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List of works by Nienke van der Stoep

A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma

scientific article published on 07 July 2015

A variant in FTO shows association with melanoma risk not due to BMI

scientific article

Activated human T cells accomplish MHC class II expression through T cell-specific occupation of class II transactivator promoter III

scientific article published on 01 January 2002

Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma

scientific article published on 29 September 2020

Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories

scientific article published on 19 August 2013

CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

scientific article published on 16 April 2018

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

scientific article published on 01 October 2018

Class II transactivator (CIITA) deficiency in tumor cells: complicated mechanisms or not?

scientific article published on July 2003

Comments on 'Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures' in Molecular Genetics and Metabolism' 2014 Mar;111(3):404-7 by M.G. de Roo, N.G. Abeling, C.B. Majoie, A.M. Bosch, J.H. Koelman, J

scientific article published on 10 May 2014

Constitutive and IFNgamma-induced activation of MHC2TA promoter type III in human melanoma cell lines is governed by separate regulatory elements within the PIII upstream regulatory region.

scientific article published on 25 October 2006

DNA methylation and expression of major histocompatibility complex class I and class II transactivator genes in human developmental tumor cells and in T cell malignancies.

scientific article published on October 2003

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner

scientific article published in June 2009

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

scientific article published on 18 March 2015

E47, IRF-4, and PU.1 synergize to induce B-cell-specific activation of the class II transactivator promoter III (CIITA-PIII).

scientific article published on 8 July 2004

Epigenetic control of CIITA expression in leukemic T cells

scientific article published on 01 September 2004

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

scientific article published on 05 February 2019

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

scientific article published on 16 October 2018

Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines

scientific article published on 04 August 2019

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

scientific article

Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

scientific article published on 16 June 2020

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

scientific article published on 27 April 2020

Genome-wide association study identifies three new melanoma susceptibility loci

scientific article

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

scientific article

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

scientific article published on 01 June 2020

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

scientific article

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

Indication forCDKN2A-mutation analysis in familial pancreatic cancer families without melanomas ⬇️

scientific article published on May 25, 2012

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

scientific article published on 01 November 2019

Lack of IFN-gamma-mediated induction of the class II transactivator (CIITA) through promoter methylation is predominantly found in developmental tumor cell lines

scientific article published in February 2002

Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features

scientific article published in November 2012

Multi-gene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families

article

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

scientific article

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

scientific article published on September 2015

Non-founder BRCA1 mutations in Russian breast cancer patients

scientific article published on 19 August 2010

Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study

scientific article published on 26 June 2015

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

scientific article published on 28 January 2016

Progress report on the major clinical advances in patient-oriented research into familial melanoma (2013-2018)

scientific article published on 01 April 2019

Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis

scientific article published on 5 May 2009

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

scientific article published on 26 June 2019

The effect on melanoma risk of genes previously associated with telomere length

scientific article

Transcriptional regulation of antigen presentation.

scientific article published on February 2004

Transcriptional regulation of the MHC class II trans-activator (CIITA) promoter III: identification of a novel regulatory region in the 5'-untranslated region and an important role for cAMP-responsive element binding protein 1 and activating transcr

scientific article published on November 2002

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

scientific article published on 21 June 2018

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