 28 February 2019

Leiden Open Variation Database of the MUTYH gene

scientific article

Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps

scientific article published on 02 March 2019

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk

scientific article published on 15 December 2014

MUTYH gene variants and breast cancer in a Dutch case–control study

scientific article

MUTYH-associated polyposis (MAP)

scientific article

MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers

scientific article published in September 2009

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

scientific article

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

scientific article published on 16 March 2015

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

scientific article published on 18 July 2020

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

scientific article published on 01 December 2020

SNP association study in PMS2-associated Lynch syndrome.

scientific article published on 17 November 2017

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

scientific article published on 14 October 2019

Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients

scientific article

The "unnatural" history of colorectal cancer in Lynch syndrome: lessons from colonoscopy surveillance

scientific article published on 19 July 2020

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect

scientific article published on 01 March 2019

The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material

scientific article published on 15 October 2019

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

scientific article published on 25 June 2015

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

scientific article published on 01 January 2007

Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue

scientific article published on 21 June 2018

Value-based healthcare in Lynch syndrome

scientific article published in June 2013

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